Naomichi Matsumoto
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Computer Science
Naomichi Matsumoto's Degrees
- PhD Computer Science University of Tokyo
- Masters Computer Science University of Tokyo
- Bachelors Computer Science University of Tokyo
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(Suggest an Edit or Addition)Naomichi Matsumoto's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (2010) (1357)
- Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome (2006) (551)
- Heterozygous TGFBR2 mutations in Marfan syndrome (2004) (518)
- De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy (2008) (499)
- Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome (2012) (422)
- De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood (2013) (393)
- Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. (2001) (369)
- LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. (1998) (345)
- Haploinsufficiency of NSD1 causes Sotos syndrome (2002) (285)
- Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease (2019) (256)
- Human genetic variation database, a reference database of genetic variations in the Japanese population (2016) (248)
- Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease (2012) (233)
- Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) (2003) (230)
- SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 (2016) (219)
- Differences in the gyral pattern distinguish chromosome 17–linked and X-linked lissencephaly (1999) (216)
- Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation. (2013) (202)
- Kabuki make‐up syndrome: A review (2003) (195)
- Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation (2013) (182)
- KDM6A Point Mutations Cause Kabuki Syndrome (2013) (181)
- Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. (2013) (177)
- Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome (2011) (175)
- De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. (2013) (173)
- Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome (2013) (169)
- Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb (2015) (157)
- MLL2 and KDM6A mutations in patients with Kabuki syndrome (2013) (153)
- Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia (2001) (150)
- Recent progress in genetics of Marfan syndrome and Marfan-associated disorders (2006) (149)
- A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family (2004) (148)
- Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. (2013) (146)
- Early onset epileptic encephalopathy caused by de novo SCN8A mutations (2014) (145)
- Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. (2011) (144)
- Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. (2010) (142)
- Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. (1999) (140)
- Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion (2003) (139)
- Molecular genetics of Marfan syndrome (2005) (136)
- Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci (2017) (135)
- Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly (2013) (135)
- LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density (2004) (134)
- Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. (2005) (132)
- STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern (2010) (130)
- Loss‐of‐function mutations of CHST14 in a new type of Ehlers‐Danlos syndrome (2010) (129)
- Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels. (2015) (125)
- Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene (2013) (123)
- De novo SOX11 mutations cause Coffin–Siris syndrome (2014) (114)
- Coffin–Siris syndrome is a SWI/SNF complex disorder (2014) (114)
- Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. (2018) (111)
- Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood (2013) (109)
- The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. (2000) (107)
- SMOC1 is essential for ocular and limb development in humans and mice. (2011) (104)
- Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) (2002) (103)
- Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. (2013) (102)
- DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis (2015) (101)
- Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions (2003) (95)
- Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome (2012) (95)
- Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay (2015) (93)
- De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy (2013) (92)
- Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature (2013) (88)
- The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome (2014) (88)
- De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. (2012) (87)
- Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. (2015) (87)
- PIGA mutations cause early-onset epileptic encephalopathies and distinctive features (2014) (86)
- De novo KCNT1 mutations in early‐onset epileptic encephalopathy (2015) (86)
- A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway (2002) (85)
- Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air. (2005) (84)
- Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development (2018) (83)
- A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations (2010) (83)
- Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. (2001) (82)
- Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. (2011) (80)
- GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy (2019) (79)
- A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance (2012) (79)
- Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. (2003) (79)
- Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation (2013) (77)
- Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease (2009) (77)
- Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. (2019) (77)
- Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners. (2001) (75)
- Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy (2013) (75)
- Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. (2016) (74)
- Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay (2016) (73)
- GRIN1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders (2015) (73)
- BAC array CGH reveals genomic aberrations in idiopathic mental retardation (2006) (73)
- Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads (2019) (71)
- CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia (2012) (71)
- Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder (2015) (71)
- Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation (2016) (70)
- Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes (2006) (70)
- De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy (2015) (67)
- Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia (2005) (67)
- De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing (2015) (66)
- Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. (2017) (66)
- De novo GABRA1 mutations in Ohtahara and West syndromes (2016) (64)
- Molecular characterization of inv dup del(8p): Analysis of five cases (2004) (64)
- Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome (2017) (63)
- Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients (2011) (62)
- A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34. (2015) (61)
- SPTAN1 encephalopathy: distinct phenotypes and genotypes (2015) (61)
- Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome (2015) (61)
- Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. (2018) (60)
- Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3 (2014) (60)
- Array comparative genomic hybridization analysis in first‐trimester spontaneous abortions with ‘normal’ karyotypes (2006) (60)
- Long-read sequencing for rare human genetic diseases (2019) (59)
- Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation (2004) (59)
- Novel tumorigenic rearrangement, Delta rfp/ret, in a papillary thyroid carcinoma from externally irradiated patient. (2003) (58)
- Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome (2016) (58)
- PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy (2014) (57)
- Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy (2017) (57)
- Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa (2014) (56)
- High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders (2016) (55)
- Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing (2016) (55)
- De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy (2018) (53)
- KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (2018) (53)
- Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene (2015) (52)
- Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing (2014) (52)
- Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features (2012) (50)
- Narrowing candidate region for monosomy 9p syndrome to a 4.7‐Mb segment at 9p22.2‐p23 (2006) (50)
- De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy (2018) (50)
- De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain (2014) (50)
- Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis (2021) (50)
- De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance (2015) (50)
- PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder (2017) (50)
- Genetics of Sotos syndrome (2003) (50)
- Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach (2015) (49)
- Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. (2003) (49)
- De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism (2018) (49)
- A case of autism spectrum disorder arising from a de novo missense mutation in POGZ (2015) (49)
- Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome (2017) (49)
- The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain (2003) (48)
- De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders (2018) (48)
- Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. (2019) (48)
- PAPSS2 mutations cause autosomal recessive brachyolmia (2012) (48)
- Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest (2006) (48)
- Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies (2014) (48)
- Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation (2015) (48)
- Role of DNA Methylation and Histone H3 Lysine 27 Methylation in Tissue-Specific Imprinting of Mouse Grb10 (2006) (48)
- NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory (2005) (47)
- Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R? (2002) (47)
- Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome (2005) (47)
- Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene (2003) (47)
- CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX (2002) (46)
- Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. (2016) (46)
- Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations (2016) (46)
- Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures (2019) (45)
- The molecular and phenotypic spectrum of IQSEC2‐related epilepsy (2016) (44)
- Quinidine therapy for West syndrome with KCNTI mutation: A case report (2017) (44)
- DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes (2020) (43)
- Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement (2017) (43)
- Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits (2008) (43)
- Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2 (2013) (43)
- Molecular genetic analysis of 30 families with Joubert syndrome (2016) (43)
- WDR45 mutations in three male patients with West syndrome (2016) (43)
- Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly (2014) (42)
- A PLK4 mutation causing azoospermia in a man with Sertoli cell‐only syndrome (2016) (42)
- Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. (2016) (42)
- Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing (2011) (42)
- Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2. (1997) (41)
- Origin and mechanisms of formation of fetus‐in‐fetu: Two cases with genotype and methylation analyses (2006) (41)
- Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome (2000) (41)
- A genome-wide DNA methylation signature for SETD1B-related syndrome (2019) (41)
- A novel homozygous mutation of DARS2 may cause a severe LBSL variant (2011) (41)
- A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing (2019) (40)
- 9q34.3 deletion syndrome in three unrelated children (2004) (40)
- A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation (2014) (40)
- Paternal mosaicism of an STXBP1 mutation in OS (2011) (40)
- Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis (2017) (40)
- Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid (2006) (39)
- De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures (2016) (39)
- A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome (2004) (38)
- CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant (2010) (38)
- Somatic mutation: The hidden genetics of brain malformations and focal epilepsies (2019) (38)
- A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation (2015) (38)
- ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome (2017) (38)
- Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing (2016) (37)
- Aortic aneurysm and craniosynostosis in a family with Cantu syndrome (2014) (37)
- Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity (2012) (37)
- Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan (2010) (36)
- Congenital arhinia: Molecular‐genetic analysis of five patients (2007) (36)
- Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity (2016) (36)
- Identification of eight novel NSD1 mutations in Sotos syndrome (2003) (36)
- Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS). (1999) (36)
- On the reported 8p22‐p23.1 duplication in Kabuki make‐up syndrome (KMS) and its absence in patients with typical KMS (2004) (36)
- Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. (2016) (36)
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome (2009) (35)
- Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. (2019) (35)
- Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus‐Merzbacher‐like disease (2010) (35)
- Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy (2012) (35)
- PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels (2014) (35)
- Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly (2010) (35)
- Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome (2019) (35)
- Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit‐Robo Rho GTPase activating protein 2 (SRGAP2) (2012) (35)
- Early onset West syndrome with severe hypomyelination and coloboma‐like optic discs in a girl with SPTAN1 mutation (2012) (35)
- MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment (2017) (35)
- Mislocalization of syntaxin‐1 and impaired neurite growth observed in a human iPSC model for STXBP1‐related epileptic encephalopathy (2016) (34)
- Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations (2016) (34)
- Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder (2013) (34)
- Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders (2018) (34)
- Detection of copy number variations in epilepsy using exome data (2018) (34)
- Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy (2019) (33)
- Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome (2003) (33)
- Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. (2012) (33)
- Familial Simpson–Golabi–Behmel syndrome: studies of X‐chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations (2011) (33)
- RET oncogene amplification in thyroid cancer: correlations with radiation-associated and high-grade malignancy. (2007) (33)
- Numerous BAF complex genes are mutated in Coffin–Siris syndrome (2014) (33)
- Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. (2019) (33)
- Novel SUZ12 mutations in Weaver‐like syndrome (2018) (32)
- Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects (2009) (32)
- Dandy–Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient (2011) (32)
- Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III (2012) (32)
- Biallelic COLGALT1 variants are associated with cerebral small vessel disease (2018) (32)
- FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly (2007) (32)
- DNM1L‐related encephalopathy in infancy with Leigh syndrome‐like phenotype and suppression‐burst (2016) (32)
- A novel SLC9A1 mutation causes cerebellar ataxia (2018) (31)
- De novo DNM1 mutations in two cases of epileptic encephalopathy (2016) (31)
- The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations (2016) (31)
- Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations (2016) (31)
- A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 (2014) (30)
- Exome sequencing in a family with an X‐linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients (2013) (30)
- A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano (2006) (30)
- Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings. (2014) (30)
- Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations (2016) (30)
- Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family (2002) (30)
- De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia (2016) (30)
- De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. (2019) (30)
- X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 (2017) (30)
- Dominant mutations in ORAI 1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca 2 1 channels (2014) (30)
- Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS (2020) (30)
- RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy (2018) (30)
- Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility (2014) (30)
- Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients (2019) (29)
- Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma (2016) (29)
- A novel mutation in SLC1A3 causes episodic ataxia (2018) (29)
- Duplication of 8p23.2: a benign cytogenetic variant? (2002) (28)
- A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet (2002) (28)
- Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome (2012) (28)
- De novo SHANK3 mutation causes Rett syndrome‐like phenotype in a female patient (2015) (28)
- Novel KCNB1 mutation associated with non-syndromic intellectual disability (2016) (28)
- De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. (2018) (28)
- A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy (2017) (28)
- Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease (2019) (27)
- SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation (2020) (27)
- AKT3 and PIK3R2 mutations in two patients with megalencephaly‐related syndromes: MCAP and MPPH (2014) (27)
- De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux (2016) (27)
- Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. (2020) (27)
- Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia (2017) (27)
- A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder (2011) (27)
- Common Long Human Inversion Polymorphism on Chromosome $8p$ (2003) (27)
- Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. (2000) (26)
- Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders (2017) (26)
- Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene. (2005) (26)
- Homozygous splicing mutation in NUP133 causes Galloway–Mowat syndrome (2018) (26)
- The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus (2004) (26)
- Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36 (2008) (25)
- Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta (2015) (25)
- Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). (2014) (25)
- Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation (2013) (25)
- Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss (2014) (25)
- Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases (2018) (25)
- Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations (2014) (25)
- A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. (2019) (25)
- PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy (2018) (25)
- Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene (2001) (25)
- Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts (2017) (25)
- The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene (2019) (24)
- Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy (2014) (24)
- Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. (2019) (24)
- Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2 (2016) (24)
- Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction (2020) (24)
- Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation (2014) (24)
- Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing (2019) (24)
- Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations (2017) (23)
- A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient. (1997) (23)
- Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia (2018) (23)
- Refining chromosomal region critical for Down syndrome‐related heart defects with a case of cryptic 21q22.2 duplication (2005) (23)
- De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy (2016) (23)
- Molecular cloning and characterization of the human NUDC gene (1999) (23)
- A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma (2014) (23)
- Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia (2016) (23)
- RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. (2015) (23)
- A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract (2015) (22)
- Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss (2014) (22)
- Prenatal clinical manifestations in individuals with COL4A1/2 variants (2020) (22)
- A response to: Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient Adducted Thumb–Clubfoot Syndrome”. Which name is appropriate, “Adducted Thumb–Clubfoot Syndrome” or “Ehlers–Danlos syndrome”? (2011) (22)
- The first report of Japanese patients with asparagine synthetase deficiency (2017) (22)
- Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing (2015) (22)
- De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis (2011) (22)
- De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis (2016) (21)
- Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing (2013) (21)
- Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations (2018) (21)
- Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant (2019) (21)
- Y Chromosome–Linked B and NK Cell Deficiency in Mice (2013) (21)
- Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome (2008) (21)
- Haploinsufficiency of STXBP1 and Ohtahara syndrome (2010) (21)
- Recurrent de novo MAPK8IP3 variants cause neurological phenotypes (2019) (21)
- Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries. (2017) (21)
- Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies (2017) (20)
- Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting. (2003) (20)
- Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations. (2019) (20)
- Dysosteosclerosis is also caused by TNFRSF11A mutation (2018) (20)
- A pipeline for complete characterization of complex germline rearrangements from long DNA reads (2020) (20)
- Phenotype-genotype correlation in two patients with 12q proximal deletion (2004) (20)
- De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy (2018) (20)
- A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report (2018) (20)
- A case of severe movement disorder with GNAO1 mutation responsive to topiramate (2017) (20)
- Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32. (2004) (20)
- Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy (2017) (20)
- No detectable genomic aberrations by BAC array CGH in Kabuki make‐up syndrome patients (2006) (20)
- A large interstitial deletion of 17p13.1p11.2 involving the Smith–Magenis chromosome region in a girl with multiple congenital anomalies (2006) (19)
- Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing (2012) (19)
- Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. (2016) (19)
- A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) (2014) (19)
- MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. (2019) (19)
- A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG Syndrome (2013) (19)
- A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia (2018) (19)
- A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy (2018) (19)
- The diagnostic utility of exome sequencing in Joubert syndrome and related disorders (2012) (19)
- Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum (2018) (19)
- Craniosynostosis in a patient with a de novo 15q15‐q22 deletion (2008) (19)
- ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice (2021) (19)
- Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: Clinical features and 99mTc-ECD brain perfusion SPECT findings (2010) (19)
- A hemizygous GYG2 mutation and Leigh syndrome: a possible link? (2014) (18)
- A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot (2014) (18)
- Severe manifestations of hand‐foot‐genital syndrome associated with a novel HOXA13 mutation (2014) (18)
- Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature (2012) (18)
- SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases (2016) (18)
- Whole‐exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies (2013) (18)
- Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy (2018) (18)
- A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy (2002) (18)
- An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family (2015) (18)
- Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency (2020) (18)
- Two new cases of pure 1q terminal deletion presenting with brain malformations (2008) (18)
- Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure (2011) (18)
- Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel (2018) (18)
- De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. (2020) (18)
- Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet (1997) (18)
- Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4 (2020) (18)
- Nonsense variants in STAG2 result in distinct sex-dependent phenotypes (2019) (17)
- Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma (2019) (17)
- Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency (2017) (17)
- Functional disomy for Xq22‐q23 in a girl with complex rearrangements of chromosomes 3 and X (2003) (17)
- A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome (2017) (17)
- Characterization of SPATA5‐related encephalopathy in early childhood (2016) (17)
- Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q. (2001) (17)
- A 4q21‐q22 deletion in a girl with severe growth retardation (2002) (17)
- Whole exome sequencing of fetal structural anomalies detected by ultrasonography (2020) (17)
- Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular‐cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25 (2011) (17)
- De novo deletion of 1q24.3‐q31.2 in a patient with severe growth retardation (2010) (17)
- Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia (2013) (17)
- Screening of known disease genes in congenital scoliosis (2018) (16)
- Novel FIG4 mutations in Yunis–Varon syndrome (2013) (16)
- A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5 (2012) (16)
- A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation (2015) (16)
- Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst (2015) (16)
- Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split‐foot malformation and hearing loss (2009) (16)
- Two Nonsense Mutations of PAX6 in Two Japanese Aniridia Families: Case Report and Review of the Literature (2000) (16)
- De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms (2020) (16)
- De novo PHACTR1 mutations in West syndrome and their pathophysiological effects (2018) (16)
- Assignment of the human GLI2 gene to 2q14 by fluorescence in situ hybridization. (1996) (16)
- Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia (2017) (16)
- A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS (2012) (16)
- Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic (2018) (16)
- Novel compound heterozygous LIAS mutations cause glycine encephalopathy (2015) (16)
- Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (2017) (16)
- Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 (2021) (16)
- Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome (2006) (16)
- A novel 8-bp duplication in ADAT3 causes mild intellectual disability (2018) (16)
- Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection (2006) (16)
- A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus–Merzbacher disease (2015) (16)
- ANovel Mutation in ELOVL 4 Leading to Spinocerebellar Ataxia ( SCA ) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia A Broadened Spectrum of SCA 34 (2015) (15)
- Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations (2018) (15)
- Clinical and molecular spectrum of CHOPS syndrome (2019) (15)
- Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing (2015) (15)
- Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report (2019) (15)
- Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome (2015) (15)
- Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21–q22.1 (2008) (15)
- Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus. (2002) (15)
- Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities. (2014) (15)
- Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome (2016) (15)
- A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome (2018) (15)
- Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions (2005) (15)
- A locus for ophthalmo‐acromelic syndrome mapped to 10p11.23 (2009) (15)
- De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment (2008) (15)
- Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42 (2019) (15)
- A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies (2018) (15)
- Panventriculomegaly with a wide foramen of Magendie and large cisterna magna: clinical, radiological, and genetic analysis (2015) (15)
- A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. (2017) (14)
- Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum (2017) (14)
- Congenital neuroblastoma in a patient with partial trisomy of 2p. (2006) (14)
- The magnetic resonance imaging spectrum of Pelizaeus–Merzbacher disease: A multicenter study of 19 patients (2016) (14)
- A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum (2018) (14)
- Angelman syndrome caused by an identical familial 1,487‐kb deletion (2007) (14)
- A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia (2018) (14)
- Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan (2009) (14)
- A homozygous NOP14 variant is likely to cause recurrent pregnancy loss (2018) (14)
- Three patients with Schaaf–Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities (2018) (14)
- Electroclinical features of epileptic encephalopathy caused by SCN8A mutation (2015) (14)
- Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation. (2014) (14)
- A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia (2010) (14)
- Genetics: Clinical exome sequencing in neurology practice (2014) (14)
- A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay (2014) (14)
- Efficacy of long term weekly ACTH therapy for intractable epilepsy (2015) (14)
- GRIN2D variants in three cases of developmental and epileptic encephalopathy (2018) (14)
- Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy (2020) (14)
- Mandibulofacial dysostosis with microcephaly: A case presenting with seizures (2017) (14)
- Hypothalamic pituitary complications in Kabuki syndrome (2013) (14)
- Coffin‐Siris syndrome and cardiac anomaly with a novel SOX11 mutation (2018) (14)
- GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies (2021) (13)
- Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1) (2006) (13)
- A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy (2004) (13)
- Phenotype–genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms (2019) (13)
- Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy (2020) (13)
- Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan (2008) (13)
- Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism (2016) (13)
- Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis (2019) (13)
- Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type (2016) (13)
- Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy (2014) (13)
- Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation (2021) (13)
- A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features (2018) (13)
- Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy. (2018) (13)
- Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. (2019) (12)
- Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing (2021) (12)
- Dermatan 4‐O‐sulfotransferase 1‐deficient Ehlers–Danlos syndrome complicated by a large subcutaneous hematoma on the back (2016) (12)
- A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. (2007) (12)
- A novel de novo frameshift variant in SETD1B causes epilepsy (2019) (12)
- A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders (2020) (12)
- The diagnostic utility of exome sequencing in Joubert syndrome and related disorders (2015) (12)
- First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations (2016) (12)
- Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy (2015) (12)
- Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease (2015) (12)
- A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia (2018) (12)
- Vein of Galen Aneurysmal Malformation in Monozygotic Twin. (2016) (12)
- Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report (2016) (12)
- Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series (2014) (12)
- Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita (2015) (12)
- Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17) (2016) (12)
- A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). (2012) (12)
- A unique case of de novo 5q33.3–q34 triplication with uniparental isodisomy of 5q34–qter (2013) (12)
- Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy (2016) (12)
- Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review (2018) (12)
- Long-read sequencing identifies GGC repeat expansion in human-specific NOTCH2NLC associated with neuronal intranuclear inclusion disease (2019) (11)
- Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses (2020) (11)
- Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome (2020) (11)
- De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies (2018) (11)
- Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy. (2022) (11)
- A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl (2018) (11)
- A de novo deletion of 20q11.2–q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty (2011) (11)
- A Japanese patient with RAD51‐associated Fanconi anemia (2019) (11)
- Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head (2017) (11)
- Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome (2015) (11)
- A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly (2020) (11)
- A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy (2015) (11)
- De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies (2018) (11)
- Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals (2015) (11)
- Loss of heterozygosity on chromosome 9q22.3 in microdissected basal cell carcinomas around the Semipalatinsk Nuclear Testing Site, Kazakhstan. (2004) (11)
- Succinate dehydrogenase B‐deficient renal cell carcinoma: A case report with novel germline mutation (2017) (10)
- Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy (2021) (10)
- Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy (2011) (10)
- Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex (2017) (10)
- FDG-PET study of patients with Leigh syndrome (2016) (10)
- A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia (2011) (10)
- Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms (2021) (10)
- Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) (2021) (10)
- A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition (2016) (10)
- A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy (2018) (10)
- Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder (2015) (10)
- Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive. (2018) (10)
- Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome. (2020) (10)
- A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK (2017) (10)
- PRUNE1‐related disorder: Expanding the clinical spectrum (2018) (10)
- ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children (2020) (10)
- The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting. (2002) (10)
- Co‐occurrence of 22q11 deletion syndrome and hdr syndrome (2013) (10)
- Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy (2021) (10)
- Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family. (2005) (10)
- Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia (2008) (10)
- Functional characterization of the zebrafish WHSC1-related gene, a homolog of human NSD2. (2010) (10)
- The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins (2020) (10)
- Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. (2013) (9)
- Dual genetic diagnoses: Atypical hand‐foot‐genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1 (2016) (9)
- Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting. (1996) (9)
- Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. (1998) (9)
- Renal complications in 6p duplication syndrome: Microarray‐based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS) (2015) (9)
- Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder (2021) (9)
- Different X‐linked KDM5C mutations in affected male siblings: is maternal reversion error involved? (2016) (9)
- De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy (2020) (9)
- A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction (2020) (9)
- Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease (2019) (9)
- Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage? (2014) (9)
- Behçet's disease with a somatic UBA1 variant: Expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome. (2022) (9)
- Clinical and genetic characteristics of patients with Doose syndrome (2020) (9)
- Alu‐related 5q35 microdeletions in Sotos syndrome (2008) (9)
- Familial schwannomatosis with a germline mutation of SMARCB1 in Japan (2015) (9)
- A familial case of PDE10A‐associated childhood‐onset chorea with bilateral striatal lesions (2018) (9)
- Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria (2018) (9)
- Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment. (2021) (9)
- Neuroradiologic Findings in Sotos Syndrome (2006) (9)
- Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation (2018) (9)
- RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy (2014) (9)
- Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome (2019) (9)
- Stereotypic Hand Movements in β‐Propeller Protein‐Associated Neurodegeneration: First Video Report (2015) (9)
- Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa (2011) (9)
- A novel SCARB2 mutation causing late‐onset progressive myoclonus epilepsy (2013) (9)
- A novel PITX2 mutation causing iris hypoplasia (2014) (9)
- The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation (2017) (9)
- An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination (2017) (9)
- Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants (2022) (9)
- A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever (2017) (9)
- Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants (2021) (8)
- A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge–Weber syndrome (2021) (8)
- Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities (2018) (8)
- SOFT syndrome in a patient from Chile (2019) (8)
- Confirmation of SLC5A7‐related distal hereditary motor neuropathy 7 in a family outside Wales (2018) (8)
- Nonsense variants of STAG2 result in distinct congenital anomalies (2020) (8)
- Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy (2020) (8)
- Assignment of the human beta-microseminoprotein gene (MSMB) to chromosome 10q11.2. (1996) (8)
- Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease (2019) (8)
- Choreo–ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene (2010) (8)
- FISH mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia (1997) (8)
- A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. (2018) (8)
- Whole genome sequencing of 45 Japanese patients with intellectual disability (2021) (8)
- ‘Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing (2014) (8)
- Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology (2022) (8)
- Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease (2022) (8)
- A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation (2018) (8)
- Characterization of the promoter region, first ten exons and nine intron-exon boundaries of the DNA-dependent protein kinase catalytic subunit gene, DNA-PKcs (XRCC7). (1997) (8)
- Nevo syndrome with an NSD1 deletion: A variant of Sotos syndrome? (2006) (7)
- Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation (2017) (7)
- Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil (2020) (7)
- DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2‐DMR0 as a DNA methylation‐dependent, P0 promoter‐specific enhancer (2019) (7)
- A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy (2019) (7)
- Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis (2021) (7)
- A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images – A first case of CLCN2-related leukoencephalopathy in Japan (2019) (7)
- Leaky splicing variant in sepiapterin reductase deficiency (2019) (7)
- Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7) (2015) (7)
- Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (2021) (7)
- [Ruptured Aneurysm of an Aplastic or Twig-like Middle Cerebral Artery with Ring Finger Protein 213 Mutation:A Case Report]. (2020) (7)
- Valine metabolites analysis in ECHS1 deficiency (2021) (7)
- Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder (2018) (7)
- Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures (2022) (7)
- Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome (2019) (7)
- Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype (2006) (7)
- De novo ATP1A3 variants cause polymicrogyria (2021) (7)
- Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 (2019) (7)
- The first genetically confirmed Japanese patient with mucolipidosis type IV (2016) (7)
- Comparison of mitochondrial DNA variants detection using short- and long-read sequencing (2019) (7)
- A recurrent homozygous NHLRC1 variant in siblings with Lafora disease (2018) (6)
- DNA‐based prenatal carrier detection for group a xeroderma pigmentosum in a chorionic villus sample (1995) (6)
- Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy (2019) (6)
- Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients. (2019) (6)
- Malignant hyperthermia and cerebral venous sinus thrombosis following ventriculoperitoneal shunt in an infant with schizencephaly and COL4A1 mutation. (2019) (6)
- Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. (2019) (6)
- A 4‐Mb critical region for intrauterine growth retardation at 15q26 (2002) (6)
- Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads (2018) (6)
- Multiple alterations in glutamatergic transmission and dopamine D2 receptor splicing in induced pluripotent stem cell-derived neurons from patients with familial schizophrenia (2021) (6)
- Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder (2021) (6)
- Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening. (2018) (6)
- Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation (2015) (6)
- The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype (2019) (6)
- The second point mutation in PREPL: a case report and literature review (2018) (6)
- GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons (2020) (6)
- SLC4A2 Deficiency Causes a New Type of Osteopetrosis (2021) (6)
- CDKL5 disruption by t(X;18) in a girl with West syndrome (2008) (6)
- A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene (2018) (6)
- A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation (2017) (6)
- Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations (2017) (6)
- Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome. (2011) (6)
- Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification (2018) (6)
- Unmasking 15q12 deletion using microarray‐based comparative genomic hybridization in a mentally retarded boy with r(Y) (2004) (6)
- SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. (2022) (5)
- A novel LRP6 variant in a Japanese family with oligodontia (2021) (5)
- Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1 (1997) (5)
- Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation (2019) (5)
- Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. (1997) (5)
- Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction (2020) (5)
- Klippel‐Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome? (2005) (5)
- Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation (2016) (5)
- Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia (2002) (5)
- White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria (2016) (5)
- Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome. (2022) (5)
- Phenotypic and molecular insights into PQBP1‐related intellectual disability (2018) (5)
- A case of cerebral hypomyelination with spondylo‐epi‐metaphyseal dysplasia (2013) (5)
- Pathogenic MAST3 variants in the STK domain are associated with epilepsy (2021) (5)
- A Case of Schizophrenia with Chromosomal Microdeletion of 17p11.2 Containing a Myelin-Related Gene PMP22 (2008) (5)
- A girl with Down syndrome and partial trisomy for 21pter‐q22.13: A clue to narrow the Down syndrome critical region (2008) (5)
- Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation (2019) (5)
- Early‐onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2 (2017) (5)
- KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report (2020) (5)
- Confirmation of Down syndrome critical region by FISH analysis in a patient with add(21) (p11) (1995) (4)
- Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism (2018) (4)
- De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality. (2021) (4)
- Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation (2016) (4)
- Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS) (2019) (4)
- A case of VEXAS syndrome with Sweet's disease and pulmonary involvement (2022) (4)
- Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders (2021) (4)
- De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies (2020) (4)
- Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation. (2017) (4)
- Clinical variations of epileptic syndrome associated with PACS2 variant (2020) (4)
- A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21 (2019) (4)
- Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature (2019) (4)
- Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability (2021) (4)
- Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations (2018) (4)
- MLL2 and KDM6A Mutations in Patients With (2013) (4)
- Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype (2021) (4)
- Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features (2021) (4)
- Regulation of human development by ubiquitin chain editing of chromatin remodelers (2020) (3)
- An atypical case of KMT2B‐related dystonia manifesting asterixis and effect of deep brain stimulation of the globus pallidus (2020) (3)
- De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features (2020) (3)
- Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome (2022) (3)
- Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome (2019) (3)
- Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review (2020) (3)
- Rudimentary claws and pigmented nail-like structures on the distal tips of the digits of Wnt7a mutant mice: Wnt7A suppresses nail-like structure development in mice. (2010) (3)
- The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A (2019) (3)
- Decreased serum dependence in the growth of NIH3T3 cells from the overexpression of human nuclear receptor‐binding SET‐domain‐containing protein 1 (NSD1) or fission yeast su(var)3‐9, enhancer‐of‐zeste, trithorax 2 (SET2) (2008) (3)
- Life-threatening muscle complications of COL4A1-related disorder (2019) (3)
- Chromosome 1q deletion and congenital glaucoma (2005) (3)
- Isolation of microdissection clones from rat Chromosome 10 (1995) (3)
- OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation (2021) (3)
- Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita (2020) (3)
- Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions (2022) (3)
- Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation. (2017) (3)
- Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in SGCE (2015) (3)
- RALA mutation in a patient with autism spectrum disorder and Noonan syndrome‐like phenotype (2019) (3)
- Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population (2019) (3)
- An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome (2019) (3)
- Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene (2018) (3)
- Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics (2021) (3)
- De Novo 17q24.2–q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features (2015) (3)
- A case of Toriello–Carey syndrome with severe congenital tracheal stenosis (2013) (3)
- West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother (2019) (3)
- Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder (2017) (3)
- Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report (2020) (3)
- Progressive cerebral atrophies in three children with COL4A1 mutations (2021) (3)
- Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report (2020) (3)
- Limb-clasping, cognitive deficit and increased vulnerability to kainic acid-induced seizures in neuronal glycosylphosphatidylinositol deficiency mouse models (2021) (3)
- Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant (2022) (3)
- A patient with Muenke syndrome manifesting migrating neonatal seizures (2017) (3)
- Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation (2020) (3)
- Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing. (2020) (3)
- A method for complete characterization of complex germline rearrangements from long DNA reads (2019) (3)
- Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency (2020) (3)
- Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings (2021) (2)
- VEXAS syndrome (2022) (2)
- Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy (2017) (2)
- Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome (2022) (2)
- A Male Case with ò-Propeller Protein-Associated Neurodegeneration(BPAN) with Somatic Mosaic Mutation in WDR45 (2016) (2)
- Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1‐RUNX1T1 transcripts (2021) (2)
- Physical map of a YAC contig containing the region of the human gene (HYRC) complementing hyper-radiosensitivity of the scid mouse mutation (1996) (2)
- Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes (2022) (2)
- Effect of total callosotomy on KCNQ2-related intractable epilepsy (2020) (2)
- Response to Lefebvre et al (2017) (2)
- Assignment of the human connexin43 gene, GJA1, to chromosome 6q22.3 (1997) (2)
- A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS). (2020) (2)
- A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. (2022) (2)
- Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation (2019) (2)
- COG1‐congenital disorders of glycosylation: Milder presentation and review (2021) (2)
- Expanding the KIF4A ‐associated phenotype (2021) (2)
- Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood (2013) (2)
- Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing (2019) (2)
- Novel VRK 1 Mutations in a Patient with Childhood-onset Motor Neuron Disease (2019) (2)
- Polymicrogyria in a child with KCNMA1-related channelopathy (2021) (2)
- A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in‐frame deletion (2021) (2)
- COG1-CDG: milder presentation and review. (2021) (2)
- Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia (2021) (2)
- Panventriculomegaly with a wide foramen of Magendie and large cisterna magna: clinical, radiological, and genetic analysis (2015) (2)
- Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome (2020) (2)
- PHAGOCYTES , GRANULOCYTES , AND MYELOPOIESIS Essential role of the IRF 8-KLF 4 transcription factor cascade in murine monocyte differentiation (2013) (2)
- De novo mutations in epilepsy (2011) (2)
- Cerebrovascular diseases in two patients with entire NSD1 deletion (2021) (2)
- De novo heterozygous variants in KIF5B cause kyphomelic dysplasia (2022) (2)
- Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases (2018) (2)
- TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia (2016) (2)
- Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency (2018) (2)
- Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. (2022) (2)
- Erratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations (2017) (2)
- Identification of SMARCD1 as a syndromic intellectual disability gene that is required for memory and context-dependent regulation of neuronal genes in Drosophila (2018) (2)
- Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions (2021) (1)
- Clinical images: VEXAS syndrome presenting as treatment‐refractory polyarteritis nodosa (2022) (1)
- Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome (2004) (1)
- Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant (2021) (1)
- [Congenital factor V and factor VIII deficiency discovered in an elderly patient with abnormal bleeding after trauma]. (2018) (1)
- Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population (2021) (1)
- The identification of two pathogenic variants in a family with mild and severe forms of developmental delay (2020) (1)
- PEX10-related autosomal recessive cerebellar ataxia with hearing loss (2018) (1)
- De novo pathogenic DHX30 variants in two cases (2021) (1)
- A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face (2021) (1)
- Reply to “Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders” (2019) (1)
- Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes (2020) (1)
- Reply to "GGC Repeat Expansion of NOTCH2NLC is rare in European Leukoencephalopathy". (2020) (1)
- Duplication (22)(q11.22‐q11.23) without coloboma and cleft lip or palate (2003) (1)
- Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7 (2021) (1)
- Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome (2022) (1)
- DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis (2015) (1)
- Author response for " GRIN2D variants in three cases of developmental and epileptic encephalopathy" (2018) (1)
- [Acute lymphoblastic leukemia in a pediatric patient with Marfan's syndrome]. (2011) (1)
- A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor (2020) (1)
- Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling (2021) (1)
- [A case of novel WDR45 mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs]. (2020) (1)
- Intellectual disability and microcephaly associated with a novel CHAMP1 mutation (2021) (1)
- Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3 (2019) (1)
- Novel variants of ABCC9 in Japanese children with Cantú syndrome (2020) (1)
- COL4A1 and COL4A2 Mutations Analyses with Perinatal Arterial ?schemic Stroke (2020) (1)
- Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions (2022) (1)
- Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome. (2022) (1)
- RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy (2018) (1)
- No mutation in RAS‐MAPK pathway genes in 30 patients with Kabuki syndrome (2008) (1)
- De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies (2018) (1)
- A partial ARID1B deletion in a female child with intractable epilepsy (2021) (1)
- Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant (2020) (1)
- Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy (2021) (1)
- Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype. (2022) (1)
- Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature (2022) (1)
- Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome (2021) (1)
- Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency. (2020) (1)
- A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia (2018) (1)
- CHAMP1 Mutations cause Refractory Infantile Myoclonic Epilepsy (2019) (1)
- Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome. (2022) (1)
- A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30 (2021) (1)
- Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals (2016) (1)
- Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion (2022) (1)
- Novel CLTC variants cause new brain and kidney phenotypes (2021) (1)
- Williams–Beuren syndrome with brain malformation and hypertrophic cardiomyopathy (2014) (1)
- Distal 2q duplication in a patient with intellectual disability (2022) (1)
- Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion (2021) (1)
- Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities. (2021) (1)
- Dravet syndrome (severe myoclonic epilepsy of infancy) (2009) (1)
- Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation (2020) (1)
- Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia (2020) (1)
- NSD1 haploinsufficiency evokes DNA hypomethylation at imprinted DMRs and the increased expression of imprinted genes. (2016) (0)
- A recurrent homozygous NHLRC1 variant in siblings with Lafora disease (2018) (0)
- Long-read sequencing for rare human genetic diseases (2019) (0)
- The ATRX splicing variant c.21-1G>A is asymptomatic (2022) (0)
- Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans (2023) (0)
- Figure 3, Characterization of mutant STXBP1 proteins and mRNAs with aberrant splicing (2012) (0)
- Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. (2022) (0)
- Ketogenic diet for focal epilepsy with. (2022) (0)
- PEX10-related autosomal recessive cerebellar ataxia with hearing loss (2018) (0)
- RETRACTED ARTICLE: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes (2019) (0)
- Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 (2019) (0)
- Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant (2022) (0)
- Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants (2022) (0)
- Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features (2021) (0)
- Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing (2015) (0)
- KCNT2-related disorders: phenotypes, functional and pharmacological properties. (2023) (0)
- Obituary Norio Niikawa, M.D., Ph.D., 1942–2022 (2022) (0)
- Any modality of renal replacement therapy can be a treatment option for Joubert syndrome (2021) (0)
- A novel mutation in SLC1A3 causes episodic ataxia (2017) (0)
- Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization (2007) (0)
- A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant (2021) (0)
- [Genomic microarray analysis of human diseases]. (2010) (0)
- [RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome]. (2022) (0)
- Abnormal Endosome System Equilibrium in MIRAGE Syndrome Caused by Activating SAMD9 Mutations (2015) (0)
- A message for 2015 (2015) (0)
- Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing (2011) (0)
- Chapter 1 General introduction Chapter 3 NSD 1 and Sotos Syndrome (2011) (0)
- A novel 8-bp duplication in ADAT3 causes mild intellectual disability (2018) (0)
- A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy (2018) (0)
- The 2018 JHG Young Scientist Award (2018) (0)
- Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K Variant (2022) (0)
- Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome? (2001) (0)
- Figure 1, Summary of STXBP1 mutations found in Japanese individuals with OS (2012) (0)
- Cerebrovascular diseases in two patients with entire NSD1 deletion (2021) (0)
- A message from the new Editor-in-Chief (2014) (0)
- Identification of autism susceptibility candidates on 7q (2000) (0)
- Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (2020) (0)
- A novel de novo frameshift variant in SETD1B causes epilepsy (2019) (0)
- Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. (2023) (0)
- Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing (2022) (0)
- De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism (2018) (0)
- The 2017 JHG Young Scientist Award (2017) (0)
- A novel LRP6 variant in a Japanese family with oligodontia (2021) (0)
- A hemizygous GYG2 mutation and Leigh syndrome: a possible link? (2013) (0)
- [Genetic testing for Marfan syndrome]. (2005) (0)
- [A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene]. (2022) (0)
- Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome (2019) (0)
- Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease (2022) (0)
- P147 – 2569: Adenylosuccinate lyase deficiency presenting as a paroxysmal movement disorder (2015) (0)
- Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia (2021) (0)
- Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling. (2023) (0)
- A Novel Cycs Missense Mutation in the α-Helix of the Cycs C-Terminal Domain Causes Non-Syndromic Thrombocytopenia (2018) (0)
- Unsuccessful Identification of Mutations in Genes Involving the RAS-MAPK Pathway among 30 Patients with Kabuki Syndrome (2008) (0)
- Figure 2, Brain MRI scan and EEG of OS patients with STXBP1 aberrations (2012) (0)
- A message for 2020 (2020) (0)
- Any modality of renal replacement therapy can be a treatment option for Joubert syndrome (2021) (0)
- Dysosteosclerosis is also caused by TNFRSF11A mutation (2018) (0)
- A novel SLC9A1 mutation causes cerebellar ataxia (2018) (0)
- Limb-clasping, cognitive deficit and increased vulnerability to kainic acid - induced seizures in neuronal GPI anchor deficiency mouse models (2020) (0)
- Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy. (2022) (0)
- Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality (2023) (0)
- A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants (2023) (0)
- TGF-β and Genetic Skeletal Diseases (2013) (0)
- Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2. (2020) (0)
- A message for 2017 (2017) (0)
- A rare homozygous missense mutation of COL7A1 in a Vietnamese family (2022) (0)
- The Liberfarb syndrome, a multisystem disorder including early-onset retinal degeneration, is caused by a founder mutation in the PISD gene in patients from Portugal, Brazil, and the Azores islands (2019) (0)
- A genome-wide DNA methylation signature for SETD1B-related syndrome (2019) (0)
- A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder (2020) (0)
- Association of biallelic RFC1 expansion with early‐onset Parkinson's disease (2023) (0)
- X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 (2017) (0)
- A rare homozygous missense mutation of COL7A1 in a Vietnamese family (2022) (0)
- Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (2022) (0)
- Erratum to: PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy (2014) (0)
- Table 1, Summary of Clinical Features of Subjects with STXBP1 Deletion/Mutations (2012) (0)
- Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate (2021) (0)
- Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease (2022) (0)
- Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy (2019) (0)
- Advance in genetic study of Pervasive Developmental Disorder (2009) (0)
- The Detection of Minor Clones with Somatic KIT D816V Mutations Using Droplet Digital PCR in Pediatric De Novo AML: AML-05 Trial from the Japanese Pediatric Leukemia/Lymphoma Study Group (2019) (0)
- A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features (2018) (0)
- Table of Contents, Volume 170A, Number 8, August 2016 (2016) (0)
- Author response for "Pathogenic variants in the SMN complex gene GEMIN5 cause cerebellar atrophy" (2021) (0)
- KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (2018) (0)
- Adult-onset vocal cord paralysis in slow-channel congenital myasthenic syndrome. (2019) (0)
- Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations (2018) (0)
- A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance (2012) (0)
- Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy (2021) (0)
- Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism (2023) (0)
- Gene Analysis of Marfan Syndrome (2009) (0)
- [Spontaneous disappearance of the inhibitor during emicizumab therapy in a patient with mild hemophilia A]. (2022) (0)
- A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy (2019) (0)
- Inherited GPI-Anchor Deficiencies Caused By The Hypomorphic Mutations In PIG A gene: Comparison To Paroxysmal Nocturnal Hemogrobinuria (2013) (0)
- Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants (2022) (0)
- Author response for "A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading in‐frame deletion" (2020) (0)
- Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy (2018) (0)
- A novel NONO variant that causes developmental delay and cardiac phenotypes (2023) (0)
- The 2016 JHG Young Scientist Award (2017) (0)
- PRUNE1-related rerlated disorder: expanding the clinical spectrum. (2018) (0)
- A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndorome Critical Region (PWCR) (2000) (0)
- Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment. (2021) (0)
- Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant (2021) (0)
- Characterization of a novel rearrangement from the ret/PTC family in a case of radiation-associated human thyroid papillary carcinoma (2003) (0)
- ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report (2022) (0)
- P15 – 1733 A novel SCN2A missense mutation in a Slovenian girl with early-onset epileptic encephalopathy (2013) (0)
- Intellectual disability and microcephaly associated with a novel CHAMP1 mutation (2021) (0)
- Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome. (2023) (0)
- Molecular diagnosis of 405 individuals with autism spectrum disorder. (2023) (0)
- Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy (2022) (0)
- A case of epilepsy of infancy with migrating focal seizures caused by mosaic SCN2A mutation (2022) (0)
- [Cloning of genes responsible for single gene disorders]. (2010) (0)
- A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing (2022) (0)
- A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21 (2019) (0)
- A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8 (2022) (0)
- A message for 2018 (2018) (0)
- The 2018 JHG Young Scientist Award (2018) (0)
- The ATRX splicing variant c.21-1G>A is asymptomatic (2022) (0)
- A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing (2019) (0)
- Table 2. [SMARCB1 Variants Discussed in This GeneReview]. (2016) (0)
- Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family (2022) (0)
- A dup(13)(q31.2-qter)without abnormalities of hands or feet (2005) (0)
- Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic (2018) (0)
- Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants (2023) (0)
- Novel CLTC variants cause new brain and kidney phenotypes (2021) (0)
- Impact of skin color on phenotypes of dyschromatosis symmetrica hereditaria and Aicardi-Goutieres syndrome 6 caused by ADAR1 mutations (2017) (0)
- A Case Report Of 4H Syndrome Probably Caused By A Heterozygous Abnormality Of The POLR3A Gene With Preserved Intellectual Function (P7.327) (2014) (0)
- Monogenic causes of pigmentary mosaicism (2022) (0)
- NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy (2023) (0)
- Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome. (2023) (0)
- Nonsense variants of STAG2 result in distinct congenital anomalies. (2020) (0)
- Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion (2022) (0)
- A 2‐year‐old patient with a diffuse intrinsic pontine glioma and radiation‐induced moyamoya syndrome (2020) (0)
- [Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system]. (2016) (0)
- A homozygous NOP14 variant is likely to cause recurrent pregnancy loss (2018) (0)
- A message for 2019 (2019) (0)
- Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy (2022) (0)
- Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism (2018) (0)
- JSCN ICNC 2016 Travel Award (2016) (0)
- Refinement of the clinical variant interpretation framework by statistical evidence and machine learning. (2021) (0)
- Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication (2022) (0)
- Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies (2017) (0)
- Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3 (2014) (0)
- Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant (2021) (0)
- Synchronous Heart Rate Reduction with Suppression-Burst Pattern in KCNT1-Related Developmental and Epileptic Encephalopathies. (2023) (0)
- Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family (2022) (0)
- Osteogenic transdifferentiation as ideal in vivo model for inherited hypomyelination with spondylometaphyseal dysplasia (H-SMD) (2017) (0)
- Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome (2023) (0)
- Probe for the diagnosis of Marfan syndrome, as well as methods for screening with the probe (2005) (0)
- A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30 (2021) (0)
- Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities (2018) (0)
- A message for 2016 (2016) (0)
- Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant. (2022) (0)
- Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis (2019) (0)
- Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing (2021) (0)
- Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement (2017) (0)
- Cono‐spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder (2014) (0)
- Isolation ofBAC clones spanning theXq22.3 translocation breakpoint inalissencephaly patient with adenovo X;2translocation (1998) (0)
- A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation (2023) (0)
- Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8 (2023) (0)
- OP15 – 2728: The epileptic encephalopathy of IQSEC2 mutations (2015) (0)
- Advance in genome analysis for human diseases (2009) (0)
- 154 : The IRF8-KLF4 transcription factor cascade is essential for the development of monocytes (2013) (0)
- Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease (2019) (0)
- Characteristic features of electroencephalogram in a pediatric patient with GRIN1 encephalopathy (2022) (0)
- Callosal disconnection syndrome in symptomatic female carrier of Pelizaeus–Merzbacher disease (2015) (0)
- A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies (2018) (0)
- The identification of two pathogenic variants in a family with mild and severe forms of developmental delay (2020) (0)
- MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration (2020) (0)
- Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification (2018) (0)
- The 2017 JHG Young Scientist Award (2017) (0)
- Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome (2022) (0)
- Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome (2020) (0)
- Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability (2017) (0)
- 744 Japans initiative on rare and undiagnosed diseases patients: To bring their diagnostic odyssey to an end, and beyond (2018) (0)
- Figure 1. [Coffin-Siris syndrome classic featuresFacial features...]. (2016) (0)
- Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant (2020) (0)
- Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4 (2020) (0)
- PP11.9 – 2265: Disparities in cognitive domains seen in patients with Kabuki syndrome (2015) (0)
- Basal ganglia calcification in a patient with static encephalopathy of childhood with neurodegeneration in adulthood/β‐propeller protein‐associated neurodegeneration (2020) (0)
- Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures (2019) (0)
- Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder (2023) (0)
- An integrated genetic analysis of epileptogenic brain malformed lesions (2023) (0)
- Cerebral gigantism with histone methyl transferase abnormality: Sotos syndrome (2007) (0)
- The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene (2019) (0)
- CRISPR Gene Editing Successfully Treats Lethal Monogenic Lung Disease in Utero (2019) (0)
- Whole genome approach followed by panel discussion: whole genome approach to the epilepsy-related gene (Proceeding of the intensive course for translational science: to translate extensive basic research data into clinical research and practice) (2010) (0)
- Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1 (2022) (0)
- Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome (2019) (0)
- The second point mutation in PREPL: a case report and literature review (2018) (0)
- Erratum to: PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy (2014) (0)
- Identification of Disease Gene for Camurati-Engelmann Disease, Type II (2022) (0)
- Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes (2023) (0)
- Genotype & Phenotype of Ohtahara Syndrome-What's SCN2A Got to Do With It? A Clinician's Read (2014) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Coffin-Siris Syndrome]. (2016) (0)
- Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant (2019) (0)
- NSD1 and Sotos Syndrome (2016) (0)
- PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy (2013) (0)
- Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing (2022) (0)
- Whole exome sequencing revealed a mutation in COL6A1 associated with ullrich congenital muscular dystrophy (2021) (0)
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What Schools Are Affiliated With Naomichi Matsumoto?
Naomichi Matsumoto is affiliated with the following schools:
