Tim-matthias Strom
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Tim-matthias Strombiology Degrees
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Philosophy Biology
Tim-matthias Strom's Degrees
- PhD Neuroscience Stanford University
- Doctorate Medicine Stanford University
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(Suggest an Edit or Addition)Tim-matthias Strom's Published Works
Number of citations in a given year to any of this author's works
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
- Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology (2004) (2782)
- Genomewide association analysis of coronary artery disease. (2007) (2067)
- Transcriptome and genome sequencing uncovers functional variation in humans (2013) (1758)
- Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23 (2000) (1386)
- Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2 (2004) (1140)
- A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets (1995) (1005)
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study (2012) (954)
- The genetic architecture of type 2 diabetes (2016) (927)
- Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment (2004) (908)
- An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita (1994) (835)
- Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine (2005) (796)
- A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. (2011) (778)
- Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism (1994) (759)
- Genome-wide, large-scale production of mutant mice by ENU mutagenesis (2000) (696)
- Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia (2015) (637)
- Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. (2006) (604)
- Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. (2014) (514)
- DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis (2006) (507)
- Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. (2001) (482)
- An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness (1998) (480)
- Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. (1998) (465)
- An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (2005) (464)
- Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension (2013) (464)
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
- Mutations in the deubiquitinase gene USP8 cause Cushing's disease (2014) (412)
- Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome (2001) (397)
- Genetic diagnosis of Mendelian disorders via RNA sequencing (2017) (385)
- Polypeptide GalNAc-transferase T3 and Familial Tumoral Calcinosis (2006) (359)
- An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics (2018) (331)
- Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. (2010) (326)
- Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. (2006) (321)
- Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. (2014) (320)
- Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants (2013) (320)
- Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. (2012) (313)
- Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis (2000) (309)
- Development of a high density 600K SNP genotyping array for chicken (2013) (308)
- A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation (1999) (290)
- Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. (2001) (253)
- FGF23 is processed by proprotein convertases but not by PHEX. (2004) (243)
- SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy (2009) (242)
- Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma (2014) (240)
- Dysfunctional nitric oxide signalling increases risk of myocardial infarction (2013) (234)
- Characterization of circular RNAs in human, mouse and rat hearts. (2016) (230)
- Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. (2010) (225)
- Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. (2011) (224)
- Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. (2012) (217)
- A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array (2014) (212)
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. (2012) (201)
- Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. (1997) (199)
- A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. (1997) (198)
- Classic Selective Sweeps Revealed by Massive Sequencing in Cattle (2014) (197)
- Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease (2013) (195)
- NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (2016) (195)
- Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. (2011) (195)
- The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. (2001) (192)
- Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. (2009) (189)
- Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). (1997) (189)
- Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis (2007) (189)
- Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. (2012) (187)
- Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy (2008) (184)
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing (2012) (180)
- Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies (2011) (179)
- PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. (2014) (174)
- KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism (2012) (171)
- The genomic landscape of hepatoblastoma and their progenies with HCC-like features. (2014) (170)
- Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. (2012) (170)
- Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repair (2015) (169)
- Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. (2014) (166)
- Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia (2015) (165)
- Novel (ovario) leukodystrophy related to AARS2 mutations (2014) (165)
- GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects (2017) (158)
- Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. (2011) (157)
- Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. (2013) (156)
- Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders (2017) (156)
- The Autosomal Dominant Hypophosphatemic Rickets (ADHR) Gene Is a Secreted Polypeptide Overexpressed by Tumors that Cause Phosphate Wasting (2001) (153)
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (153)
- The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted (2003) (152)
- Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. (1997) (149)
- Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. (2008) (147)
- Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits (2010) (143)
- ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature (2013) (140)
- Hot-spot KIF5A mutations cause familial ALS (2018) (136)
- Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. (2007) (136)
- Myoclonus–dystonia syndrome: ε‐sarcoglycan mutations and phenotype (2002) (132)
- Transcriptional regulator PRDM12 is essential for human pain perception (2015) (132)
- Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (2013) (128)
- Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy (2017) (125)
- ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. (2013) (124)
- A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism (2018) (124)
- Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. (2011) (123)
- Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery (2009) (123)
- Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. (2016) (121)
- Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. (2014) (119)
- Common genetic variants associate with serum phosphorus concentration. (2010) (114)
- Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 (2016) (114)
- CpG-Methylation Regulates a Class of Epstein-Barr Virus Promoters (2010) (112)
- Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency (2016) (110)
- A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants (2012) (105)
- Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. (2017) (103)
- PHEX, FGF23, DMP1 and beyond (2008) (102)
- NEK1 mutations in familial amyotrophic lateral sclerosis. (2016) (101)
- CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism (2016) (101)
- Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy (2015) (98)
- A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree (2001) (97)
- CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. (2015) (96)
- Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. (2010) (94)
- Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration (2014) (93)
- Monogenic variants in dystonia: an exome-wide sequencing study (2020) (93)
- Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss (2017) (92)
- Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings (2013) (92)
- Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing (2016) (90)
- Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. (2014) (89)
- Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. (2013) (87)
- Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement (2015) (86)
- Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts (2016) (86)
- Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. (2014) (85)
- Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up (2017) (85)
- VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies (2014) (84)
- Comparison of Plasma Atrial Natriuretic Peptide Levels in Healthy Children from Birth to Adolescence and in Children with Cardiac Diseases1 (1986) (83)
- Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. (2016) (83)
- DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. (2012) (82)
- Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. (2012) (82)
- Evidence for further genetic locus heterogeneity and confirmation of RLS‐1 in restless legs syndrome (2006) (82)
- CAD mutations and uridine-responsive epileptic encephalopathy (2017) (82)
- TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies (2015) (81)
- Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome (2012) (80)
- Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. (2016) (80)
- Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice (2009) (79)
- High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. (2011) (79)
- De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum (2014) (79)
- Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas. (2016) (78)
- Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. (2007) (76)
- Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island. (2015) (76)
- MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast (2013) (75)
- Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. (2010) (75)
- Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. (2017) (75)
- Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome (2014) (75)
- Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. (2001) (74)
- Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. (2015) (74)
- Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene. (2000) (73)
- Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. (2012) (73)
- COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency (2015) (73)
- Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. (2014) (72)
- Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations (2006) (72)
- Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration (2018) (68)
- De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. (2016) (68)
- De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. (2015) (68)
- Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. (2016) (67)
- Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity (2016) (66)
- Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations (2011) (66)
- Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage (2013) (66)
- Diagnostic exome sequencing in early‐onset Parkinson's disease confirms VPS13C as a rare cause of autosomal‐recessive Parkinson's disease (2018) (65)
- NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood (2016) (65)
- Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment (2007) (65)
- Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. (2016) (65)
- Molecular Integration of Incretin and Glucocorticoid Action Reverses Immunometabolic Dysfunction and Obesity. (2017) (64)
- Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction (2015) (64)
- A High Resolution Genome-Wide Scan for Significant Selective Sweeps: An Application to Pooled Sequence Data in Laying Chickens (2012) (63)
- Comprehensive analysis of the mutation spectrum in 301 German ALS families (2018) (63)
- Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. (2010) (62)
- Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes (2015) (61)
- Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency (2014) (61)
- A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures (2009) (61)
- Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss (2006) (61)
- Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues (1999) (60)
- Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. (2007) (60)
- HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency. (2014) (59)
- Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. (2016) (59)
- BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells (2018) (58)
- A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy (2008) (58)
- RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. (2015) (58)
- Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy (2021) (58)
- Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. (2012) (58)
- Loss of Renal Phosphate Wasting in a Child with Autosomal Dominant Hypophosphatemic Rickets Caused by a FGF23 Mutation (2002) (57)
- Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene. (1998) (57)
- Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families (2014) (56)
- Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation. (2016) (56)
- New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice (2004) (56)
- Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing (2011) (55)
- Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes (2017) (54)
- Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. (2013) (53)
- Estrone and estradiol concentrations in human ovaries, testes, and adrenals during the first two years of life. (1987) (53)
- Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. (2014) (53)
- The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk. (2018) (52)
- Prediction of Adipose Browning Capacity by Systematic Integration of Transcriptional Profiles. (2018) (51)
- Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. (2013) (51)
- Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies (2017) (50)
- Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? (2018) (50)
- Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. (2016) (50)
- Driver mutations in USP8 wild-type Cushing’s disease (2019) (49)
- A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. (1998) (49)
- Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease (2019) (49)
- Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability (2017) (48)
- Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype (2017) (48)
- Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. (2017) (48)
- Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. (2018) (48)
- MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy (2015) (47)
- Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy (2016) (47)
- Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges (2014) (47)
- Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas. (2016) (45)
- Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas. (2015) (44)
- Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. (2017) (44)
- A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
- Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. (2016) (43)
- Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping (2011) (43)
- Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment (2017) (43)
- Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism (2016) (42)
- DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family (2014) (42)
- A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. (2014) (40)
- De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. (2017) (40)
- Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction (2016) (40)
- Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients (2020) (39)
- Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 (2015) (39)
- Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 (2016) (38)
- HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome (2015) (38)
- Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation (2015) (38)
- De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. (2017) (38)
- Clinical implementation of RNA sequencing for Mendelian disease diagnostics (2021) (37)
- Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype (2013) (37)
- Loss-of-function variants in HIVEP2 are a cause of intellectual disability (2015) (36)
- Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. (2018) (36)
- Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer (2008) (36)
- Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. (2014) (36)
- Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. (2007) (35)
- Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies (2019) (35)
- De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. (2018) (35)
- Cohen syndrome diagnosis using whole genome arrays (2010) (35)
- MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities (2015) (35)
- KMT2B rare missense variants in generalized dystonia (2017) (34)
- Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies (2017) (34)
- Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb (2017) (34)
- HSJ1-related hereditary neuropathies (2014) (34)
- Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization (2009) (34)
- Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. (2018) (33)
- PRKACA Somatic Mutations Are Rare Findings in Aldosterone-Producing Adenomas. (2016) (33)
- Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition (2017) (33)
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. (2019) (32)
- De novo variants in neurodevelopmental disorders—experiences from a tertiary care center (2021) (32)
- Pollen of common ragweed (Ambrosia artemisiifolia L.): Illumina-based de novo sequencing and differential transcript expression upon elevated NO2/O3. (2017) (31)
- CRIM1 haploinsufficiency causes defects in eye development in human and mouse. (2015) (31)
- MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome. (2020) (31)
- A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis (2009) (31)
- Overexpression of UHRF1 promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastoma (2018) (31)
- Analysis of an interstitial deletion in a patient with Kallmann syndrome, X‐linked ichthyosis and mental retardation (1998) (30)
- Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing (2017) (30)
- Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases (2020) (30)
- X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients. (2000) (29)
- Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes (2020) (29)
- Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) (2018) (29)
- New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis (2012) (28)
- Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum (2017) (28)
- Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes (2006) (28)
- Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells (2015) (28)
- De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth (2016) (27)
- Mutations in BICD 2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia (2013) (27)
- De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder (2018) (27)
- Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID (2017) (26)
- Neonatal encephalocardiomyopathy caused by mutations in VARS2 (2017) (26)
- Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families (2017) (26)
- Functional identity of hypothalamic melanocortin neurons depends on Tbx3 (2019) (26)
- Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. (2020) (25)
- Severe respiratory complex III defect prevents liver adaptation to prolonged fasting. (2016) (25)
- Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
- De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies (2018) (25)
- Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia (2016) (24)
- Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant. (2016) (24)
- Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy (2019) (24)
- A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease (2007) (24)
- Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability (2018) (24)
- Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease (2017) (24)
- KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum (2019) (23)
- Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency (2018) (23)
- Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I (2018) (23)
- In situ metabolomics of aldosterone-producing adenomas. (2019) (23)
- Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing (2016) (22)
- Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing (2016) (22)
- Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults (2018) (22)
- A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33. (2004) (21)
- An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease. (2013) (21)
- Mechanisms of action of atrial natriuretic factor: clinical consequences. (1986) (21)
- SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy (2018) (21)
- Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene (2017) (21)
- Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3 (2017) (20)
- ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes (2015) (20)
- Exome Sequencing in Children. (2019) (20)
- Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches (2014) (20)
- A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome (2016) (20)
- Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. (2020) (20)
- De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations (2017) (20)
- Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease (2014) (20)
- Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia (2010) (20)
- Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken (2015) (20)
- First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features. (2017) (19)
- Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling (2018) (19)
- A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression. (2014) (19)
- Rare genetic variants in patients with cervical artery dissection (2019) (19)
- Parallel Selection Revealed by Population Sequencing in Chicken (2015) (19)
- 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. (2011) (19)
- First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing (2017) (19)
- Homozygous XYLT2 variants as a cause of spondyloocular syndrome (2018) (18)
- Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder (2021) (18)
- Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse (1998) (18)
- Two novel mutations in conserved codons indicate that CHCHD 10 is a gene associated with motor neuron disease (2014) (18)
- Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN) (2017) (18)
- Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. (2011) (17)
- EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum (2016) (17)
- Increased plasma cyclic guanosine monophosphate concentrations in children with high levels of circulating atrial natriuretic peptide. (1987) (16)
- Erratum: The draft genome of the grass carp (Ctenopharyngodon idellus) provides insights into its evolution and vegetarian adaptation (2015) (16)
- MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy (2018) (16)
- Platelet receptors for atrial natriuretic peptide in man. (1987) (16)
- Human RAD50 deficiency: Confirmation of a distinctive phenotype (2020) (15)
- A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation (2017) (15)
- A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. (2019) (15)
- Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach (2019) (15)
- Influence of diurnal rhythm, posture and right atrial size on plasma atrial natriuretic peptide levels. (1988) (15)
- Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery (2018) (15)
- Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes (2020) (14)
- Blue Diaper Syndrome and PCSK1 Mutations (2018) (14)
- A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy. (2019) (14)
- Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders (2021) (14)
- New loci for restless legs syndrome map to chromosome 4q and 17p (2006) (13)
- Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (2020) (13)
- Congenital myasthenic syndrome caused by novel COL13A1 mutations (2019) (13)
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia (2019) (12)
- Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies (2017) (12)
- Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes (2017) (12)
- Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy (2017) (12)
- Maintenance of epithelial traits and resistance to mesenchymal reprogramming promote proliferation in metastatic breast cancer (2020) (12)
- Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. (2021) (12)
- Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities (2017) (12)
- Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment (2019) (11)
- PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum (2018) (11)
- P4-149 Identification of genetic loci associated with familial frontotemporal dementia (2004) (11)
- The genetic landscape of axonal neuropathies in the middle-aged and elderly (2020) (11)
- Bi-allelic truncating mutations in VWA1 cause neuromyopathy. (2021) (11)
- Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene (2012) (11)
- A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder (2018) (11)
- Nine newly identified individuals refine the phenotype associated with MYT1L mutations (2020) (11)
- Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration (2017) (11)
- Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype (2008) (11)
- Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1 (2015) (11)
- Mutations in APOPT 1 , Encoding a Mitochondrial Protein , Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency (2017) (11)
- Genomic factors related to tissue tropism in Chlamydia pneumoniae infection (2015) (10)
- Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1 (2017) (10)
- Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. (2021) (10)
- A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke (2020) (10)
- Identification of Recurring Tumor-Specific Somatic Mutations In Acute Myeloid Leukemia by Transcriptome Sequencing. (2010) (9)
- Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. (2020) (9)
- Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases (2022) (9)
- Identification and characterization of distinct brown adipocyte subtypes in C57BL/6J mice (2020) (9)
- Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavage (2021) (9)
- Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures (2014) (9)
- Defective immuno- and thymoproteasome assembly causes severe immunodeficiency (2018) (9)
- Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder (2020) (8)
- The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations (2016) (8)
- Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1‐mutation due to uniparental disomy (2016) (8)
- Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa (2016) (7)
- Novel mosaic variants in two patients with Cornelia de Lange syndrome. (2017) (7)
- Acute Stanford type B aortic dissection—who benefits from genetic testing? (2020) (7)
- Plasma atrial natriuretic peptide levels in children with cardiac diseases: correlation with cGMP levels and haemodynamic parameters. (1987) (7)
- Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review (2020) (6)
- Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing. (2021) (6)
- Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. (2020) (6)
- Combination of high-performance liquid chromatography and radioimmunoassay for the measurement of urodilatin and alpha-hANP in the urine of healthy males. (1991) (6)
- Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries (2018) (6)
- Allelic imbalance at intragenic markers of Tbx18 is a hallmark of murine osteosarcoma. (2003) (6)
- Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy (2020) (6)
- Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS (2020) (5)
- Atrial Natriuretic Peptide in Healthy Children from Birth to Adolescence and in Children with Cardiac Diseases (1986) (5)
- Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3 (2020) (5)
- De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum (2014) (5)
- TPP2 mutation associated with sterile brain inflammation mimicking MS (2018) (5)
- Identification of a Functional PDE5A Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction Family. (2021) (4)
- SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities (2017) (4)
- Viable EdnraY129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation (2016) (4)
- Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing (2018) (4)
- Development of A Cell-Based Assay to Identify Small Molecule Inhibitors of FGF23 Signaling. (2015) (4)
- A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy (2020) (4)
- Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
- Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study (2021) (4)
- Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness (2019) (4)
- Explorer Development of a high density 600 K SNP genotyping array for chicken (2017) (4)
- Identification of a second major locus for neurodegeneration with brain iron accumulation (2011) (4)
- Compound heterozygous SPATA 5 variants in four families and functional studies of SPATA 5 de fi ciency (2019) (4)
- Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations (2019) (3)
- MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities (2015) (3)
- TBX3 and TBX5 duplication: a family with an atypical overlapping Holt-Oram/Ulnar-Mammary syndrome phenotype. (2021) (3)
- Erratum to: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis (2014) (3)
- Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia. (2020) (3)
- The Molecular Basis of Hypophosphatemic Rickets (1999) (3)
- Whole genome sequencing of a single Bos taurus animal for SNP discovery (2009) (3)
- Abstract 3086: The genetic landscape of the childhood liver cancer hepatoblastoma (2014) (3)
- MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy (2015) (2)
- Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes (2021) (2)
- Constitutive activation of PRKACA in adrenal Cushing's syndrome (2014) (2)
- Development of High Density (600K) Chicken Genotyping Array (2012) (2)
- Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome (2016) (2)
- Clonal Hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders. (2022) (2)
- Development of high density chicken genotyping array: 1. Detection of SNPs and criteria for SNP selection (2011) (2)
- Diagnostic yield of whole-exome sequencing in neurological diaseases (2017) (2)
- Absence of BiP Co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration (The American Journal of Human Genetics (2014) 96 (689-697)) (2015) (1)
- Identification of Novel Retinal Degeneration Loci in Consanguineous Israeli and Palestinian Families With Retinal Disease (2008) (1)
- Development of a high density 600K SNP genotyping array for chicken (2013) (1)
- GRIN2B Encephalopathy: Novel Findings (2017) (1)
- Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage (2013) (1)
- Abstract 12059: Incidental Findings in Cardiomyopathy and Channelopathy Genes Among 5891 Individuals Undergoing Whole-exome Sequencing. What Should be Reported? (2015) (1)
- Development of high density chicken genotyping array: 1. Validation of SNPs for final array design (2011) (1)
- O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder (2013) (1)
- Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception (2015) (1)
- The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. (2023) (1)
- Absence of the Autophagy Adaptor SQSTM 1 / p 62 Causes Childhood-Onset Neurodegeneration with Ataxia , Dystonia , and Gaze Palsy Haack (1)
- MEASUREMENT OF ATRIAL NATRIURETIC PEPTIDE (ANP), cGMP, ALDOSTERONE AND VASOPRESSIN LEVELS IN INFANTS (1988) (1)
- An autosomal recessive hypophosphatemic disorder caused by homozygous mutations in dentin matrix protein 1 (DMP1). (2006) (1)
- PRKACA somatic mutations are rare in aldosterone-producing adenomas. (2016) (1)
- A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array (2014) (1)
- BINDING SITES FOR ATRIAL NATRIURETIC PEPTIDE (ANP) ON PLATELETS IN PATIENTS WITH HIGH PLASMA ANP LEVELS (1988) (1)
- Role of 5-hydroxymethylcytosine during postnatal retinal development (2013) (1)
- Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes (2015) (1)
- A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India. (2021) (1)
- Hyperaminoaciduria and resolving phosphaturia in a family with autosomal dominant hypophosphataemic rickets (ADHR) due to a mutation in the FGF23 gene (2009) (1)
- Isolation and fine mapping of (CA)n repeats from the Xp11.23 and Xp11.4 region. (1994) (1)
- TPP 2 mutation associated with sterile brain in fl ammation mimicking MS (1)
- Deciphering the genetic origin of childhood liver cancer (2013) (1)
- A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism (2018) (1)
- Molecular Genetic Analysis of Non-syndromic Retinitis Pigmentosa in Indonesia (2011) (1)
- Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry (2022) (1)
- PNPLA 6 seed analysis in more than 500 exomes of index patients with ataxia , hereditary spastic paraplegia and Charcot – Marie – Tooth disease (2014) (0)
- Mutations in ATP6V1E1 or ATP6V1A cause AR cutis laxia (2016) (0)
- An adult female patient with ocular dermoid, calcifying meningeomas, hyperostosis of the skull, facial, alveolar and phalangeal exostoses and skin changes - a long way to the right diagnosis (2016) (0)
- VKORC1 (vitamin K epoxide feed back polypeptide), a therapeutic target of coumarin and its derivatives (2004) (0)
- VKORC1 (vitamin K epoxide tilbageføringspolypeptid), a therapeutic target of coumarin and its derivatives (2004) (0)
- Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing (2017) (0)
- Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling (2018) (0)
- NORMAL PUBERTY IN X-LINKED CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA (CCAH) (1993) (0)
- From detection to array design: Exploring the characteristics of the chicken single nucleotide polymorphisms at different phases of their selection process (2011) (0)
- CHARACTERIZATION OF SPEZIFIC RECEPTORS FOR ATRIAL NATRIURETIC PEPTIDE ON HUMAN PLATELETS (1986) (0)
- FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy (2013) (0)
- Accuracy of imputation from SNP array data to sequence level in chicken (2015) (0)
- MULTIPLE MITOCHONDRIAL DYSFUNCTION SYNDROME CAUSED BY A MUTATION IN BOLA3 (2012) (0)
- Genome–Wide SNP Microarrays as a Diagnostic Tool in Consanguineous LCA Patients (2006) (0)
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (0)
- VKORC1 (vitamin K epoxide recycling polypeptide), a therapeutic target for coumarin and derivatives thereof (2004) (0)
- BRAIN LETTER TO THE EDITOR Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease (2014) (0)
- Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. (2022) (0)
- PLASMA ATRIAL NATRIURETIC PEPTIDE (ANP) AND CYCLIC GUANOSINE MONOPHOSPHATE (cGMP) LEVELS AND ANP-BINDING SITES ON PLATELETS IN THE PERINATAL PERIOD (1989) (0)
- Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) (2018) (0)
- Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition (2016) (0)
- Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency (2018) (0)
- MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL (2018) (0)
- De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies (2018) (0)
- Author response for "Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder" (2020) (0)
- Characteristics of aldosterone-producing adenomas: a tissue microarray study (2017) (0)
- Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. (2021) (0)
- Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing (2013) (0)
- Overexpression of UHRF1 promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastoma (2018) (0)
- Early Glibenclamide Treatment in a Clinical Newborn With KCNJ11 Gene Mutation (2007) (0)
- Viable EdnraY129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation (2016) (0)
- Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment (2019) (0)
- Genetic Analysis of Achromatopsia in Jewish and Muslim Patients Revealed One Common Allele and 2 Novel Mutations in the CNGA3 Gene (2008) (0)
- An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics (2019) (0)
- EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum (2016) (0)
- Parallel Selection Revealed by Population Sequencing in (2015) (0)
- An Ancient Founder Splice-Site RPE65 Mutation in North-African Jewish Patients With Leber Congenital Amaurosis (2009) (0)
- URINARY MEASUREMENTS OF ATRIAL NATRIURETIC PEPTIDE (ANP), CYCLIC GUANOSINE MONOPHOSPHATE (cGMP), ARGININEVASOPRESSIN (AVP) AND ALDOSTERONE (ALDO) IN NEWBORN INFANTS (1989) (0)
- Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies (2019) (0)
- Functional Studies of a New Mutation in the LH/CG Receptor Gene Identified in 2 Sisters with 46,XY DSD (2016) (0)
- 46,XY DSD in 2 sisters due to compound heterozygous mutations in the LH/CG receptor gene involving cryptic Exon 6A identified by exome sequencing (2015) (0)
- VKORC1 polypeptide recycling vitamin k-epoxide, a therapeutic target of coumarin and its derivatives. (2004) (0)
- Recurrent somatic mutations in Ying Yang 1 (YY1) are found in a subgroup of sporadic insulinomas (2015) (0)
- Band-like calcification with simplified gyration and polymicrogyria: further delineation of phenotype and review of literature (2013) (0)
- The Potential of Whole-Exome Sequencing (WES) in Neuropediatric Patients: Single-Center Experience at the University Hospital Hamburg Eppendorf (2017) (0)
- Update in the genetic landscape of Cushing's Disease: TP53 and a new deubiquitinase in spotlight (2018) (0)
- Clinical implementation of RNA sequencing for Mendelian disease diagnostics (2022) (0)
- The Identification of Disease Genes in a Candidate Region (2000) (0)
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia (2019) (0)
- Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype (2017) (0)
- RARE CODING VARIANTS IN THE MME GENE, ENCODING THE METALLOPROTEASE NEPRILYSIN, ARE LINKED TO LATE-ONSET AXONAL NEUROPATHIES (2016) (0)
- Sideroflexin-4 Defects Cause A New Infantile Mitochondrial Disorder Affecting Hematopoietic And Central Nervous Systems. (P7.328) (2014) (0)
- Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy (2019) (0)
- 3P-088 Role of Polypeptide GalNAc-transferase T3 in FGF23 secretion(Membrane proteins,The 47th Annual Meeting of the Biophysical Society of Japan) (2009) (0)
- Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia (2016) (0)
- The negative end of the ZH P distribution from the creeping windows (CW) versus the sliding windows (SW) strategy is presented along GGA5. (2012) (0)
- Atrial natriuretic peptide in term newborn infants (1989) (0)
- Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1 (2015) (0)
- Genomic factors related to tissue tropism in Chlamydia pneumoniae infection (2015) (0)
- Contents Vol. 55, 2001 (2002) (0)
- Author response for "Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review" (2020) (0)
- DYT16 mimics metabolic disease with fever associated beginning of dystonia and MRI abnormalities (2017) (0)
- Mutation analysis of genes regulating the hypothalamo-pituitary adrenal (HPA) axis in patients with depressive syndrome (2002) (0)
- Evidence for genetic heterogeneity in Restless Legs Syndrome (2004) (0)
- Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (2020) (0)
- Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies (2017) (0)
- Abstract LB-182: Constitutive activation of PRKACA in adrenal Cushing's syndrome (2014) (0)
- Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes (2017) (0)
- P-018 Exome-sequencing identifies acquired mutations in ASXL1, PHF6 and DOCK5 as secondary genetic events in a case of germline GATA2-mutation (2013) (0)
- Immunoexpressions of CYP11B2 and HSD3B2 in genetically characterised aldosterone producing adenomas (2015) (0)
- Table. Linkage and Mutation Analysis Results of Known Retinal Dystrophy Genes in Pakistani Families (2017) (0)
- X-linked congenital adrenal hypoplasia (2000) (0)
- SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy (2018) (0)
- New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis (2012) (0)
- Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. (2022) (0)
- Exome sequencing in 30 neurodegeneration with brain iron accumulation patients (2013) (0)
- ["MEDDOS", a computer program for constructing treatment plans in pediatric intensive care units]. (1991) (0)
- Defective immuno- and thymoproteasome assembly causes severe immunodeficiency (2018) (0)
- Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken (2015) (0)
- Identification and characterization of distinct murine brown adipocyte lineages (2020) (0)
- Author response for "De novo variants in neurodevelopmental disorders—experiences from a tertiary care center" (2021) (0)
- Functional identity of hypothalamic melanocortin neurons depends on Tbx3 (2019) (0)
- Mutations in the gene tripeptidyl peptidase II (TPP2) and multiple sclerosis (2016) (0)
- Neonatal encephalocardiomyopathy caused by mutations in VARS2 (2016) (0)
- Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability (2017) (0)
- A new locus for restless legs syndrome maps to chromosome 4q (2005) (0)
- Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency (2018) (0)
- Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability (2018) (0)
- RNAseq Analysis of the Bovine Endometrium Transcriptome During the Pre-Implantation Phase. (2010) (0)
- P 308. Autosomal Recessive Mutations in the NALCN Gene: A Rare Cause of a Severe Developmental Disorder with Facial Dysmorphia, Epilepsy and Cheyne–Stokes/Biot’s Respiration with Central Apneas (2018) (0)
- Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseases (2013) (0)
- Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes (2017) (0)
- Integrated genomic and phenomic analysis reveals key molecular pathways of aldosterone producing adenoma (2017) (0)
- Subject Index Vol. 55, 2001 (2002) (0)
- Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730] (2020) (0)
- PLASMA ATRIAL-NATRIURETIC PEPTIDE (ANP) AND cGMP LEVELS IN CHILDREN, cGMP AS MARKER FOR THE EFFECT OF ANP ON TARGET TISSUES (1986) (0)
- Erratum to: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis (2014) (0)
- SEX DIFFERENCES IN GONADAL ESTRADIOL (E2) AND ESTRONE (E1) CONCENTRATIONS IN INFANCY (1986) (0)
- Detection and selection of SNPs from chicken whole genome sequencing for the design of high throughput genotyping arrays (2011) (0)
- Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 Authors (2016) (0)
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What Schools Are Affiliated With Tim-matthias Strom?
Tim-matthias Strom is affiliated with the following schools:
