James R. Lupski
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American academic
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Why Is James R. Lupski Influential?
(Suggest an Edit or Addition)According to Wikipedia, James R. Lupski is the Cullen Endowed Chair in Molecular Genetics and Professor in the Department of Pediatrics at Baylor College of Medicine. Lupski obtained his BA degree from New York University in 1979 and his PhD and MD degrees in 1984 and 1985, respectively, from the same institution. He later moved for his Residency in Pediatrics to Baylor College of Medicine, where he has stayed since. Lupski is affected by a genetic disease called Charcot-Marie-Tooth and has studied the condition as part of his research. He has contributed to the discovery and definition of genomic disorders and several genetic diseases.
James R. Lupski'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
- Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes. (1991) (3296)
- The complete genome of an individual by massively parallel DNA sequencing (2008) (1874)
- Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction (1994) (1736)
- Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013) (1706)
- A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy (1997) (1331)
- DNA duplication associated with Charcot-Marie-Tooth disease type 1A (1991) (1312)
- Molecular findings among patients referred for clinical whole-exome sequencing. (2014) (1163)
- Mechanisms of change in gene copy number (2009) (1148)
- Structural variation in the human genome and its role in disease. (2010) (1118)
- Copy number variation in human health, disease, and evolution. (2009) (1055)
- Genome architecture, rearrangements and genomic disorders. (2002) (923)
- Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. (1998) (889)
- A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders (2007) (856)
- Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. (2010) (777)
- A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation (2009) (747)
- Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder (2001) (650)
- Mechanisms for human genomic rearrangements (2008) (623)
- Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (2005) (606)
- Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes (2005) (572)
- Mutation of the Stargardt Disease Gene (ABCR) in Age-Related Macular Degeneration (1997) (568)
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities (2008) (567)
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. (2015) (552)
- The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A (1992) (506)
- Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. (2004) (505)
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation (2017) (499)
- Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies (1998) (492)
- Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy (2002) (479)
- Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size (2009) (478)
- Structural variation in the human genome. (2007) (476)
- Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J (2007) (464)
- Implementing genomic medicine in the clinic: the future is here (2013) (463)
- Mechanisms underlying structural variant formation in genomic disorders (2016) (450)
- Genomic rearrangements and sporadic disease (2007) (446)
- The use of transposon Tn5 mutagenesis in the rapid generation of correlated physical and genetic maps of DNA segments cloned into multicopy plasmids--a review. (1984) (421)
- Human genome sequencing in health and disease. (2012) (420)
- Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit (1992) (408)
- Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1 (2005) (408)
- The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans (2009) (408)
- Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations (2004) (398)
- Non-coding genetic variants in human disease. (2015) (397)
- Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome (1997) (392)
- Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements (2011) (388)
- Short, interspersed repetitive DNA sequences in prokaryotic genomes (1992) (380)
- Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse (2004) (371)
- Microbial DNA Typing by Automated Repetitive-Sequence-Based PCR (2005) (371)
- Molecular mechanisms for constitutional chromosomal rearrangements in humans. (2000) (371)
- Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination (1996) (367)
- MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. (2006) (366)
- Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. (2007) (358)
- Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. (1997) (354)
- Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease (2006) (352)
- Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). (1991) (347)
- Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion (2000) (346)
- Clan Genomics and the Complex Architecture of Human Disease (2011) (344)
- Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. (1993) (331)
- Molecular mechanisms for genomic disorders. (2003) (320)
- Mechanisms for recurrent and complex human genomic rearrangements. (2012) (320)
- Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) (1996) (318)
- Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. (1994) (317)
- Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome (2000) (316)
- Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review) (2009) (311)
- Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. (1998) (309)
- Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. (1999) (307)
- Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management (2017) (303)
- A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases (2014) (297)
- Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia (2002) (290)
- Whole-Genome Sequencing for Optimized Patient Management (2011) (290)
- Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. (2003) (284)
- Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome (2009) (279)
- Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders (2006) (276)
- Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A (1992) (270)
- Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation (2002) (265)
- Differential subsequence conservation of interspersed repetitive Streptococcus pneumoniae BOX elements in diverse bacteria. (1995) (264)
- Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males (2006) (259)
- Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. (2014) (259)
- Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene (1993) (258)
- Development and validation of a CGH microarray for clinical cytogenetic diagnosis (2005) (256)
- Complex human chromosomal and genomic rearrangements. (2009) (248)
- Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. (2003) (244)
- Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review) (2009) (242)
- Detection of clinically relevant exonic copy‐number changes by array CGH (2010) (242)
- Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. (2000) (241)
- COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis (2015) (235)
- Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. (2003) (234)
- Somatic mosaicism: implications for disease and transmission genetics. (2015) (230)
- Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease (2015) (229)
- Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. (2014) (221)
- Increased LIS1 expression affects human and mouse brain development (2009) (219)
- A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element (1996) (217)
- Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases (2007) (216)
- Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders (2009) (216)
- TBX6 null variants and a common hypomorphic allele in congenital scoliosis. (2015) (214)
- Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis (2016) (212)
- Periaxin mutations cause recessive Dejerine-Sottas neuropathy. (2001) (209)
- Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. (1993) (207)
- Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. (2015) (206)
- Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome (2000) (204)
- Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region (2007) (203)
- Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases (2009) (200)
- Completing the map of human genetic variation (2007) (199)
- Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders (2017) (198)
- Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. (2016) (192)
- 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. (2008) (191)
- Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet–Biedl syndrome (2008) (191)
- Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. (1994) (190)
- Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes (2008) (189)
- Genome architecture catalyzes nonrecurrent chromosomal rearrangements. (2003) (189)
- Molecular genotyping of methicillin-resistant Staphylococcus aureus via fluorophore-enhanced repetitive-sequence PCR (1995) (188)
- Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. (2010) (188)
- Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous (1994) (186)
- Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. (2009) (184)
- Lessons learned from additional research analyses of unsolved clinical exome cases (2017) (179)
- Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. (1998) (178)
- Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function (2014) (178)
- Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients (2015) (176)
- Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation (1999) (173)
- Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics (2007) (171)
- Exploring the molecular basis of Bardet-Biedl syndrome. (2001) (171)
- Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome (2011) (167)
- Whole-cell repetitive element sequence-based polymerase chain reaction allows rapid assessment of clonal relationships of bacterial isolates (1993) (164)
- Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis (2008) (163)
- Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia (2005) (163)
- Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A (1993) (162)
- Molecular-evolutionary mechanisms for genomic disorders. (2002) (161)
- Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. (1994) (160)
- Genomic disorders ten years on (2009) (160)
- Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. (2002) (159)
- Mus81 and converging forks limit the mutagenicity of replication fork breakage (2015) (152)
- Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype (1999) (149)
- ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (2013) (148)
- Deficiency in 3′-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1) (2005) (146)
- Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. (1992) (146)
- Reanalysis of Clinical Exome Sequencing Data. (2019) (145)
- Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. (1999) (145)
- Genome Mosaicism—One Human, Multiple Genomes (2013) (145)
- Penicillin-resistant Streptococcus pneumoniae strains recovered in Houston: identification and molecular characterization of multiple clones. (1993) (145)
- Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. (1997) (144)
- Assessing structural variation in a personal genome—towards a human reference diploid genome (2015) (143)
- The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy (2014) (143)
- Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome (2001) (141)
- The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. (2001) (140)
- Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. (1996) (139)
- Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect (2005) (138)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage (2006) (138)
- Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4) (2001) (137)
- Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy (2013) (136)
- Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. (2018) (136)
- Insights into genetics, human biology and disease gleaned from family based genomic studies (2019) (135)
- Emergence of a Predominant Clone of Community-Acquired Staphylococcus aureus Among Children in Houston, Texas (2005) (135)
- De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome (2013) (134)
- Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. (2016) (134)
- Proteolipid protein gene duplications causing Pelizaeus‐Merzbacher disease: Molecular mechanism and phenotypic manifestations (1999) (133)
- PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. (2014) (132)
- Molecular detection and genotyping of pathogens: more accurate and rapid answers. (2002) (132)
- Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. (2015) (130)
- The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. (2004) (130)
- Cell cycle arrest in Era GTPase mutants: a potential growth rate‐regulated checkpoint in Escherichia coli (1998) (130)
- Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases (2008) (130)
- X-linked acrogigantism syndrome: clinical profile and therapeutic responses. (2015) (129)
- Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. (2007) (129)
- Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. (2003) (127)
- The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial (1999) (126)
- Replicative mechanisms for CNV formation are error prone (2013) (125)
- Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux (2007) (125)
- Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models (2010) (125)
- NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits (2013) (122)
- Germ-line and somatic DICER1 mutations in pineoblastoma (2014) (122)
- Structural variation mutagenesis of the human genome: Impact on disease and evolution (2015) (122)
- Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg–Hirschsprung disease: Phenotypes linked by SOX10 mutation (2002) (121)
- Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. (2010) (121)
- Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. (2009) (120)
- Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. (2001) (120)
- Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature (2012) (120)
- Nerve conduction studies in Charcot‐Marie‐Tooth polyneuropathy associated with a segmental duplication of chromosome 17 (1993) (118)
- Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. (1998) (118)
- Periaxin mutations cause a broad spectrum of demyelinating neuropathies (2002) (118)
- Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment (2009) (118)
- Bacterial genomes : physical structure and analysis (1998) (118)
- Analysis of the ABCA4 genomic locus in Stargardt disease. (2014) (118)
- Serial segmental duplications during primate evolution result in complex human genome architecture. (2004) (117)
- Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing (2013) (117)
- Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (2002) (117)
- Analysis of relationships among isolates of Citrobacter diversus by using DNA fingerprints generated by repetitive sequence-based primers in the polymerase chain reaction (1992) (117)
- Novel genetic causes for cerebral visual impairment (2015) (116)
- Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms (2004) (116)
- Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. (2018) (115)
- Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance (2003) (115)
- BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. (2002) (115)
- Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. (2005) (115)
- Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. (2005) (113)
- Detection of Clinically Relevant Copy Number Variants with Whole‐Exome Sequencing (2013) (112)
- Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome (2007) (112)
- DUF1220-domain copy number implicated in human brain-size pathology and evolution. (2012) (111)
- Uniform slowing of conduction velocities in Charcot‐Marie‐Tooth polyneuropathy type 1 (1993) (111)
- A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo (2013) (111)
- The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions (2012) (110)
- Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome (2004) (109)
- A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element (1998) (109)
- Hereditary Motor and Sensory Neuropathies: An Overview of Clinical, Genetic, Electrophysiologic, and Pathologic Features (2005) (109)
- Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (2014) (108)
- Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity (2006) (108)
- Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? (2001) (108)
- ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. (2005) (107)
- Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)] (2003) (106)
- Clinical variability in two pairs of identical twins with the Charcot‐Marie‐Tooth disease type 1A duplication (1995) (105)
- COP9 Signalosome Subunit 3 Is Essential for Maintenance of Cell Proliferation in the Mouse Embryonic Epiblast (2003) (105)
- A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function (2019) (104)
- Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. (2005) (104)
- NR2F1 mutations cause optic atrophy with intellectual disability. (2014) (104)
- DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. (2015) (104)
- Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. (2011) (103)
- Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. (2018) (103)
- Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort (2016) (102)
- A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. (2006) (102)
- Evaluation of distal symmetric polyneuropathy: The role of autonomic testing, nerve biopsy, and skin biopsy (an evidence‐based review) (2009) (100)
- Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. (2005) (100)
- Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. (2014) (99)
- Repetitive Sequence-based PCR (rep-PCR) DNA Fingerprinting of Bacterial Genomes (1998) (99)
- Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. (2016) (99)
- A Recurrent loss‐of‐function alanyl‐tRNA synthetase (AARS ) mutation in patients with charcot‐marie‐tooth disease type 2N (CMT2N) (2012) (98)
- Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. (2002) (98)
- The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. (2001) (98)
- Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. (1993) (96)
- Phenotypic Expansion Illuminates Multilocus Pathogenic Variation (2018) (95)
- The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. (1997) (95)
- Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. (2002) (94)
- Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. (2007) (94)
- Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. (2002) (92)
- Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. (2010) (92)
- Genomic disorders : the genomic basis of disease (2006) (92)
- Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies (2003) (91)
- Unusual electrophysiological findings in X‐linked dominant Charcot‐Marie‐Tooth disease (2000) (90)
- SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation (2005) (90)
- Altered neuronal network and rescue in a human MECP2 duplication model (2015) (90)
- Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular Noncompaction (2017) (89)
- Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. (2011) (89)
- Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect (2006) (89)
- Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. (2006) (88)
- Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. (1993) (88)
- Insertional translocation detected using FISH confirmation of array‐comparative genomic hybridization (aCGH) results (2010) (87)
- Molecular epidemiology of infections due to Enterobacter aerogenes: identification of hospital outbreak-associated strains by molecular techniques. (1995) (87)
- Fliih, a Gelsolin-Related Cytoskeletal Regulator Essential for Early Mammalian Embryonic Development (2002) (85)
- WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. (2018) (84)
- Is the carboxyl‐terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy (1991) (84)
- Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (2014) (83)
- Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. (2016) (83)
- Hotspots of homologous recombination in the human genome: not all homologous sequences are equal (2004) (82)
- Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. (2007) (82)
- Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. (1991) (82)
- Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms. (1999) (82)
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- Molecular Epidemiological Analysis of the Changing Nature of a Meningococcal Outbreak following a Vaccination Campaign (2002) (32)
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- Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy (2015) (19)
- Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. (2010) (19)
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- Cytogenetically visible inversions are formed by multiple molecular mechanisms (2020) (9)
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- Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma (2012) (9)
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- Cover (2020) (0)
- Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies (2018) (0)
- Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251] (1990) (0)
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- Novel Biallelic Variants in KIF21A Cause a Novel Phenotype of Fetal Akinesia with Neurodevelopmental Defects (2021) (0)
- Contributors (2012) (0)
- Mouse maps, models and mutants (1994) (0)
- Literature abstracts (2004) (0)
- 2007 ASHG AWARDS AND ADDRESSES Allan Award Introduction: Arthur L. Beaudet (2008) (0)
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- List of contributors. (2019) (0)
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- Genomic Characterization of a Pediatric Cohort with Non-Malignant Lymphoproliferative Disorders (2019) (0)
- Molecular mechanisms underlying human SOX10 mutations causing distinct neurocristopathies (2006) (0)
- A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy (2018) (0)
- FOXI3 pathogenic variants cause one form of craniofacial microsomia (2023) (0)
- Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. (2021) (0)
- Determination of traces on bacterial strains using amplifying repetitive DNA sequences. (1992) (0)
- An evolutionary comparative analysis of abcr proteins in vertebrates’ species. (2004) (0)
- Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations (2018) (0)
- TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model (2019) (0)
- Variants in a Noninstitutionalized Sample Callous-Unemotional Traits and Differently Motivated Aggression: An Examination of (2015) (0)
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- Novel parent-of-origin-specific differentially methylated loci on chromosome 16 (2019) (0)
- From genes to genomes in the clinic (2015) (0)
- The CMT1A duplication (2020) (0)
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- founder effect mutations, inheritance, phenotypic variability, and Genetics of Charcot-Marie-Tooth disease type 4A: (2006) (0)
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- Biallelic variants in KIF14 cause intellectual disability with microcephaly (2018) (0)
- Front Cover, Volume 41, Issue 1 (2019) (0)
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- Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders (2017) (0)
- Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (2017) (0)
- Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. (2023) (0)
- Comprehensive genomic analysis of patients with disorders of cerebral cortical development (2018) (0)
- ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm (2018) (0)
- HIGH-THROUGHPUT MUTATION ANALYSIS OF THE HUMAN AMINOACYL-tRNA SYNTHETASE GENES: IN SEARCH OF ADDITIONAL LOCI RESPONSIBLE FOR INHERITED PERIPHERAL NEUROPATHIES (2009) (0)
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- INVITED EDITORIAL Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light (0)
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- Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants (2019) (0)
- 16: Evolution of novel genes and complex genome architecture by serial segmental duplication during primate speciation (2005) (0)
- CHAPTER 82 – INHERITED NEUROPATHIES (2007) (0)
- Oral Abstracts of the ISPD 20th International Conference on Prenatal Diagnosis and Therapy, Berlin, Germany, 10–13 July 2016 (2016) (0)
- Generation of the Sotos syndrome deletion in mice (2012) (0)
- X-linked acro-gigantism (X-LAG) : A new form of infant-onset pituitary gigantism (2015) (0)
- Back Cover, Volume 43, Issue 7 (2022) (0)
- Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish (2021) (0)
- PRACTICAL GENETICS In association with Charcot – Marie – Tooth disease (2009) (0)
- Assessing structural variation in a personal genome—towards a human reference diploid genome (2015) (0)
- Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa (DOI:10.1016/j.ajhg.2009.02.005) (2010) (0)
- A I .5-Mb Deletion in 17p I 1.2-p 1 2 Is Frequently Observed in Italian Families with Hereditary Neuropathy with Liability to Pressure Palsies (2007) (0)
- Characterization of Retinal Degeneration in a Bardet-Biedl Syndrome Mouse Model and Development of a Gene Therapy Strategy (2009) (0)
- Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies (2006) (0)
- Chimeric transcripts resulting from complex duplications in chromosome Xq28 (2015) (0)
- CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels (2020) (0)
- Erratum: Cell cycle arrest in Era GTpase mutants: A potential growth rate-regulated checkpoint in Escherichia coli (Molecular Microbiology 27:4 (739-750)) (1998) (0)
- Mutational analysis of the myelin protein zero (MPZ) gene associated with Charcot-Marie-Tooth neuropathy type 1B (1994) (0)
- Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain (2011) (0)
- Tu2021 High-Throughput Analyses of Liver Nucleic Acids Failed to Unravel a Common Etiology of Biliary Atresia (2015) (0)
- MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT (2022) (0)
- Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. (2022) (0)
- Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences (2022) (0)
- Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy (2013) (0)
- LCA3, A Novel Early Onset Retinal Disease Gene, Functions in Protein Transport Vesicles (2009) (0)
- Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT (2011) (0)
- Identification of novel candidate disease genes from de novo exonic copy number variants (2017) (0)
- Additional file 8: of Identification of novel candidate disease genes from de novo exonic copy number variants (2017) (0)
- Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations (2017) (0)
- ERRATUM: Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D (2014) (0)
- The Bardet Biedl Protein BBS4 is Required for Light-Dependent Protein Transport in Photoreceptors (2007) (0)
- Developmental genomics of congenital limb malformations: further indication of allelic series in association with gene dosage effects that contribute to the variability of phenotypes (2022) (0)
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- Sequences d'acides nucleiques pour transporteur a cassette de fixation a l'atp (1998) (0)
- alleles.two temperature-sensitive dnaG Escherichia coli essential GTPase era that Characterization of mutations affecting the (2012) (0)
- Whole Exome Sequencing Identifies Potential Defects in Multiple Immunodeficiency-Associated Genes in Individual Patients and Families with Primary Immunodeficiency Diseases (2017) (0)
- Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency (2021) (0)
- Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder (2022) (0)
- Diagnostic yield and clinical effects of exome sequencing analysis in patients with early-onset scoliosis (2019) (0)
- 2012 highlights in translational 'omics (2013) (0)
- Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases (2019) (0)
- Disease Mutation Detection by Next Generation Sequencing (2010) (0)
- Berardinelli-Seip syndrome patient with novel AGPAT 2 splicesite mutation and concomitant development of non-diabetic polyneuropathy Short title : New AGPAT 2 splicesite mutation with polyneuropathy (2019) (0)
- Phenotypic expansion illuminates multilocus pathogenic variation (2018) (0)
- Somatic mosaicism is implicated in the etiology of XLAG syndrome (2016) (0)
- A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics (2016) (0)
- SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads (2017) (0)
- De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome (2022) (0)
- RDH11, a new gene for autosomal recessive retinitis pigmentosa with syndromic features (2014) (0)
- Inside Back Cover, Volume 41, Issue 1 (2019) (0)
- TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. (2022) (0)
- Nonsense mediated mRNA decay as a modifier of neurologic disease traits and phenotypes (2007) (0)
- A Searchable Video Database of Dysmorphology (1995) (0)
- Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta. (2023) (0)
- Integrated Whole Exome Sequencing and Chromosomal Microarray in Familial Parkinson’s Disease (N3.001) (2018) (0)
- Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in thePMP22 gene (1994) (0)
- A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly (2023) (0)
- Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs (2016) (0)
- Reply to Boylan (1994) (0)
- Olfactory receptor cluster copy number is associated with age at onset of Alzheimer's disease (2009) (0)
- Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis (2018) (0)
- RAI1, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome (2016) (0)
- Contents Vol. 123, 2008 (2009) (0)
- De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome (2019) (0)
- Conduction velocities in Charcot‐Marie‐Tooth polyneuropathy type 1 (1994) (0)
- Genetic and Mechanistic Diversity in Hemophagocytic Lymphohistiocytosis (2018) (0)
- MP76-06 WHOLE-EXOME SEQUENCING IDENTIFIES NOVEL HOMOZYGOUS MUTATION IN NPAS2 IN FAMILY WITH NONOBSTRUCTIVE AZOOSPERMIA (2015) (0)
- Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes (2015) (0)
- Partial Pharmacological “Rescue” and MRS spectroscopy in Two Carriers of a Rare Marker Chromosome Containing Extra Copies of the GLDC Gene Encoding a Glycine-Degrading Enzyme Implicate NMDA Receptor Hypofunction in Psychosis (2020) (0)
- Partial loss of function mutations in GINS4 lead to natural killer cell deficiency with neutropenia (2022) (0)
- From genomic medicine to precision medicine: highlights of 2015 (2016) (0)
- Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation (2005) (0)
- MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death (2016) (0)
- Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. (2022) (0)
- Fingerprint Identification of the bacterial strains of the use of repetitive DNA Sequence amplification (1992) (0)
- Nicholas Katsanis , Mendelian Recessive Disorder Triallelic Inheritance in Bardet-Biedl Syndrome (2010) (0)
- Reviewer Acknowledgment (2013) (0)
- ABCA4 Mutational Analysis in a Cohort of 30 Recessive Retinitis Pigmentosa Families (2004) (0)
- The human story behind human genome sequencing (2023) (0)
- Reply to Inácio et al (2007) (0)
- Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity (2020) (0)
- TLR7 gain-of-function genetic variation causes human lupus (2022) (0)
- The Clinical characteristics of X-linked acro-gigantism syndrome (2015) (0)
- SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia (2023) (0)
- Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. (2023) (0)
- Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (2017) (0)
- SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. (2023) (0)
- Mutations in VRK 1 AssociatedWith ComplexMotor and Sensory Axonal Neuropathy PlusMicrocephaly (2013) (0)
- Allan Award Introduction: Arthur L. Beaudet. (2008) (0)
- 708: Oligo-based array CGH on a single cell - the way toward noninvasive prenatal diagnosis of genomic imbalance (2009) (0)
- Behind the scenes of the HGP (2003) (0)
- Molecular Diagnostics of Stargardt Disease by Genotyping Patients on the ABCR (ABCA4) Microarray (2003) (0)
- Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 (2020) (0)
- Erratum (2014) (0)
- Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish (2019) (0)
- Hypergonadotropic Hypogonadism in 46, XX Adolescents Without Gonadotoxic Therapy: Clinical Features and Molecular Etiologies (2019) (0)
- De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities (2021) (0)
- PMP 22 exon 4 deletion causes ER retention of PMP 22 and a gain-of-function allele in CMT 1 E (2017) (0)
- Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterations (2017) (0)
- Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy (2016) (0)
- 685: Prenatal detection of genomic imbalances in six days from uncultured amniocytes by targeted oligonucleotide array CGH (2008) (0)
- Excess folic acid intake increases DNA de novo point mutations (2023) (0)
- Anna M. MigdalskaLouise van der WeydenOzama Ismail • The Sanger Mouse Genetics ProjectAlistair G. RustMamunur Rashid • Jacqueline K. WhiteGabriela Sanchez-AndradeJames R. Lupski • Darren W. LoganMark J. ArendsDavid J. Adams (2012) (0)
- Mosaic and constitutional mutations of MTOR cause a spectrum of developmental brain disorders from focal cortical dysplasia to diffuse megalencephaly (2016) (0)
- Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns (2017) (0)
- Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant (2021) (0)
- The importance of using fluorescence in situ hybridization for the diagnosis of Smith-Magenis syndrome (1994) (0)
- The Deep Genome Project (2020) (0)
- Genetic architecture of laterality defects revealed by whole exome sequencing (2019) (0)
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