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Author Details

James R Lupski
Baylor College of Medicine
1981
858
127
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37921537Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.Am J Med Genet A2024
37951597Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Brain2024
37921537Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.Am J Med Genet A2024
37714437Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.J Allergy Clin Immunol2024
38054405Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.Genet Med2024
37714437Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.J Allergy Clin Immunol2024
37951597Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.Brain2024
38054405Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.Genet Med2024
36318270Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.Genet Med2023
36150828Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.J Med Genet2023
36401616Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.Genet Med2023
36318270Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.Genet Med2023
37601978Somatic cell structural variant mutagenesis and neurologic disease.Cell Genom2023
37751738PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.Am J Hum Genet2023
37711075Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.J Inherit Metab Dis2023
37873367Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.bioRxiv2023
37157980Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.Clin Genet2023
37092537Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.Genet Med2023
36909564SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia.Res Sq2023
37031326SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.Hum Genet2023
37467750Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.Am J Hum Genet2023
36965478Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.Am J Hum Genet2023
36757831The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.Brain2023
37071997SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.Am J Hum Genet2023
37188825Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.Eur J Hum Genet2023
37124138Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.HGG Adv2023
36996813Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.Am J Hum Genet2023
37167966Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.Am J Hum Genet2023
37043638Genomics in Clinical Practice.N Engl J Med2023
37043503Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.Brain2023
37041148FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nat Commun2023
36853234Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.Genet Med2023
36849450Excess folic acid intake increases DNA de novo point mutations.Cell Discov2023
36724785Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.Am J Hum Genet2023
36598158A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.Am J Med Genet A2023
37531237Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.Hum Mol Genet2023
37517035Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Brain2023
37751738PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.Am J Hum Genet2023
37711075Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.J Inherit Metab Dis2023
37517035Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Brain2023
37873367Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.bioRxiv2023
37601978Somatic cell structural variant mutagenesis and neurologic disease.Cell Genom2023
37531237Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.Hum Mol Genet2023
37157980Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.Clin Genet2023
37124138Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.HGG Adv2023
37188825Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.Eur J Hum Genet2023
37043638Genomics in Clinical Practice.N Engl J Med2023
37043503Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.Brain2023
37041148FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nat Commun2023
37467750Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.Am J Hum Genet2023
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Collaborators

Richard A Gibbs
Baylor College of Medicine
Co-authored papers 162
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 156
Zeynep Coban Akdemir
Baylor College of Medicine
Co-authored papers 133
Donna M Muzny
Baylor College of Medicine
Co-authored papers 127
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 122
Pengfei Liu
Co-authored papers 72
Tomasz Gambin
Institute of Computer Science, Warsaw University of Technology
Co-authored papers 69
Weimin Bi
Co-authored papers 65
Eric Boerwinkle
Baylor College of Medicine
Co-authored papers 54
Yaping Yang
Baylor College of Medicine
Co-authored papers 46
Seema R Lalani
Co-authored papers 44
Arthur L Beaudet
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Co-authored papers 43
Vernon R Sutton
Baylor College of Medicine
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Feng Zhang
Obstetrics and Gynecology Hospital, Human Phenome Institute, Fudan University
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Oregon Health & Sciences University
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Northwestern University
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John W Belmont
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Henry Houlden
Institute of Neurology, University College London (UCL)
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Fernando Scaglia
Baylor College of Medicine
Co-authored papers 20
Christine R Beck
University of Connecticut Health Center
Co-authored papers 20
Cornelius F Boerkoel
University of British Columbia
Co-authored papers 18
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 15
Neil A Hanchard
Baylor College of Medicine.
Co-authored papers 15
Jianhong Hu
Co-authored papers 15
Michael F Wangler
Baylor College of Medicine
Co-authored papers 15
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 14
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 13
Rando Allikmets
Columbia University Medical Center
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Release 1.2