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Author Details

David R Adams
National Human Genome Research Institute, National Institutes of Health
2007
111
34
PMIDPaper TitleJournal TitlePublished Year
37788905Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.J Med Genet2024
37788905Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.J Med Genet2024
35913761Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.Hum Mol Genet2023
36181424Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.Brain2023
35913761Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.Hum Mol Genet2023
37547187Genomic Diagnoses for Ectopic Intracerebral Calcifications.Neurol Genet2023
36965478Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.Am J Hum Genet2023
37327787Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.Am J Hum Genet2023
36541585A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.Am J Med Genet A2023
37547187Genomic Diagnoses for Ectopic Intracerebral Calcifications.Neurol Genet2023
36965478Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.Am J Hum Genet2023
37327787Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.Am J Hum Genet2023
36541585A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.Am J Med Genet A2023
36181424Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.Brain2023
35021041In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium.Stem Cell Reports2022
36339947Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.Ophthalmol Sci2022
35490291Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.J Inherit Metab Dis2022
35790351Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.J Med Genet2022
35021041In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium.Stem Cell Reports2022
34878901Novel <i>CUL3</i> Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity.Hypertension2022
35790351Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.J Med Genet2022
35490291Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.J Inherit Metab Dis2022
36339947Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.Ophthalmol Sci2022
34878901Novel <i>CUL3</i> Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity.Hypertension2022
34246199A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.Hum Mutat2021
34246199A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.Hum Mutat2021
34723967FOXR1 regulates stress response pathways and is necessary for proper brain development.PLoS Genet2021
34415322Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.Brain2021
34723967FOXR1 regulates stress response pathways and is necessary for proper brain development.PLoS Genet2021
34415322Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.Brain2021
32395830Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.J Inherit Metab Dis2020
32165008Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.Mol Genet Metab2020
32395830Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.J Inherit Metab Dis2020
31873296A call for global action for rare diseases in Africa.Nat Genet2020
32283948New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.Annu Rev Genomics Hum Genet2020
32150337A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.Am J Med Genet A2020
33104717Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.PLoS Genet2020
32544203yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.PLoS Genet2020
32866347The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.Am J Med Genet C Semin Med Genet2020
33159716DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.Mol Genet Genomic Med2020
31873296A call for global action for rare diseases in Africa.Nat Genet2020
33159716DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.Mol Genet Genomic Med2020
33104717Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.PLoS Genet2020
32866347The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.Am J Med Genet C Semin Med Genet2020
32283948New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.Annu Rev Genomics Hum Genet2020
32150337A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.Am J Med Genet A2020
32544203yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.PLoS Genet2020
32165008Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.Mol Genet Metab2020
30528883Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.Mol Genet Metab2019
30423312Glycomics in rare diseases: from diagnosis tomechanism.Transl Res2019
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Collaborators

William A Gahl
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 79
Cynthia J Tifft
National Human Genome Research Institute
Co-authored papers 39
Camilo Toro
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 38
Thomas C Markello
National Institutes of Health
Co-authored papers 35
May Christine V Malicdan
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 30
Cornelius F Boerkoel
University of British Columbia
Co-authored papers 30
Lynne A Wolfe
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 27
Gretchen Golas
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 19
Murat Sincan
Boston University School of Public Health
Co-authored papers 17
James C Mullikin
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Mariska Davids
University of Pretoria
Co-authored papers 9
Ellen Macnamara
Co-authored papers 9
Dimitre R Simeonov
University of California San Francisco
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Yan Huang
National Institute of Allergy and Infectious Diseases
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Brian P Brooks
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Catherine Groden
National Institutes of Health Intramural Research Program
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Praveen F Cherukuri
Sanford School of Medicine, University of South Dakota
Co-authored papers 7
Prashant Sharma
Co-authored papers 6
Carlos R Ferreira
Co-authored papers 6
Valerie Maduro
NIH and National Human Genome Research Institute
Co-authored papers 6
William P Bone
University of Pennsylvania - Perelman School of Medicine
Co-authored papers 6
Amanda E Links
National Institutes of Health
Co-authored papers 6
Melissa A Haendel
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 5
Elizabeth Lee
National Institutes of Health
Co-authored papers 5
Melissa A Haendel
Co-authored papers 5
Zaheer Valivullah
Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Co-authored papers 5
Rena Godfrey
National Human Genome Research Institute, National Institutes of Health
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Michele Nehrebecky
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Co-authored papers 5
Euan A Ashley
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Release 1.2