D. Adams

发表

Analysis of DNA sequence variants detected by high‐throughput sequencing

J. Mullikin, D. Adams, M. Sincan, 2012, Human mutation.

AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year

S. Nelson, E. Ashley, M. Wheeler, 2021, medRxiv.

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Michael Brudno, Sergiu Dumitriu, Orion J. Buske, 2015, Human mutation.

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Damian Smedley, Michael Brudno, Julius O. B. Jacobsen, 2015, Genetics in Medicine.

Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

D. Smedley, C. Mungall, M. Brudno, 2016, Front. Med..

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Euan A Ashley, Monte Westerfield, Joseph Loscalzo, 2018, The New England journal of medicine.

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

Stephen F Traynelis, David R Adams, Jing Zhang, 2016, American journal of human genetics.

Explorations to improve the completeness of exome sequencing

Barbara N. Pusey, D. Adams, W. Gahl, 2016, BMC Medical Genomics.

Genome-scale sequencing to identify genes involved in Mendelian disorders.

D. Adams, T. Markello, 2013, Current protocols in human genetics.

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

Yan Huang, Murat Sincan, William A Gahl, 2012, Human mutation.

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).

A. Vanderver, R. Schiffmann, A. Durr, 2009, Brain : a journal of neurology.

Atypical patterns of inheritance.

D. Adams, A. Gropman, 2007, Seminars in pediatric neurology.

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.

Kym M Boycott, David R Adams, Gabrielle Lemire, 2020, Annual review of genomics and human genetics.

The National Institutes of Health undiagnosed diseases program

David R Adams, D. Adams, C. Tifft, 2014, Current opinion in pediatrics.

Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity

D. Adams, W. Gahl, T. Markello, 2021, Hypertension.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

H. Hakonarson, Yiran Guo, D. Adams, 2020, Molecular Genetics and Metabolism.

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

Ellen F. Macnamara, M. Westerfield, D. Adams, 2020, PLoS genetics.

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

B. Behnam, D. Adams, C. Toro, 2019, Molecular genetics and metabolism.

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

Barbara N. Pusey, P. Stankiewicz, J. Mullikin, 2016, Orphanet Journal of Rare Diseases.

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

H. Freeze, D. Adams, C. Boerkoel, 2016, American journal of human genetics.

Potential therapeutic response in a severe case of autosomal dominant osteopetrosis type I

D. Adams, C. Toro, W. Gahl, 2022, Journal of Translational Genetics and Genomics.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

I. Scheffer, D. Nickerson, M. Bamshad, 2022, Journal of Medical Genetics.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells.

D. Adams, C. Toro, W. Gahl, 2019, JCI insight.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Forkhead box R1-mediated stress response linked to a case of human microcephaly and brain atrophy

D. Adams, W. Gahl, T. Markello, 2020, bioRxiv.

The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program’s Experience Developing Custom Software to Support Research for Complex-Disease Families

D. Adams, M. Sincan, W. Gahl, 2015, Children.

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

D. Adams, W. Gahl, T. Markello, 2019, PLoS genetics.

In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium

Nathan A Hotaling, D. Adams, M. Abu-Asab, 2021, Stem cell reports.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Harper B. Fauni, D. Adams, C. Toro, 2018, Human molecular genetics.

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

D. Adams, W. Gahl, T. Markello, 2017, Molecular genetics and metabolism.

Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia

D. Adams, W. Zein, B. Brooks, 2022, Ophthalmology science.

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Ellen F. Macnamara, D. Adams, C. Tifft, 2020, Molecular genetics & genomic medicine.

Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3

D. Adams, M. Abu-Asab, Chi-Chao Chan, 2018, Investigative ophthalmology & visual science.

Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program

Ellen F. Macnamara, J. Mindell, D. Adams, 2022, Journal of inherited metabolic disease.

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Damian Smedley, Cheng-Kang Hsieh, Karen Xu, 2017, Front. Med..

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

D. Adams, W. Zein, L. Wolfe, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

D. Adams, W. Gahl, M. Huizing, 2013, Human mutation.

Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

M. Brilliant, D. Adams, W. Gahl, 2011, The Journal of clinical investigation.

A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

Theresa Guo, Paul S. Meltzer, Kari Stefansson, 2013, Cell.

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

D. Adams, W. Gahl, M. Huizing, 2019, Orphanet Journal of Rare Diseases.

One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B

K. Wakamatsu, S. Ito, D. Adams, 2019, JCI insight.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Wei Zheng, Yan Huang, Tim Wood, 2019, American journal of human genetics.

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus

D. Watkins-Chow, W. Pavan, I. Jackson, 2021, Human mutation.

Genomewide significance testing of variation from single case exomes

D. Conrad, S. Zöllner, D. Adams, 2016, Nature Genetics.

A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1

David R Adams, Barbara N. Pusey, D. Adams, 2016, Cold Spring Harbor molecular case studies.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Ellen F. Macnamara, J. Lupski, E. Puffenberger, 2018, American journal of human genetics.

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings

D. Adams, C. Toro, C. Tifft, 2019, Genetics in Medicine.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Michael F. Wangler, J. Rosenfeld, H. Bellen, 2017, American journal of human genetics.

Guidelines for investigating causality of sequence variants in human disease

D. G. MacArthur, T. A. Manolio, D. P. Dimmock, 2014, Nature.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

Stephen F Traynelis, William A Gahl, David R Adams, 2014, Annals of clinical and translational neurology.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

W. Chung, J. Lupski, R. Gibbs, 2015, Neuron.

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

K. F. Fajardo, J. Snyder, D. Kerr, 2014, Molecular genetics and metabolism.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Harper B. Fauni, D. Adams, C. Toro, 2018, Human molecular genetics.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

V. Maduro, C. Schwartz, D. Adams, 2015, Orphanet Journal of Rare Diseases.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

William A Gahl, David R Adams, John J Mulvihill, 2016, Molecular genetics and metabolism.

Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy

D. Adams, T. Pierson, C. Boerkoel, 2014, Nature Communications.

The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

Rena A. Godfrey, Colleen E. Wahl, D. Adams, 2014, Genetics in Medicine.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Euan A Ashley, Joseph Loscalzo, Alexa T McCray, 2017, American journal of human genetics.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Neurologic involvement in patients with atypical Chediak-Higashi disease

D. Adams, C. Toro, W. Gahl, 2017, Neurology.

Neurologic involvement in patients with atypical Chediak-Higashi disease

D. Adams, C. Toro, W. Gahl, 2016, Neurology.

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Disease Program experience

D. Adams, M. Sincan, C. Boerkoel, 2016, Genetics in Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

Graydon B. Gonsalvez, Hyung-Goo Kim, D. Adams, 2020, Disease Models & Mechanisms.

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

D. Adams, C. Toro, C. Tifft, 2020, American journal of medical genetics. Part A.

Deficiency in the endocytic adaptor protein PHETA1/2 impairs renal and craniofacial development

Graydon B. Gonsalvez, Hyung-Goo Kim, D. Adams, 2019, bioRxiv.

Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism

Y. Huang, D. Adams, M. Sincan, 2018, Clinical genetics.

Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

D. Adams, C. Toro, C. Tifft, 2017, Human mutation.

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

J. Mullikin, V. Maduro, D. Adams, 2015, BMC Genomics.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

D. Adams, C. Boerkoel, W. Gahl, 2015, Molecular genetics and metabolism.

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

D. Adams, W. Gahl, J. Stephen, 2017, PloS one.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Free sialic acid storage disorder: Progress and promise

M. Lek, R. Zoncu, M. Patterson, 2021, Neuroscience Letters.

Free sialic acid storage disease without sialuria

R. Schiffmann, D. Adams, M. Huizing, 2009, Annals of neurology.

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W

K. Wetherby, D. Adams, Xinjing Wang, 2017, Cell & Bioscience.

Phenotypic evolution of UNC80 loss of function

V. Maduro, D. Adams, C. Toro, 2016, American journal of medical genetics. Part A.

FOXR1 regulates stress response pathways and is necessary for proper brain development

D. Adams, W. Gahl, T. Markello, 2021, PLoS genetics.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

H. Mefford, H. Rehm, M. Koenig, 2021, Brain : a journal of neurology.

Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning

Sanja Fidler, Michael Brudno, Aryan Arbabi, 2019, JMIR medical informatics.

Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

Ellen F. Macnamara, M. Westerfield, D. Adams, 2020, PLoS genetics.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Ellen F. Macnamara, Barbara N. Pusey, J. Rosenfeld, 2023, American journal of human genetics.

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.

D. Adams, C. Boerkoel, W. Gahl, 2012, Molecular genetics and metabolism.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Undiagnosed Diseases Network, S. Züchner, A. V. van Kuilenburg, 2022, Human molecular genetics.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings

D. Adams, C. Toro, C. Tifft, 2019, Genetics in Medicine.

Sudden infant death “syndrome”—Insights and future directions from a Utah population database analysis

H. Coon, J. Opitz, D. Adams, 2017, American journal of medical genetics. Part A.

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

D. Nickerson, M. Bamshad, H. Freeze, 2020, Journal of inherited metabolic disease.

Explorations to improve the completeness of exome sequencing

Barbara N. Pusey, D. Adams, W. Gahl, 2016, BMC Medical Genomics.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Identifying Clinical Terms in Free-Text Notes Using Ontology-Guided Machine Learning

Sanja Fidler, Michael Brudno, Aryan Arbabi, 2019, RECOMB.

A call for global action for rare diseases in Africa

Shuyang Zhang, C. Austin, C. Nellåker, 2019, Nature Genetics.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

J. Mullikin, V. Maduro, D. Adams, 2015, BMC Genomics.

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.

D. Watkins-Chow, W. Pavan, D. Adams, 2023, American journal of human genetics.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Michael F. Wangler, W. Chung, A. Fatemi, 2019, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

M. Brilliant, D. Adams, W. Gahl, 2011, The Journal of clinical investigation.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

W. Chung, J. Lupski, R. Gibbs, 2015, Neuron.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Michael F. Wangler, J. Rosenfeld, H. Bellen, 2017, American Journal of Human Genetics.

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

D. Adams, C. Toro, M. Huizing, 2023, Journal of medical genetics.

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

D. Adams, W. Gahl, M. Huizing, 2013, Human mutation.