David R. Adams

Also affiliated with National Human Genome Research Institute

Biochemistry, Genetics and Molecular BiologyMathematicsComputer Science

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 47 papers. Top paper: “DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature”.

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

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1544

N/A

0.416DataRank · unranked

15 citations

Ellen F. Macnamara, Precilla D’Souza, John Yang, Gilbert Vézina, Undiagnosed Diseases Network +5 more

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

PLoS Genetics(2021)10.1371/journal.pgen.1009854

N/A

0.385DataRank · unranked

12 citations

Hannah Waxman, Rui Hong, Gavin D. Lagani, Sheng-Yong Niu, Féodora Bertherat +9 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0.360DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0.345DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Rare(2024)10.1016/j.rare.2024.100040

N/A

0.208DataRank · unranked

3 citations

Samuel J. Huang, Alyna Khan, Katie Golden‐Grant, Brenna Boyd, Elisabeth A. Rosenthal +37 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0.170DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.29.577876

N/A

0.165DataRank · unranked

2 citations

Jaemin Kim, Yogesh K. Kushwaha, Alex Rajewski, Fabian David Nonis, Chintda Santiskulvong +17 more

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

Rare(2025)10.1016/j.rare.2025.100065

N/A

0.165DataRank · unranked

2 citations

Lynne A. Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl +4 more

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

Journal of Translational Genetics and Genomics(2022)10.20517/jtgg.2021.63

N/A

0.104DataRank · unranked

1 citations

Elizabeth A. Burke, David R. Adams, Colleen A. Evans, Dorothy Bulas, Stuart Weinerman +7 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

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

Human Mutation(2021)10.1002/humu.24257

N/A

0DataRank · unranked

12 citations

Linnea Lundh, Dawn E. Watkins‐Chow, Laura L. Baxter, Erola Pairo-Castineira, NISC Comparative Sequencing Program +5 more

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

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108177

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Amy White, Kim K. Nickander, Coleman Turgeon, Kristen Liedtke +31 more

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

Human Molecular Genetics(2022)10.1093/hmg/ddac173

N/A

0DataRank · unranked

13 citations

Matt C. Danzi, André B. P. Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender +13 more

A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63045

N/A

0DataRank · unranked

6 citations

Wadih M. Zein, Robert B. Hufnagel, Christine W. Ku, Rena A. Godfrey, Lynne A. Wolfe +4 more

Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome

Brain(2022)10.1093/brain/awac357

N/A

0DataRank · unranked

3 citations

Thomas B. Nutman, Tory P. Johnson, Scott F. Dowell, James J. Sejvar, Michael R. Wilson +28 more

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

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

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

Journal of Medical Genetics(2023)10.1136/jmg-2023-109420

N/A

0DataRank · unranked

22 citations

Elena‐Raluca Nicoli, Chulaluck Kuptanon, Joseph C. Roney, Jenny Serra‐Vinardell, Prashant Sharma +12 more

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

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.05.012

N/A

0DataRank · unranked

20 citations

M. Gillis, Linnea Lundh, Laura L. Baxter, Julia C. Wedel, Dawn E. Watkins‐Chow +6 more

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

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001

N/A

0DataRank · unranked

13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107707

N/A

0DataRank · unranked

1 citations

Amelia J. Loydpierson, Yvonne L. Latour, Precilla D’Souza, Jennifer L. Murphy, Lynne A. Wolfe +14 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 more

Genomic Diagnoses for Ectopic Intracerebral Calcifications

Neurology Genetics(2023)10.1212/nxg.0000000000200083

N/A

0DataRank · unranked

1 citations

Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David R. Adams, Camilo Toro +1 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

JIMD Reports(2024)10.1002/jmd2.12459

N/A

0DataRank · unranked

4 citations

Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine V. Malicdan, David R. Adams +4 more

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.008

N/A

0DataRank · unranked

3 citations

Eunjin Ryu, Benjamin Steger, Abhijit Dixit, Yoshihiko Saito, Juyeong Yoo +36 more

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)

Stem Cell Research(2024)10.1016/j.scr.2024.103600

N/A

0DataRank · unranked

2 citations

Petcharat Leoyklang, Mary E. Hackbarth, Е. С. Пак, Amalia Dutra, Richard G. Tait +6 more

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

medRxiv(2024)10.1101/2024.01.04.24300778

N/A

0DataRank · unranked

5 citations

Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David R. Adams, Adam L. Hartman +23 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

N/A

0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

UNC Libraries(2024)10.17615/yhhx-wm40

N/A

0DataRank · unranked

0 citations

Mathew B. Harms, Yuk Yee Leung, Camilo Toro, David R. Adams, Erin L. Heinzen +4 more

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109105

N/A

0DataRank · unranked

3 citations

Thomas Cassini, Jiayu Fu, Barbara N. Pusey, Ellen F. Macnamara, F. Graeme Frost +7 more

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Nature Communications(2025)10.1038/s41467-025-65556-8

N/A

0DataRank · unranked

3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 more

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33047

N/A

0DataRank · unranked

1 citations

Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski +15 more

Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.10.13.682036

N/A

0DataRank · unranked

1 citations

Yuhong Wang, Nathan P. Coussens, Vijay K. Kalaskar, Zuhal Eraslan, Samuel Grondin +21 more

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

PLoS Genetics(2020)10.1371/journal.pgen.1008841

N/A

0DataRank · unranked

22 citations

Aurélie Clément, Sarah J. Stednitz, Jennifer Kyle, Judy Peirce, Marcie McFadden +18 more

BK channel activity in skin fibroblasts from patients with neurological disorder

Channels(2025)10.1080/19336950.2025.2542811

N/A

0DataRank · unranked

0 citations

Thomas R. Middendorf, Deborah DiSilvestre, David R. Adams, William A. Gahl, Ellen F. Macnamara +5 more

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12249

N/A

0DataRank · unranked

9 citations

Bobby G. Ng, Shino Shimada, Lynne A. Wolfe, David R. Adams, Undiagnosed Diseases Network +6 more

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

Disease Models & Mechanisms(2020)10.1242/dmm.041913

N/A

0DataRank · unranked

10 citations

Tong Wang, Trevor Moreland, Rajalakshmi Veeranan‐Karmegam, Manxiu Ma, Chelsi Jeter +15 more

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

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61542

N/A

0DataRank · unranked

8 citations

Kyle E. Reichard, Lynne A. Wolfe, Brian P. Brooks, John J. DiGiovanna, Donald W. Hadley +7 more

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

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.02.005

N/A

0DataRank · unranked

24 citations

Minal Menezes, Yiran Guo, Scott McLean, Håkon Håkonarson, Felicity Collins +13 more

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

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.03.366740

N/A

0DataRank · unranked

0 citations

Rui Hong, Sheng-Yong Niu, Féodora Bertherat, Lynne A. Wolfe, Christine May Malicdan +7 more

Free sialic acid storage disorder: Progress and promise

Neuroscience Letters(2021)10.1016/j.neulet.2021.135896

N/A

0DataRank · unranked

45 citations

Mary E. Hackbarth, David R. Adams, Melissa Wasserstein, Marc C. Patterson, Steven U. Walkley +11 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

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

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

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

Hypertension(2021)10.1161/hypertensionaha.121.17624

N/A

0DataRank · unranked

28 citations

Jason C. Collins, Lynne A. Wolfe, Thomas C. Markello, David R. Adams, William A. Gahl +3 more