Lynne A. Wolfe

National Human Genome Research Institute

Biochemistry, Genetics and Molecular Biology

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 2%percentile

2.0Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Lessons learned from 40 novel PIGA patients and a review of the literature

Epilepsia(2020)10.1111/epi.16545

Top 10%

2.0DataRank

Top 10%58 citations

Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch +49 more

Papers

Driven by 32 papers — median percentile 90. Top paper: “Lessons learned from 40 novel PIGA patients and a review of the literature”.

Lessons learned from 40 novel PIGA patients and a review of the literature

Epilepsia(2020)10.1111/epi.16545

Top 10%

2.0DataRank

Top 10%58 citations

Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch +49 more

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

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

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

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31823

N/A

0.489DataRank · unranked

25 citations

Priyam Jani, Wadih M. Zein, Precilla D’Souza, Lynne A. Wolfe, Jennifer Chisholm +6 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

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in Medicine(2022)10.1016/j.gim.2022.09.007

N/A

0.373DataRank · unranked

11 citations

Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta, Kerstin Alt +39 more

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12595

N/A

0.345DataRank · unranked

9 citations

Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam +15 more

PIGNencephalopathy: Characterizing the epileptology

Epilepsia(2022)10.1111/epi.17173

N/A

0.330DataRank · unranked

8 citations

Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino +64 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

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

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

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

MYH2-associated myopathy caused by a novel splice-site variant

Neuromuscular Disorders(2022)10.1016/j.nmd.2022.12.014

N/A

0DataRank · unranked

8 citations

May Christine V. Malicdan, Ellen F. Macnamara, Tanya Lehky, Iren Horkayne‐Szakaly, Yan Huang +6 more

ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12527

N/A

0DataRank · unranked

15 citations

Bobby G. Ng, Alis Guberinic, Earnest James Paul Daniel, Nicole Engelhardt, Rita Barone +11 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

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

Genetic counseling for congenital disorders of glycosylation (CDG)

Journal of Genetic Counseling(2024)10.1002/jgc4.1856

N/A

0DataRank · unranked

6 citations

Lynne A. Wolfe, Ellen F. Macnamara, Tara Weixel

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG)

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12782

N/A

0DataRank · unranked

2 citations

Dee Adedipe, Glennis Muldoon, Christina Lam, Donna M. Krasnewich, Audrey Thurm +2 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

0DataRank · unranked

10 citations

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

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

JIMD Reports(2025)10.1002/jmd2.70029

N/A

0DataRank · unranked

0 citations

Laura Pollard, Lynne A. Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang +5 more

An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report

BMC Neurology(2025)10.1186/s12883-025-04259-5

N/A

0DataRank · unranked

0 citations

Daniel Benavides, Connor Lewis, Gilbert Vézina, Lynne A. Wolfe, Ellen F. Macnamara +10 more

Issue Information

Human Mutation(2018)10.1002/humu.23568

N/A

0DataRank · unranked

0 citations

R. Donald Harvey, Tracy Dudding‐Byth, Liliana Catherine Patiño, Isabelle Beau, Adrien Morel +135 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

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

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

Defining the clinical phenotype of Saul–Wilson syndrome

Genetics in Medicine(2020)10.1038/s41436-019-0737-1

N/A

0DataRank · unranked

21 citations

Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth Berger, William G. Wilson +26 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

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12290

N/A

0DataRank · unranked

38 citations

Erik A. Eklund, Sergey A. Shiryaev, Yin Yao Dong, Mary‐Alice Abbott, Carla Asteggiano +48 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

Lynne A. Wolfe

Indexed papers

Top data-sharing exemplar

Papers