William B. Dobyns

MedicineBiochemistry, 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 5%percentile

0.572Author 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.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z

Top 34%

0.572DataRank

Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Papers

Driven by 30 papers — median percentile 66. Top paper: “TMEM161B modulates radial glial scaffolding in neocortical development”.

TMEM161B modulates radial glial scaffolding in neocortical development

Proceedings of the National Academy of Sciences(2023)10.1073/pnas.2209983120

N/A

0.632DataRank · unranked

16 citations

Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee +15 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z

Top 34%

0.572DataRank

Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Genetics in Medicine(2022)10.1016/j.gim.2022.07.005

N/A

0.477DataRank · unranked

23 citations

Rachel VanCoillie, Elizabeth VanSickle, Deanna Alexis Carere, Kara Withrow, Erin Torti +43 more

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61615

N/A

0DataRank · unranked

35 citations

Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph T.C. Shieh +26 more

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

medRxiv(2020)10.1101/2020.09.09.20187104

N/A

0DataRank · unranked

9 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +71 more

Spatial and single-cell transcriptional landscape of human cerebellar development

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.06.30.174391

N/A

0DataRank · unranked

8 citations

Zach Thomson, Parthiv Haldipur, Mei Deng, Andrew E. Timms, Matthew Hirano +16 more

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.11.013

N/A

0DataRank · unranked

116 citations

Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck +42 more

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in Medicine(2021)10.1038/s41436-021-01114-z

N/A

0DataRank · unranked

93 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +76 more

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

Molecular Cell(2021)10.1016/j.molcel.2021.09.020

N/A

0DataRank · unranked

57 citations

Kimberly A. Aldinger, Chi Vicky Cheng, Takae Kiyama, Mitali Dave, Hanna K. McNamara +21 more

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

Brain(2021)10.1093/brain/awab376

N/A

0DataRank · unranked

55 citations

Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E. Timms, Josef Šulc +19 more

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2021-107751

N/A

0DataRank · unranked

30 citations

Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis +67 more

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

Molecular Cell(2021)10.1016/j.molcel.2021.10.023

N/A

0DataRank · unranked

14 citations

Kimberly A. Aldinger, Chi Vicky Cheng, Takae Kiyama, Mitali Dave, Hanna K. McNamara +22 more

A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology

Frontiers in Genetics(2021)10.3389/fgene.2021.694312

N/A

0DataRank · unranked

8 citations

Weiting Tang, Nidhi Kaur Bhatia, Yuchen Xu, Nabina Paudyal, Ding Liu +11 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

medRxiv(2021)10.1101/2021.09.06.21262776

N/A

0DataRank · unranked

8 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +64 more

NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.30.437620

N/A

0DataRank · unranked

2 citations

Kimberly A. Aldinger, Chi Vicky Cheng, Takae Kiyama, Mitali Dave, Hanna K. McNamara +17 more

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain(2022)10.1093/brain/awac330

N/A

0DataRank · unranked

32 citations

Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M. Butler, Alison Schreiber +51 more

Monoallelic and biallelic mutations inRELNunderlie a graded series of neurodevelopmental disorders

Brain(2022)10.1093/brain/awac164

N/A

0DataRank · unranked

22 citations

Renzo Guerrini, Charles J. Billington, A. James Barkovich, Philine Dinkel, Elena Freri +21 more

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

Genetics in Medicine(2023)10.1016/j.gim.2023.100856

N/A

0DataRank · unranked

9 citations

Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche +49 more

Undifferentiated psychosis or schizophrenia associated with vermis‐predominant cerebellar hypoplasia

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63416

N/A

0DataRank · unranked

3 citations

Mitchell P. Ward, William B. Dobyns, Alison Leslie

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Research Square(2023)10.21203/rs.3.rs-3317938/v1

N/A

0DataRank · unranked

4 citations

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin +57 more

Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy

Neurology(2024)10.1212/wnl.0000000000209764

N/A

0DataRank · unranked

4 citations

René Labounek, Ashish O. Gupta, Troy C. Lund, Paul J. Orchard, William B. Dobyns +10 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

UNC Libraries(2024)10.17615/2254-fj45

N/A

0DataRank · unranked

0 citations

Rolph Pfundt, Birgit Elisabeth Kristiansen, Mary J. Green, Sally Ann Lynch, Amanda Openshaw +67 more

Beyond hearing loss: exploring neurological and neurodevelopmental sequelae in asymptomatic congenital cytomegalovirus infection

Pediatric Research(2025)10.1038/s41390-025-04232-5

N/A

0DataRank · unranked

10 citations

Lauren D Haisley, William B. Dobyns, Mark R. Schleiss, Meghan R. Swanson

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5

N/A

0DataRank · unranked

4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.05.013

N/A

0DataRank · unranked

1 citations

Rosie Sullivan, Mischa S. G. Ruegg, Julia A. Horsfield, Jordan Doran, Gemma Poke +30 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Neuron(2020)10.1016/j.neuron.2020.01.042

N/A

0DataRank · unranked

223 citations

Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan +49 more

Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64093

N/A

0DataRank · unranked

2 citations

Chi Vicky Cheng, Stefano Giuseppe Caraffi, Ivan Ivanovski, Gianluca Piatelli, Edoardo Errichiello +29 more

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

European Journal of Human Genetics(2020)10.1038/s41431-020-0571-6

N/A

0DataRank · unranked

38 citations

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thévenon, Ange‐Line Bruel +60 more

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Neuron(2020)10.1016/j.neuron.2020.01.027

N/A

0DataRank · unranked

35 citations

Alison M. Muir, Won‐Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao +26 more

William B. Dobyns

Indexed papers

Top data-sharing exemplar

Papers