David B. Goldstein

Also affiliated with Electronic BioSciences (United States)

Biochemistry, Genetics and Molecular BiologyMedicine

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 1%percentile

6.8Author DataRank

Indexed papers

3in 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 3 indexed papers 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.

A structural variation reference for medical and population genetics

Nature(2020)10.1038/s41586-020-2287-8

Top 3%

6.7DataRank

Top 3%1180 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +201 more

Papers

Driven by 48 papers — median percentile 22. Top paper: “A genomic mutational constraint map using variation in 76,156 human genomes”.

A genomic mutational constraint map using variation in 76,156 human genomes

Nature(2023)10.1038/s41586-023-06045-0

N/A

9.6DataRank · unranked

1369 citations

Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo S. Wang +95 more

A structural variation reference for medical and population genetics

Nature(2020)10.1038/s41586-020-2287-8

Top 3%

6.7DataRank

Top 3%1180 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +201 more

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

Nature Reviews Genetics(2008)10.1038/nrg2344

N/A

1.2DataRank · unranked

2954 citations

Gonçalo R. Abecasis, Lon R. Cardon, David B. Goldstein, Julian Little, John P. A. Ioannidis +2 more

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

PLoS Genetics(2013)10.1371/journal.pgen.1003709

N/A

1.0DataRank · unranked

991 citations

Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein, Slavé Petrovski

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genetics in Medicine(2014)10.1038/gim.2014.22

N/A

0.821DataRank · unranked

238 citations

Vandana Shashi, Matthew Bainbridge, Michael J. Gambello, Thomas Bast, Rebecca Crimian +29 more

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

PLOS Genetics(2015)10.1371/journal.pgen.1005492

N/A

0.739DataRank · unranked

137 citations

Ayal B. Gussow, Quanli Wang, Matt Halvorsen, Yujun Han, William H. Weir +4 more

Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy

Journal of the American Society of Nephrology(2024)10.1681/asn.0000000501

N/A

0.709DataRank · unranked

16 citations

Andrew Beenken, Elena Martinelli, Ken Saida, Andrea L. Knob, Juntao Ke +45 more

Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

PLoS Genetics(2013)10.1371/annotation/32c8d343-9e1d-46c6-bfd4-b0cd3fb7a97e

N/A

0.680DataRank · unranked

92 citations

Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein, SlavÃ© Petrovski

Impact of Phenotype Definition on Genome-Wide Association Signals: Empirical Evaluation in Human Immunodeficiency Virus Type 1 Infection

American Journal of Epidemiology(2011)10.1093/aje/kwr024

N/A

0.470DataRank · unranked

22 citations

Jacques Fellay, Sara Colombo, Javier Martinez-Picado, Niels Obel, David B. Goldstein +4 more

Correction: Corrigendum: Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Genetics in Medicine(2014)10.1038/gim.2014.61

N/A

0.136DataRank · unranked

1 citations

Vandana Shashi, Matthew N. Bainbridge, Michael J. Gambello, Farah Zahir, Thomas Bast +28 more

Challenges associated with diagnostic exome sequencing in liver diseases

medRxiv(2022)10.1101/2022.06.21.22276400

Top 78%

0.104DataRank

Top 78%1 citations

Kelsie Bogyo, Sheena Kapoor, Emily Groopman, Amanda Thomas‐Wilson, Enrico Cocchi +15 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

0DataRank · unranked

42 citations

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

Quantitation of Pretreatment Serum IP-10 Improves the Predictive Value of an IL28B Gene Polymorphism for Hepatitis C Treatment Response

UNC Libraries(2020)10.17615/g4k4-mk75

N/A

0DataRank · unranked

3 citations

Jama M. Darling, Gregory Fanning, Mieke De Wit, Kevin V. Shianna, Nezam H. Afdhal +10 more

A catalog of associations between rare coding variants and COVID-19 outcomes

medRxiv(2020)10.1101/2020.10.28.20221804

N/A

0DataRank · unranked

31 citations

Julie Horowitz, Nilanjana Banerjee, Rouel Lanche, Anthony Marcketta, Evan K. Maxwell +75 more

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19

medRxiv(2020)10.1101/2020.12.18.20248226

N/A

0DataRank · unranked

10 citations

Guillaume Butler‐Laporte, Ning Shang, Chen Weng, Atlas Khan, Manal Alaamery +44 more

Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.01.072512

N/A

0DataRank · unranked

9 citations

Ryan S. Dhindsa, Gabriela De Almeida Sampaio, Andrew K. Ressler, Elizabeth E. Rafikian, Sabrina Petri +9 more

The paradoxical effects of K + channel gain-of-function are mediated by GABAergic neuron hypoexcitability and hyperconnectivity

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.03.05.978841

N/A

0DataRank · unranked

2 citations

Sophie Colombo, William F. Tobin, Sabrina Petri, Erin R. Cullen, Soledad Domínguez +13 more

Exome sequencing in obsessive–compulsive disorder reveals a burden of rare damaging coding variants

Nature Neuroscience(2021)10.1038/s41593-021-00876-8

N/A

0DataRank · unranked

91 citations

Jack Samuels, Ying Wang, Benjamin D. Greenberg, Abby J. Fyer, James T. McCracken +14 more

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

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

0DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis

Bone(2021)10.1016/j.bone.2021.116253

N/A

0DataRank · unranked

23 citations

Joseph Hostyk, Evan H. Baugh, Christie M. Buchovecky, Vimla S. Aggarwal, Robert R. Recker +9 more

Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels

iScience(2021)10.1016/j.isci.2021.103018

N/A

0DataRank · unranked

16 citations

Daniel Yakubovich, Tal Keren‐Raifman, Galit Tabak, Vladimir Tsemakhovich, Maria H. Pedersen +7 more

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Kidney International(2022)10.1016/j.kint.2022.03.019

N/A

0DataRank · unranked

193 citations

Émilie Cornec-Le Gall, Jan Halbritter, Krzysztof Kiryluk, Andrew Mallett, Rulan S. Parekh +57 more

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis

European Respiratory Journal(2022)10.1183/13993003.00577-2022

N/A

0DataRank · unranked

46 citations

Chad A. Newton, Binhan Wang, Gundula Povysil, Imre Noth, Fernando J. Martínez +4 more

Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice

iScience(2022)10.1016/j.isci.2022.105797

N/A

0DataRank · unranked

13 citations

Gabriela L.A. Sampaio, Sarah A. Dugger, Tamar Sapir, Daniel Krizay, Michael J. Boland +3 more

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

Nature Communications(2023)10.1038/s41467-023-43020-9

N/A

0DataRank · unranked

69 citations

David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon M. Lane, Chen Wang +75 more

Africa-specific human genetic variation near CHD1L associates with HIV-1 load

Nature(2023)10.1038/s41586-023-06370-4

N/A

0DataRank · unranked

27 citations

Immacolata Porreca, Gennaro Iaconis, Hoi Ping Mok, Subhankar Mukhopadhyay, Emre Karakoç +66 more

Investigation into the genetics of fetal congenital lymphatic anomalies

Prenatal Diagnosis(2023)10.1002/pd.6345

N/A

0DataRank · unranked

28 citations

Anna Alkelai, Jessica L. Giordano, Madhulatha Pantrangi, Meng‐Chang Hsiao, Chia‐Ling Nhan‐Chang +6 more

Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency

PLoS Genetics(2023)10.1371/journal.pgen.1010952

N/A

0DataRank · unranked

24 citations

Ryan S. Dhindsa, Gabriela Louise de Almeida Sampaio, Andrew K. Ressler, Elizabeth E. Rafikian, Sabrina Petri +10 more

Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor

Frontiers in Cellular Neuroscience(2023)10.3389/fncel.2023.1175895

N/A

0DataRank · unranked

16 citations

Haritha P. Reddy, Sabrina Petri, Damian J. Williams, Boris Shalomov, Ryan S. Dhindsa +11 more

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

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

N/A

0DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

medRxiv(2023)10.1101/2023.08.02.23293554

N/A

0DataRank · unranked

3 citations

David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon M. Lane, Chen Wang +75 more

Investigation of the genetic aetiology of Lewy body diseases with and without dementia

Brain Communications(2024)10.1093/braincomms/fcae190

N/A

0DataRank · unranked

12 citations

Raquel Real, Alejandro Martínez-Carrasco, Ruth Chia, Michael Lawton, Maryam Shoai +93 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

0DataRank · unranked

6 citations

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

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329

N/A

0DataRank · unranked

1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease

medRxiv(2024)10.1101/2024.03.02.24303632

N/A

0DataRank · unranked

0 citations

Sarah E. Kleinstein, Patrick R. Shea, Laura Wilson, G. Mani Subramanian, Robert P. Myers +5 more

Mapping and characterization of structural variation in 17,795 human genomes

UNC Libraries(2024)10.17615/bjv3-ys88

Top 100%

0DataRank

Top 100%0 citations

S.S. Rich, Elizabeth L. Appelbaum, Ryan M. Layer, Subra Kugathasan, Scott M. Damrauer +95 more

Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases

Nature Communications(2025)10.1038/s41467-025-56944-1

N/A

0DataRank · unranked

11 citations

Niedzica Camacho, Patrick R. Shea, Konrad H. Stopsack, Vijai Joseph, Oliver S. Burren +29 more

Contributors

Essentials of Genomic and Personalized Medicine(2010)10.1016/b978-0-12-374934-5.00076-3

N/A

0DataRank · unranked

0 citations

Peter J. Barnes, Ivor J. Benjamin, Mark Boguski, Brigitta Bondy, Roger E. Breitbart +64 more

Contributors

Genomic and Personalized Medicine(2009)10.1016/b978-0-12-369420-1.00122-0

N/A

0DataRank · unranked

0 citations

Matthew L. Anderson, Felicita Andreotti, Brian H. Annex, Anthony Antonellis, Dmitri Artemov +272 more

Causal Genetic Variants in Stillbirth

New England Journal of Medicine(2020)10.1056/nejmoa1908753

N/A

0DataRank · unranked

140 citations

Jessica L. Giordano, Vanessa Thorsten, Christie M. Buchovecky, Amanda Thomas‐Wilson, Mythily Ganapathi +21 more

Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.01.012

N/A

0DataRank · unranked

125 citations

David B. Goldstein, Xinchen Wang

Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy

Cell Reports(2020)10.1016/j.celrep.2020.108303

N/A

0DataRank · unranked

91 citations

Sophie Colombo, William F. Tobin, Sabrina Petri, Erin R. Cullen, Soledad Domínguez +13 more

Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice

Brain(2020)10.1093/brain/awaa147

N/A

0DataRank · unranked

83 citations

Christopher D. Bostick, Heather E. Olson, Jurrian Peters, Chad R. Camp, Daniel Krizay +21 more

Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease

Blood(2020)10.1182/blood.2019004161

N/A

0DataRank · unranked

59 citations

Ayse Bilge Ozel, Matthew Halvorsen, Paula M. Jacobi, Krista Golden, Mary Underwood +11 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

A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

Frontiers in Physiology(2020)10.3389/fphys.2020.01040

N/A

0DataRank · unranked

14 citations

Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L. Heinzen, Arthur M. Mandel +8 more

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Genetics in Medicine(2020)10.1038/s41436-020-0781-x

N/A

0DataRank · unranked

43 citations

Queenie K.‐G. Tan, Nicholas Stong, Kristen Deak, Allyn McConkie‐Rosell, Marie McDonald +4 more

David B. Goldstein

Indexed papers

Top data-sharing exemplar

Papers