Jonathan A. Bernstein

Also affiliated with Stanford University

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 100%percentile

0Author DataRank

Indexed papers

2in 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 2 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.

The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death

medRxiv(2025)10.1101/2025.10.08.25336895

Top 100%

0DataRank

Top 100%0 citations

Amrita Nagasuri, Vishal Soman, Aryo Garakani, Mona Amin‐Beidokhti, Uma Chandran +17 more

Papers

Driven by 81 papers — median percentile 0. Top paper: “Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers”.

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

Genetics in Medicine(2017)10.1038/gim.2016.88

N/A

15.1DataRank · unranked

329 citations

Harendra Guturu, Jonathan A. Bernstein, Gill Bejerano, Aaron M. Wenger

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

Science Advances(2023)10.1126/sciadv.ade4814

N/A

1.0DataRank · unranked

34 citations

Caitlin Ford, Nathan D. Elrod, Winston Lee, Lauren C. Tang, Kai-Lieh Huang +29 more

Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.01.006

N/A

0.945DataRank · unranked

21 citations

Siddharth Srivastava, Anna K. Prohl, Benoît Scherrer, Kush Kapur, Rajna Filip‐Dhima +16 more

Clinical Interpretation and Implications of Whole-Genome Sequencing

JAMA(2014)10.1001/jama.2014.1717

N/A

0.919DataRank · unranked

456 citations

Megan E. Grove, Cuiping Pan, Benjamin A. Goldstein, Jonathan A. Bernstein, Hassan Chaib +26 more

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

Biomni: A General-Purpose Biomedical AI Agent

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.05.30.656746

N/A

0.700DataRank · unranked

105 citations

Serena Zhang, Hanchen Wang, Yuanhao Qu, Yingzhou Lu, Yusuf Roohani +18 more

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

Human Molecular Genetics(2021)10.1093/hmg/ddab280

N/A

0.637DataRank · unranked

69 citations

Jennifer H. Foss‐Feig, Catalina Betancur, Paige M. Siper, María del Pilar Trelles-Thorne, Danielle Halpern +14 more

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

npj Genomic Medicine(2023)10.1038/s41525-022-00343-8

N/A

0.605DataRank · unranked

18 citations

Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara +95 more

TOWARDS TRANSCRIPTOMICS AS A PRIMARY TOOL FOR RARE DISEASE INVESTIGATION

Molecular Case Studies(2022)10.1101/mcs.a006198

N/A

0.553DataRank · unranked

39 citations

Jonathan A. Bernstein, Matthew T. Wheeler, Stephen B. Montgomery

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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

N/A

0.533DataRank · 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

0.515DataRank · unranked

30 citations

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

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.011

N/A

0.483DataRank · unranked

24 citations

Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard +53 more

Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons

Biological Psychiatry(2020)10.1016/j.biopsych.2020.06.021

N/A

0.477DataRank · unranked

23 citations

Xianglong Zhang, Carolin Purmann, Shining Ma, Anima Shrestha, Kasey Davis +8 more

Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease

Frontiers in Genetics(2022)10.3389/fgene.2022.949422

N/A

0.449DataRank · unranked

19 citations

Meghan C. Halley, Beatriz Anguiano, Liliana Fernández, Jonathan A. Bernstein, Matthew T. Wheeler +2 more

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

Genome Research(2025)10.1101/gr.279323.124

N/A

0.425DataRank · unranked

11 citations

Bohan Ni, Chloe Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner +13 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0.416DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 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

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

medRxiv(2024)10.1101/2024.03.22.24304565

N/A

0.321DataRank · unranked

5 citations

Bohan Ni, Chloe Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner +13 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

0.292DataRank · unranked

6 citations

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

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0.269DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change

American Journal on Intellectual and Developmental Disabilities(2025)10.1352/1944-7558-130.5.344

N/A

0.208DataRank · unranked

3 citations

Audrey Thurm, Tanvi Das, E. Martina Bebin, Jonathan A. Bernstein, Elizabeth Berry‐Kravis +14 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

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

Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway

medRxiv(2025)10.1101/2025.08.19.25333388

N/A

0.104DataRank · unranked

1 citations

Gerhard Hellemann, Irma Gutierrez-Mejia, Dzung C. Nguyen, Joshua Sadik, Veronica I. Gandara +7 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5

N/A

0.104DataRank · unranked

1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Variable clinical severity in TANGO2 deficiency: Case series and literature review

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62543

N/A

0DataRank · unranked

33 citations

Peter Leahy, Tina M. Cowan, Maura Ruzhnikov, Ryan Gates, Liliana Fernández +8 more

Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.02.044

N/A

0DataRank · unranked

33 citations

Diane B. Zastrow, Riley D. Metcalfe, Lisa Gartner, Freia Krause, Craig J. Morton +23 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 more

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100145

N/A

0DataRank · unranked

7 citations

Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman +17 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124

N/A

0DataRank · unranked

72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

medRxiv(2022)10.1101/2022.07.06.22277334

N/A

0DataRank · unranked

0 citations

Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman +10 more

Updated consensus guidelines on the management of Phelan–McDermid syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63312

N/A

0DataRank · unranked

49 citations

Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Latha Soorya, Audrey Thurm +40 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

Candidate variants in TUB are associated with familial tremor

PLoS Genetics(2020)10.1371/journal.pgen.1009010

N/A

0DataRank · unranked

4 citations

Fereshteh Jahanbani, Charles W. Abbott, Hayan Lee, Amin Zia, Shannon Rego +13 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

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

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

N/A

0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 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

P643: Transcriptome sequencing increases yield of Mendelian disease diagnosis

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100708

N/A

0DataRank · unranked

0 citations

Rachel Ungar, Pagé C. Goddard, Jennefer N. Kohler, Chloe Reuter, Shruti Marwaha +4 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

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Impact of genome build on RNA-seq interpretation and diagnostics

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.005

N/A

0DataRank · unranked

13 citations

Pagé C. Goddard, Tanner Jensen, Fabien Degalez, Kevin S. Smith, Christopher Jin +5 more

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101166

N/A

0DataRank · unranked

11 citations

Nicole Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Berrak Uğur +89 more

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Genetics in Medicine(2024)10.1016/j.gim.2024.101115

N/A

0DataRank · unranked

6 citations

Lauren C. Briere, Chloe Reuter, Perman Gochyyev, Maria T. Acosta, David R. Adams +94 more

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63627

N/A

0DataRank · unranked

2 citations

Jennefer Carter, Luca Pannone, David A. Stevenson, Dorsa Moslehi, Serenella Venanzi +5 more

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09541-0

N/A

0DataRank · unranked

7 citations

Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip‐Dhima +13 more

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Genetics in Medicine(2024)10.1016/j.gim.2024.101218

N/A

0DataRank · unranked

4 citations

Kristy Jay, Alden Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +95 more

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.07.010

N/A

0DataRank · unranked

2 citations

Heena Patel, Siddharth Srivastava, Lindsay C. Swanson, Boris Keren, Sandra Whalen +95 more

Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome

Autism Research(2020)10.1002/aur.2299

N/A

0DataRank · unranked

27 citations

Alan Weinberg, Jonathan Templin, Cristan Farmer, Alison Durkin, Jordana Weissman +12 more

Impact of genome build on RNA-seq interpretation and diagnostics

medRxiv(2024)10.1101/2024.01.11.24301165

N/A

0DataRank · unranked

0 citations

Pagé C. Goddard, Tanner Jensen, Fabien Degalez, Kevin S. Smith, Christopher Jin +6 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

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Genetics in Medicine(2024)10.1016/j.gim.2024.101203

N/A

0DataRank · unranked

0 citations

Laura Findley, Weihong Ni, Janet S. Sinsheimer, Francesca Cole, Cecilia Esteves +94 more

Aortic Root Dilation and Genotype Associations in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63872

N/A

0DataRank · unranked

0 citations

Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip‐Dhima, Aisling Quinlan +17 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

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

“Nobody listened to us for years”: Parents' experiences of provider communication in the diagnostic odyssey

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109283

N/A

0DataRank · unranked

4 citations

Sevil Mahfoozi, Devon Bonner, Daphne Oluwaseun Martschenko, Alisha Giri, Charis Tang +4 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.12.004

N/A

0DataRank · unranked

1 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa S. Rajan, Senta Schönnagel +53 more

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369

N/A

0DataRank · unranked

4 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Genetics in Medicine(2020)10.1038/s41436-020-0904-4

N/A

0DataRank · unranked

50 citations

Desirée E.C. Smith, Ellen Crushell, Ralf A. Husain, Gajja S. Salomons, Bader Alhaddad +35 more

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

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

medRxiv(2025)10.1101/2025.01.02.24318941

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon, Gabrielle Lemire +20 more

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

medRxiv(2025)10.1101/2025.08.26.25334179

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Jonathan Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti +17 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

medRxiv(2025)10.1101/2025.03.31.25324695

N/A

0DataRank · unranked

2 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Rajan, Senta Schönnagel +54 more

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33036

N/A

0DataRank · unranked

0 citations

Morgan N Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin +17 more

The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death

medRxiv(2025)10.1101/2025.10.08.25336895

Top 100%

0DataRank

Top 100%0 citations

Amrita Nagasuri, Vishal Soman, Aryo Garakani, Mona Amin‐Beidokhti, Uma Chandran +17 more

RAPSN ‐Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position

Case Reports in Genetics(2025)10.1155/crig/1882021

N/A

0DataRank · unranked

0 citations

Jennefer N. Carter, Elijah Kravets, Matthew T. Wheeler, Jonathan A. Bernstein, Ricardo A. Maselli +3 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

Automated syndrome diagnosis by three-dimensional facial imaging

Genetics in Medicine(2020)10.1038/s41436-020-0845-y

N/A

0DataRank · unranked

106 citations

J. David Aponte, David C. Katz, Jordan J. Bannister, Sheri L. Riccardi, Nick Mahasuwan +33 more

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders(2021)10.1186/s11689-021-09398-7

N/A

0DataRank · unranked

12 citations

Emma Condy, Erin Carmody, Rajna Filip‐Dhima, Kush Kapur, Jonathan A. Bernstein +14 more

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Genetics in Medicine(2021)10.1038/s41436-020-01047-z

N/A

0DataRank · unranked

6 citations

Devon Bonner, K. C. Kent Lloyd, Ala Moshiri, Brandon Willis, Louise Lanoue +23 more

Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing

Nature Biotechnology(2022)10.1038/s41587-022-01221-5

N/A

0DataRank · unranked

121 citations

John E. Gorzynski, Kishwar Shafin, Dianna G. Fisk, Trevor Pesout, Tanner Jensen +24 more

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Annals of the Rheumatic Diseases(2022)10.1136/annrheumdis-2022-222629

N/A

0DataRank · unranked

70 citations

Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani +95 more

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

Science Immunology(2022)10.1126/sciimmunol.abi4611

N/A

0DataRank · unranked

51 citations

Kim S. Robinson, Kenneth Lay, Jasmine C. Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh +24 more

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62619

N/A

0DataRank · unranked

41 citations

Jennifer L. Young, Liliana Fernández, Jennefer N. Kohler, Undiagnosed Diseases Network, Jonathan A. Bernstein +3 more

NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome

Human Molecular Genetics(2022)10.1093/hmg/ddac026

N/A

0DataRank · unranked

31 citations

Hong Zheng, Jill A. Fahrner, June Ho Shin, Andrew J. Gentles, Bradley E. Schaefer +4 more

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.007

N/A

0DataRank · unranked

26 citations

Linda M. Reis, Davut Pehli̇van, Jonathan A. Bernstein, Michael Muriello, Erin Syverson +33 more

Jonathan A. Bernstein

Indexed papers

Top data-sharing exemplar

Papers