Seth Berger

Also affiliated with National Hospital, Ambry Genetics (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 2%percentile

2.3Author 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.

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

Circulation Genomic and Precision Medicine(2021)10.1161/circgen.120.003108

Top 20%

1.0DataRank

Top 20%26 citations

Adebowale Adeyemo, Hanhan Liu, Ogochukwu Sokunbi, Nnenna Kalu, Ariel F Martinez +10 more

Papers

Driven by 26 papers — median percentile 77. Top paper: “Beyond the exome: What’s next in diagnostic testing for Mendelian conditions”.

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

2.2DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

Circulation Genomic and Precision Medicine(2021)10.1161/circgen.120.003108

Top 20%

1.0DataRank

Top 20%26 citations

Adebowale Adeyemo, Hanhan Liu, Ogochukwu Sokunbi, Nnenna Kalu, Ariel F Martinez +10 more

A library of induced pluripotent stem cells from clinically well-characterized, diverse healthy human individuals

Stem Cell Reports(2021)10.1016/j.stemcr.2021.10.005

Top 23%

0.890DataRank

Top 23%30 citations

Priyanka Dhanan, Bin Hu, Arjun S. Yadaw, Teeya Raghunandan, David M. Gonzalez +30 more

Multiscale mapping of transcriptomic signatures for cardiotoxic drugs

Nature Communications(2024)10.1038/s41467-024-52145-4

N/A

0.413DataRank · unranked

11 citations

Yuguang Xiong, Mustafa M. Siddiq, Priyanka Dhanan, Bin Hu, Bhavana Shewale +20 more

The Brain Gene Registry: a data snapshot

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09530-3

Top 48%

0.373DataRank

Top 48%11 citations

Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta +58 more

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

arXiv (Cornell University)(2023)10.48550/arxiv.2301.07363

N/A

0.269DataRank · unranked

5 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +19 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Genetics in Medicine(2025)10.1016/j.gim.2025.101574

N/A

0.269DataRank · unranked

5 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.001

N/A

0.241DataRank · unranked

4 citations

Elias Oxman, Hieu D. Hoang, Wu‐Lin Charng, Tanvitha Kotla, Weimin Yuan +49 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

medRxiv(2024)10.1101/2024.12.22.24319370

N/A

0.104DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +30 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

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.05.579012

N/A

0DataRank · unranked

3 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +6 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

medRxiv(2024)10.1101/2024.12.21.24318325

N/A

0DataRank · unranked

3 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.002

N/A

0DataRank · unranked

42 citations

Sarah L. Stenton, Seth Berger, Paolo Canigiula, Brandy McNulty, Ivo Violich +18 more

GREGoR: accelerating genomics for rare diseases

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

N/A

0DataRank · unranked

15 citations

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

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.004

N/A

0DataRank · unranked

1 citations

Farid Ullah, Zachary A Yahiku, Sheraz Jamal Khan, Sri Varsha Kodiparthi, Georgios Kellaris +22 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100441

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +31 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

Identification of de novo variants from parent-proband duos via long-read sequencing

medRxiv(2025)10.1101/2025.02.24.25322424

N/A

0DataRank · unranked

0 citations

Emmanuèle C. Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow, Primo Baybayan +12 more

Multiscale mapping of transcriptomic signatures for cardiotoxic drugs

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.11.02.466774

N/A

0DataRank · unranked

2 citations

Yuguang Xiong, Priyanka Dhanan, Bin Hu, Arjun S. Yadaw, Gomathi Jayaraman +17 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

0DataRank · unranked

24 citations

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

Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant

Journal of the Endocrine Society(2022)10.1210/jendso/bvac127

N/A

0DataRank · unranked

10 citations

Vipula Kolli, Melissa Andrew, Seth Berger, Tricia Bhatti, Alison M. Boyce +11 more

Using a chat-based informed consent tool in large-scale genomic research

Journal of the American Medical Informatics Association(2023)10.1093/jamia/ocad181

N/A

0DataRank · unranked

20 citations

Jonathan LoTempio, Erica D. Smith, E. Hallie Andrew, Glòria Mas Martín, Amanda Kahn-Kirby +8 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Brain(2023)10.1093/brain/awad124

N/A

0DataRank · unranked

13 citations

Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak +24 more

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Genetics in Medicine(2024)10.1016/j.gim.2024.101199

N/A

0DataRank · unranked

14 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +89 more

Secondary bone marrow graft loss after third-party virus-specific T cell infusion: Case report of a rare complication

Nature Communications(2024)10.1038/s41467-024-47056-3

N/A

0DataRank · unranked

6 citations

Stefan Schattgen, Shanmuganathan Chandrakasan, E. Kaitlynn Allen, Mariah Jensen-Wachspress, Christopher A. Lazarski +12 more

Seth Berger

Indexed papers

Top data-sharing exemplar

Papers