Michael E. Talkowski

Also affiliated with Massachusetts General Hospital, Center for Systems Biology

Biochemistry, Genetics and Molecular BiologyNeuroscience

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

37.8Author DataRank

Indexed papers

13in 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 13 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 96 papers — median percentile 91. Top paper: “A structural variation reference for medical and population genetics”.

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

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

Cell(2022)10.1016/j.cell.2022.08.004

Top 3%

6.3DataRank

Top 3%1056 citations

Uday S. Evani, Xuefang Zhao, Anna O. Basile, Haley Abel, Allison A. Regier +37 more

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Science(2021)10.1126/science.abf7117

Top 4%

5.7DataRank

Top 4%812 citations

Peter A. Audano, Qihui Zhu, Bernardo Rodríguez–Martín, David Porubsky, Marc Jan Bonder +60 more

High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.02.06.430068

Top 4%

5.5DataRank

Top 4%260 citations

Uday S. Evani, Xuefang Zhao, Anna O. Basile, Haley Abel, Allison A. Regier +16 more

A cross-disorder dosage sensitivity map of the human genome

Cell(2022)10.1016/j.cell.2022.06.036

Top 5%

4.7DataRank

Top 5%367 citations

Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella +46 more

A harmonized public resource of deeply sequenced diverse human genomes

Genome Research(2024)10.1101/gr.278378.123

Top 8%

2.6DataRank

Top 8%130 citations

Mary T. Yohannes, Lethukuthula L. Nkambule, Xuefang Zhao, Julia K. Goodrich, Heesu Ally Kim +16 more

Topologically associating domain boundaries are required for normal genome function

Communications Biology(2023)10.1038/s42003-023-04819-w

N/A

2.5DataRank · unranked

156 citations

Iros Barozzi, Yiwen Zhu, Rong Hu, Yanxiao Zhang, Bin Li +24 more

An open resource of structural variation for medical and population genetics

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/578674

Top 9%

2.2DataRank

Top 9%44 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +37 more

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Nature Genetics(2020)10.1038/s41588-020-0707-1

N/A

2.0DataRank · unranked

35 citations

Onuralp Söylemez, Aysegül Ozanturk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis +16 more

A cross-disorder dosage sensitivity map of the human genome

medRxiv(2021)10.1101/2021.01.26.21250098

N/A

2.0DataRank · unranked

54 citations

Joseph Glessner, Eleonora Porcu, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Georgios Kellaris +28 more

Functional annotation of rare structural variation in the human brain

Nature Communications(2020)10.1038/s41467-020-16736-1

N/A

1.7DataRank · unranked

54 citations

Xuefang Zhao, Mary Lauren Benton, Thanneer M. Perumal, Ryan L. Collins, Gabriel E. Hoffman +65 more

A harmonized public resource of deeply sequenced diverse human genomes

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.23.525248

Top 13%

1.6DataRank

Top 13%48 citations

Mary T. Yohannes, Lethukuthula L. Nkambule, Xuefang Zhao, Julia K. Goodrich, Heesu Ally Kim +16 more

The mutational constraint spectrum quantified from variation in 141,456 humans

Nature(2020)10.1038/s41586-020-2308-7

N/A

1.4DataRank · unranked

9958 citations

Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang +187 more

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Nature Communications(2023)10.1038/s41467-023-39539-6

N/A

1.2DataRank · unranked

56 citations

David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian +94 more

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

The Journal of Experimental Medicine(2021)10.1084/jem.20210444

N/A

1.1DataRank · unranked

32 citations

Jeffrey M. Verboon, Leif S. Ludwig, Susan Black, Wendy Luo, Kopal Garg +13 more

Complex genetic variation in nearly complete human genomes

Nature(2025)10.1038/s41586-025-09140-6

Top 19%

1.1DataRank

Top 19%83 citations

Peter Ebert, Peter A. Audano, Mark Loftus, David Porubsky, Feyza Yilmaz +62 more

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Nature(2012)10.1038/nature11091

N/A

0.911DataRank · unranked

434 citations

Jason Willer, Michael E. Talkowski, Edwin C. Oh, Yu Taniguchi, Sébastien Jacquemont +10 more

Chromatin alternates between A and B compartments at kilobase scale for subgenic organization

Nature Communications(2023)10.1038/s41467-023-38429-1

N/A

0.759DataRank · unranked

157 citations

Huiya Gu, Moshe Olshansky, Ailun Wang, Irene Farabella, Yossi Eliaz +25 more

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

eLife(2020)10.7554/elife.55911

N/A

0.620DataRank · unranked

21 citations

Serkan Erdin, Marissa A Andrew, Jason St. Claire, Melissa Shaughnessey, Leroy Hubert +9 more

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.06.631535

Top 41%

0.461DataRank

Top 41%11 citations

Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd +30 more

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

bioRxiv (Cold Spring Harbor Laboratory)(2018)10.1101/362707

N/A

0.403DataRank · unranked

4 citations

Onuralp Söylemez, Aysegül Ozanturk, Sebastian Akle, Irwin Jungreis, Jean Muller +16 more

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

Nature Communications(2024)10.1038/s41467-024-52463-7

N/A

0.389DataRank · unranked

9 citations

Lauren J. Ayers, Michael Kosicki, Wai‐Man Chan, Lydia Fozo, Brandon M. Pratt +22 more

A comprehensive catalog of 3D genome organization in diverse human genomes facilitates understanding of the impact of structural variation on chromatin structure

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.15.540856

Top 49%

0.360DataRank

Top 49%5 citations

Marc Jan Bonder, Sabriya A. Syed, HGSVC Functional Analysis Working Group, Michael C. Zody, Mark J. P. Chaisson +7 more

De novo assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.12.16.423102

Top 53%

0.322DataRank

Top 53%5 citations

Peter A. Audano, Qihui Zhu, Bernardo Rodríguez–Martín, David Porubsky, Marc Jan Bonder +58 more

Fine-mapping of nuclear compartments using ultra-deep Hi-C shows that active promoter and enhancer elements localize in the active A compartment even when adjacent sequences do not

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.03.462599

N/A

0DataRank · unranked

29 citations

Hannah L. Harris, Moshe Olshansky, Yossi Eliaz, Akshay Krishna, Achyuth Kalluchi +20 more

Topologically Associating Domain Boundaries are Commonly Required for Normal Genome Function

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.05.06.443037

N/A

0DataRank · unranked

10 citations

Iros Barozzi, Yiwen Zhu, Rong Hu, Yanxiao Zhang, Bin Li +20 more

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.04.16.440179

N/A

0DataRank · unranked

1 citations

Dadi Gao, Emily M. Logan, Monica Salani, Aram J. Krauson, Anil Chekuri +9 more

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.06.22.449452

N/A

0DataRank · unranked

0 citations

Rachita Yadav, Shivangi Shah, William T. Hendriks, Serkan Erdin, Dadi Gao +9 more

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.09.015

N/A

0DataRank · unranked

30 citations

Rachita Yadav, Eva D’haene, Philip M. Boone, Serkan Erdin, Dadi Gao +18 more

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

Nature Communications(2022)10.1038/s41467-022-30968-3

N/A

0DataRank · unranked

27 citations

Yingleong Chan, Pepper Dawes, Xiaoge Guo, Serkan Erdin, Derek J.C. Tai +15 more

CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing

Nucleic Acids Research(2022)10.1093/nar/gkac1134

N/A

0DataRank · unranked

26 citations

Michele Arnoldi, Takshashila Tripathi, Miguel Pellegrini, Samuele Maturi, Serkan Erdin +16 more

A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene

European Journal of Human Genetics(2022)10.1038/s41431-022-01137-3

N/A

0DataRank · unranked

18 citations

Jill A. Madden, Jasmine Lin, Gerard T. Berry, Monica H. Wojcik, Xuefang Zhao +5 more

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.08.25.504851

N/A

0DataRank · unranked

13 citations

Jack Fu, Samuel K. Lee, Andrey N. Smirnov, Laura D. Gauthier, Mark Walker +9 more

Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16p

medRxiv(2022)10.1101/2022.03.23.22272826

N/A

0DataRank · unranked

2 citations

Emi Ling, Serkan Erdin, Derek J.C. Tai, Rachita Yadav, Jakob Grove +15 more

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.02.15.480098

N/A

0DataRank · unranked

0 citations

Rachita Yadav, Eva D’haene, Philip M. Boone, Serkan Erdin, Dadi Gao +15 more

Convergent coexpression of autism associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies

medRxiv(2022)10.1101/2022.02.28.22271620

N/A

0DataRank · unranked

0 citations

Mariana Moysés‐Oliveira, Celine E. de Esch, Riya Bhavsar, Xander Nuttle, Aiqun Li +14 more

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

Nature Genetics(2023)10.1038/s41588-023-01449-0

N/A

0DataRank · unranked

121 citations

Jack Fu, Samuel K. Lee, Andrey N. Smirnov, Laura D. Gauthier, Mark Walker +10 more

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.07.010

N/A

0DataRank · unranked

54 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

Genome‐Wide Analysis of Structural Variants in Parkinson Disease

Annals of Neurology(2023)10.1002/ana.26608

N/A

0DataRank · unranked

37 citations

Jinhui Ding, Pilar Álvarez Jerez, Anastasia Illarionova, Kristin Levine, Francis P. Grenn +35 more

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Cell Genomics(2023)10.1016/j.xgen.2023.100316

N/A

0DataRank · unranked

32 citations

Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon +88 more

Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies

Cell Genomics(2023)10.1016/j.xgen.2023.100277

N/A

0DataRank · unranked

24 citations

Mariana Moysés‐Oliveira, Celine E.F. De Esch, Riya Bhavsar, Xander Nuttle, Aiqun Li +14 more

Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries

Cell Reports Methods(2023)10.1016/j.crmeth.2023.100672

N/A

0DataRank · unranked

4 citations

Nicholas D. Burt, Benjamin B Currall, Mariana Moysés‐Oliveira, Kiana Mohajeri, Riya Bhavsar +6 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

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

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

N/A

0DataRank · unranked

5 citations

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

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269

N/A

0DataRank · unranked

1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

A marker chromosome in psychosis identifies glycine decarboxylase (GLDC) as a novel regulator of neuronal and synaptic function in the hippocampus

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.29.542745

N/A

0DataRank · unranked

0 citations

Yan Li, Petr Unichenko, Jessica Feria Pliego, Rachita Yadav, Jing Liu +16 more

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.09.07.555775

N/A

0DataRank · unranked

0 citations

Philip M. Boone, Yongqing Huang, Kiran Garimella, Kar‐Tong Tan, Bianca Russell +13 more

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.09.28.559870

N/A

0DataRank · unranked

0 citations

Elisabetta Morini, Monica Salani, Emily M. Logan, Emily Kirchner, Jessica Bolduc +7 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Utility of long-read sequencing for All of Us

Nature Communications(2024)10.1038/s41467-024-44804-3

N/A

0DataRank · unranked

106 citations

Yongqing Huang, Kiran Garimella, Peter A. Audano, W. Wan, Nripesh Prasad +9 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0DataRank · unranked

24 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.006

N/A

0DataRank · unranked

23 citations

Philip M. Boone, Yongqing Huang, Kiran Garimella, Kar‐Tong Tan, Bianca Russell +17 more

An increased copy number of glycine decarboxylase (GLDC) associated with psychosis reduces extracellular glycine and impairs NMDA receptor function

Molecular Psychiatry(2024)10.1038/s41380-024-02711-5

N/A

0DataRank · unranked

12 citations

Yan Li, Petr Unichenko, Jessica Abigail Feria Pliego, Rachita Yadav, Jing Liu +18 more

Impact and characterization of serial structural variations across humans and great apes

Nature Communications(2024)10.1038/s41467-024-52027-9

N/A

0DataRank · unranked

12 citations

Tobias Rausch, Michael Jendrusch, Hufsah Ashraf, Peter A. Audano, Ola Austine +49 more

Improving prenatal diagnosis through standards and aggregation

Prenatal Diagnosis(2024)10.1002/pd.6522

N/A

0DataRank · unranked

10 citations

Pilar Cacheiro, Julius O.B. Jacobsen, Jessica L. Giordano, Harrison Brand, Ronald J. Wapner +4 more

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

Scientific Reports(2024)10.1038/s41598-023-51137-6

N/A

0DataRank · unranked

2 citations

Elisabetta Morini, Monica Salani, Emily M. Logan, Emily Kirchner, Jessica Bolduc +8 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273

N/A

0DataRank · unranked

3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more

Activation of the imprinted Prader-Willi Syndrome locus by CRISPR-based epigenome editing

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.03.583177

N/A

0DataRank · unranked

3 citations

Joshua B. Black, Sean R. McCutcheon, Alejandro Barrera, Daniel J. Morone, Xander Nuttle +6 more

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

Genome Research(2024)10.1101/gr.279419.124

N/A

0DataRank · unranked

2 citations

Marc Jan Bonder, Sabriya A. Syed, Matthew Jensen, HGSVC Functional Analysis Working Group, Mark Gerstein +9 more

Rare germline structural variants increase risk for pediatric solid tumors

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.04.27.591484

N/A

0DataRank · unranked

1 citations

Ryan L. Collins, Jett Crowdis, Amanda Garza, Jill K. Jones, Mark Walker +13 more

Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing

Cell Genomics(2025)10.1016/j.xgen.2025.100770

N/A

0DataRank · unranked

17 citations

Joshua B. Black, Sean R. McCutcheon, Alejandro Barrera, Shanté S. Berry, Daniel J. Morone +7 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

Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related disease

Nature Immunology(2025)10.1038/s41590-025-02299-0

N/A

0DataRank · unranked

11 citations

Emily H. Broersma, Anna S. Warden, Cristina Mora, Claudia Z. Han, Zahara Keulen +16 more

Loss of CFHR5 function reduces the risk for age-related macular degeneration

Nature Communications(2025)10.1038/s41467-025-61193-3

N/A

0DataRank · unranked

6 citations

Stephanie Loomis, Eija Nissilä, Thomas W. Soare, Tobias Rausch, Zhili Zheng +16 more

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.12.002

N/A

0DataRank · unranked

5 citations

Madison Hincher, Kevin Correia, Tammy Gillis, A Nishiyama, Ellen B. Penney +21 more

Whole-blood transcriptomic analysis reveals preoperative complement inhibitor deficiencies linked to postoperative delirium

Molecular Psychiatry(2025)10.1038/s41380-025-03063-4

N/A

0DataRank · unranked

4 citations

Jiayi Kang, Haobo Li, Serkan Erdin, Matthew J. Smith, Ariel Mueller +11 more

Search for a genetic cause of variably protease-sensitive prionopathy

PLoS Pathogens(2025)10.1371/journal.ppat.1013343

N/A

0DataRank · unranked

2 citations

Keisi Kotobelli, Stacey Hall, Michael E. Talkowski, Anne H. O’Donnell-Luria, Sonia M. Vallabh +3 more

Structural and transduction patterns of human-specific polymorphic SVA insertions

Mobile DNA(2025)10.1186/s13100-025-00373-w

N/A

0DataRank · unranked

1 citations

Mark Loftus, Emily C. Golba, Haley Abel, Hufsah Ashraf, Peter A. Audano +64 more

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations

medRxiv(2025)10.1101/2024.12.27.24319460

N/A

0DataRank · unranked

3 citations

Seulgi Jung, F. Kyle Satterstrom, Jack Fu, Tess Levy, Laura G Sloofman +49 more

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.05.14.653432

N/A

0DataRank · unranked

1 citations

Madison Hincher, Kevin Correia, Tammy Gillis, Ayumi Nishiyama, Ellen B. Penney +21 more

Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism

medRxiv(2025)10.1101/2025.10.10.25336355

N/A

0DataRank · unranked

1 citations

Christine A. Vaine, Aloysius Domingo, Sheldon C. Reed, Shivangi Shah, Dadi Gao +23 more

De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism

Genetics in Medicine(2025)10.1016/j.gim.2025.101623

N/A

0DataRank · unranked

0 citations

Miranda Tompkins, Hannah Bow, Jessica Kearney, Maleeha Akram, Harrison Brand +15 more

Whole exome sequencing analyses reveal gene–microbiota interactions in the context of IBD

Gut(2020)10.1136/gutjnl-2019-319706

N/A

0DataRank · unranked

55 citations

Arnau Vich Vila, Ranko Gaćeša, Valerie Collij, Christine Stevens, Jack Fu +17 more

TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling

Molecular Autism(2020)10.1186/s13229-019-0311-3

N/A

0DataRank · unranked

50 citations

Vilas Wagh, Surya A. Reis, Serkan Erdin, Roberta L. Beauchamp, Ghalib Shaikh +6 more

New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders

Current Opinion in Genetics & Development(2020)10.1016/j.gde.2020.07.001

N/A

0DataRank · unranked

49 citations

Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Mariana Moysés‐Oliveira

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons

Molecular Autism(2020)10.1186/s13229-020-00354-1

N/A

0DataRank · unranked

21 citations

Tatsiana Aneichyk, Serkan Erdin, Derek J.C. Tai, Celine de Esch, Parisa Razaz +10 more

Age dependent association of inbreeding with risk for schizophrenia in Egypt

Schizophrenia Research(2020)10.1016/j.schres.2019.10.039

N/A

0DataRank · unranked

5 citations

Hader Mansour, Ibtihal Ibrahim, Lambertus Klei, Warda Fathi, Joel Wood +19 more

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

UNC Libraries(2020)10.17615/acnn-yv48

N/A

0DataRank · unranked

4 citations

Susan K. Sell, Cathy A. Stevens, Deborah Terespolsky, S. Noyce Ryan, Zheng Fan +27 more

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.12.248526

N/A

0DataRank · unranked

12 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.02.03.932103

N/A

0DataRank · unranked

7 citations

Elisabetta Morini, Monica Salani, Aram J. Krauson, Ashok Ragavendran, Serkan Erdin +15 more

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0DataRank · unranked

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