Suzanne M. Leal

Columbia University Irving Medical Center

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 2%percentile

4.5Author 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.

Frequency and Complexity of De Novo Structural Mutation in Autism

The American Journal of Human Genetics(2016)10.1016/j.ajhg.2016.02.018

Top 6%

3.6DataRank

Top 6%112 citations

Danny Antaki, Madhusudan Gujral, Amina Noor, Gabriel Rosanio, Timothy R. Chapman +34 more

Papers

Driven by 37 papers — median percentile 85. Top paper: “Frequency and Complexity of De Novo Structural Mutation in Autism”.

Frequency and Complexity of De Novo Structural Mutation in Autism

The American Journal of Human Genetics(2016)10.1016/j.ajhg.2016.02.018

Top 6%

3.6DataRank

Top 6%112 citations

Danny Antaki, Madhusudan Gujral, Amina Noor, Gabriel Rosanio, Timothy R. Chapman +34 more

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The American Journal of Human Genetics(2015)10.1016/j.ajhg.2015.06.009

N/A

0.980DataRank · unranked

687 citations

Kati J. Buckingham, Shalini N. Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D. Smith +46 more

Large-scale meta–genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types

JNCI Cancer Spectrum(2023)10.1093/jncics/pkad088

Top 24%

0.843DataRank

Top 24%19 citations

Miguel E. Aguado‐Barrera, L.M.H. Schack, Leila Dorling, Tim Rattay, Laura Fachal +79 more

Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.016

N/A

0.612DataRank · unranked

58 citations

Haocheng Lu, Whitney Hornsby, Bradley Crone, Gao T. Wang, Dongchuan Guo +35 more

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Genetics in Medicine(2022)10.1016/j.gim.2022.02.013

N/A

0.542DataRank · unranked

36 citations

Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Sadegheh Haghshenas +95 more

Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology

EBioMedicine(2022)10.1016/j.ebiom.2022.104290

N/A

0.520DataRank · unranked

31 citations

Yizhe Gao, Gao T. Wang, Nora Hernández, Allison E. Ashley‐Koch, Joseph Jankovic +5 more

Variants of LRP2 , encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

Clinical Genetics(2023)10.1111/cge.14312

N/A

0.477DataRank · unranked

23 citations

Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy Turriff, Keith Pelstring +22 more

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

Communications Biology(2022)10.1038/s42003-022-03326-8

N/A

0.464DataRank · unranked

21 citations

Samuel Mawuli Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, Edmond Wonkam‐Tingang, Kevin Esoh +17 more

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

European Journal of Human Genetics(2021)10.1038/s41431-021-00913-x

N/A

0.416DataRank · unranked

15 citations

Isabelle Schrauwen, Sakina Rehman, Khurram Liaqat, Anushree Acharya, Arnaud P. J. Giese +19 more

Multi-omic studies on missense PLG variants in families with otitis media

Scientific Reports(2020)10.1038/s41598-020-70498-w

N/A

0.330DataRank · unranked

8 citations

Lena Hafrén, Christina L. Elling, Erin E. Baschal, Ani Manichaikul, Harold S. Pine +30 more

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

Journal of Human Genetics(2021)10.1038/s10038-021-00922-0

N/A

0.312DataRank · unranked

7 citations

Syed Irfan Raza, Muhammad Zeeshan Anwar, Thashi Bharadwaj, Khurram Liaqat, Muhammad Akram Shahzad Khokhar +9 more

Syntaxin 4 is essential for hearing in human and zebrafish

Human Molecular Genetics(2022)10.1093/hmg/ddac257

N/A

0.208DataRank · unranked

3 citations

Amama Ghaffar, Thashi Bharadwaj, Khadim Shah, Sakina Rehman, Anushree Acharya +9 more

A Novel Variant in VPS13B Underlying Cohen Syndrome

BioMed Research International(2023)10.1155/2023/9993801

N/A

0.165DataRank · unranked

2 citations

Anushree Acharya, Thashi Bharadwaj, Suzanne M. Leal, Abdul Khaliq, Asif Mir +2 more

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100391

N/A

0.104DataRank · unranked

1 citations

Isabelle Schrauwen, Oumou Traoré, Salia Bamba, Elvis Twumasi Aboagye, Anushree Acharya +14 more

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

UNC Libraries(2020)10.17615/003k-2b61

N/A

0DataRank · unranked

2 citations

Cristen J. Willer, Jennifer A. Brody, Eric Boerwinkle, Joshua C. Bis, Jeffery Haessler +27 more

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

Genes(2020)10.3390/genes11111249

N/A

0DataRank · unranked

20 citations

Isabelle Schrauwen, Kevin Esoh, Thashi Bharadwaj, Liz M. Nouel‐Saied, Anushree Acharya +6 more

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

BMC Medical Genomics(2022)10.1186/s12920-022-01391-w

N/A

0DataRank · unranked

5 citations

Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin +6 more

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.1866

N/A

0DataRank · unranked

3 citations

Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari‐Tiri +5 more

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2019.12.007

N/A

0DataRank · unranked

114 citations

Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar +27 more

Issue Information

Human Mutation(2018)10.1002/humu.23568

N/A

0DataRank · unranked

0 citations

R. Donald Harvey, Tracy Dudding‐Byth, Liliana Catherine Patiño, Isabelle Beau, Adrien Morel +135 more

Variants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population

Frontiers in Genetics(2023)10.3389/fgene.2023.1129389

N/A

0DataRank · unranked

6 citations

Megan E. Cahill, Diana M. Cornejo-Sanchez, Yining Li, Zihan Dong, Tabassum Fabiha +4 more

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort

Brain Communications(2024)10.1093/braincomms/fcae142

N/A

0DataRank · unranked

1 citations

Ritva Paetau, Yasmin Rajendran, Anushree Acharya, Thashi Bharadwaj, Suzanne M. Leal +4 more

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

BMC Medical Genomics(2024)10.1186/s12920-024-02060-w

N/A

0DataRank · unranked

1 citations

Anushree Acharya, Fati Ullah Khan, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen +3 more

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

medRxiv(2024)10.1101/2024.10.10.24315152

N/A

0DataRank · unranked

2 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +26 more

Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants

UNC Libraries(2024)10.17615/xgme-w279

N/A

0DataRank · unranked

0 citations

Meher Preethi Boorgula, Alison E. Fohner, S.S. Rich, Stella Aslibekyan, Merry‐Lynn McDonald +57 more

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.005

N/A

0DataRank · unranked

7 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +41 more

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics(2025)10.1111/cge.14765

N/A

0DataRank · unranked

3 citations

Anushree Acharya, Noluthando Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza +6 more

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda

BMC Medical Genomics(2025)10.1186/s12920-025-02153-0

N/A

0DataRank · unranked

1 citations

Abdoulaye Yalcouyé, Elvis Twumasi Aboagye, Lettilia Xhakaza, Kalinka Popel, Norbert Dukuze +7 more

Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Nature Genetics(2025)10.1038/s41588-025-02332-w

N/A

0DataRank · unranked

1 citations

Inna A. Belyantseva, Arnaud P. J. Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri +26 more

Whole Genome Sequencing of Pedigrees With High Density of Substance Use and Psychiatric Disorders: A Meeting Report

Genes Brain & Behavior(2025)10.1111/gbb.70017

N/A

0DataRank · unranked

0 citations

Howard J. Edenberg, Aiden Corvin, Thorgeir E. Thorgeirsson, Jennifer E. Below, David Goldman +8 more

Human Genome-Wide Association and Mouse Knockout Approaches Identify Platelet Supervillin as an Inhibitor of Thrombus Formation Under Shear Stress

UNC Libraries(2020)10.17615/b6de-6048

N/A

0DataRank · unranked

0 citations

Wolfgang Bergmeier, Altaf A. Kondkar, Ying Jin, Elizabeth J. Luna, Moritz Stolla +14 more

Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss

International Journal of Molecular Sciences(2025)10.3390/ijms26073337

N/A

0DataRank · unranked

0 citations

Samuel Mawuli Adadey, Leonardo Alves de Souza Rios, Kevin Esoh, Edmond Wonkam‐Tingang, Lettilia Xhakaza +9 more

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.11.003

N/A

0DataRank · unranked

34 citations

Stéphanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca +35 more

A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

Experimental Biology and Medicine(2021)10.1177/1535370221999746

N/A

0DataRank · unranked

14 citations

Isabelle Schrauwen, Kevin Esoh, Thashi Bharadwaj, Liz M. Nouel‐Saied, Anushree Acharya +4 more

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

European Journal of Human Genetics(2021)10.1038/s41431-021-00984-w

N/A

0DataRank · unranked

16 citations

Rabia Faridi, Parna Chattaraj, Rizwan Yousaf, Risa Tona, Samuel Okorie +10 more

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

Journal of Human Genetics(2021)10.1038/s10038-021-00954-6

N/A

0DataRank · unranked

14 citations

Isabelle Schrauwen, Elvis Twumasi Aboagye, Thashi Bharadwaj, Kevin Esoh, Sulman Basit +10 more

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

Genes(2021)10.3390/genes12111765

N/A

0DataRank · unranked

9 citations

Isabelle Schrauwen, Leonardo Alves de Souza Rios, Shaheen Mowla, Cedrik Tekendo‐Ngongang, Kalinka Popel +11 more

Suzanne M. Leal

Indexed papers

Top data-sharing exemplar

Papers