🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

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Authors
Wendy K. Chung

Wendy K. Chung

Boston Children's Hospital

ORCID: 0000-0003-3438-5685

Also affiliated with Harvard University

NeuroscienceMedicine

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

4.0Author DataRank

Indexed papers

17in 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 17 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 →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2203491119

Top 14%

1.5DataRank

Top 14%73 citations

Chang N. Kim, Trygve E. Bakken, Madelyn A. Gillentine, Barbara Henning, Yafei Mao +94 more

Papers

Driven by 246 papers — median percentile 37. Top paper: “ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)”.

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2021)10.1038/s41436-021-01172-3

N/A

13.5DataRank · unranked

563 citations

Kristy Lee, Wendy K. Chung, Allan Gordon, Gail E. Herman, Teri E. Klein +13 more

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2021)10.1038/s41436-021-01171-4

N/A

9.7DataRank · unranked

266 citations

Kristy Lee, Allan Gordon, Laura M. Amendola, Kathy Adelman, Sherri J. Bale +13 more

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

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

Nature Medicine(2024)10.1038/s41591-024-02796-z

N/A

4.8DataRank · unranked

196 citations

Leah C. Kottyan, Christopher Kachulis, Noura S. Abul‐Husn, Joshua Arias, Gillian M. Belbin +73 more

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period

The Lancet Diabetes & Endocrinology(2022)10.1016/s2213-8587(22)00277-7

N/A

4.0DataRank · unranked

188 citations

Wendy K. Chung, Hélène Dollfus, Robert Haws, Gabriel Ángel Martos‐Moreno, Christine Poitou +7 more

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Genetics in Medicine(2023)10.1016/j.gim.2023.100006

N/A

2.6DataRank · unranked

121 citations

Aimee Allworth, Harris T. Bland, Pedro J. Caraballo, Rex L. Chisholm, Ellen Wright Clayton +95 more

Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease

Cell Reports(2017)10.1016/j.celrep.2017.01.035

N/A

2.0DataRank · unranked

53 citations

Nadia K. Litterman, Erika M. Norabuena, Jesse L. Mull, Maria José Galazo, Chicheng Sun +9 more

Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2021)10.1038/s41436-021-01278-8

N/A

1.6DataRank · unranked

29 citations

Kristy Lee, Wendy K. Chung, Allan Gordon, Gail E. Herman, Teri E. Klein +13 more

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2203491119

Top 14%

1.5DataRank

Top 14%73 citations

Chang N. Kim, Trygve E. Bakken, Madelyn A. Gillentine, Barbara Henning, Yafei Mao +94 more

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

eLife(2020)10.7554/elife.53278

N/A

1.4DataRank · unranked

63 citations

Lauren K. Wasson, Jon A. L. Willcox, Sarah U. Morton, Joshua M. Gorham, Daniel M. DeLaughter +22 more

Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study

Circulation(2021)10.1161/circulationaha.121.055562

N/A

1.2DataRank · unranked

49 citations

Giovanni Davogustto, Christian M. Shaffer, Carlos G. Vanoye, Reshma R. Desai, Eric Farber‐Eger +46 more

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

JACC Basic to Translational Science(2020)10.1016/j.jacbts.2020.01.012

N/A

1.1DataRank · unranked

28 citations

Andrew D. Rouillard, Nicolas Fernandez, Zichen Wang, Alexander Lachmann, Sunita S. Shankaran +21 more

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Genetics in Medicine(2021)10.1038/s41436-021-01198-7

N/A

1.1DataRank · unranked

40 citations

Alexandra J. van den Broek, Julien A M Vos, Daniel R. Barnes, Julian Adlard, Irene L. Andrulis +95 more

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

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Nature Genetics(2020)10.1038/s41588-020-0609-2

N/A

0.954DataRank · unranked

579 citations

Thomas U. Ahearn, Julie Lecarpentier, Daniel R. Barnes, Jonathan Beesley, Guanghao Qi +95 more

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308

N/A

0.921DataRank · unranked

20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2023)10.1016/j.gim.2023.100866

N/A

0.911DataRank · unranked

433 citations

Kristy Lee, Noura S. Abul‐Husn, Laura M. Amendola, Kyle B. Brothers, Wendy K. Chung +9 more

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Journal of Clinical Oncology(2022)10.1200/jco.21.02112

N/A

0.851DataRank · unranked

290 citations

Valentina Silvestri, Goska Leslie, Timothy R. Rebbeck, Susan L. Neuhausen, John L. Hopper +95 more

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Human Mutation(2015)10.1002/humu.22904

N/A

0.817DataRank · unranked

231 citations

Laura Southgate, Christina A. Eichstaedt, Micheala A. Aldred, Eric D. Austin, D. Hunter Best +17 more

Sleep-Related Hypoxia, Right Ventricular Dysfunction, and Survival in Patients With Group 1 Pulmonary Arterial Hypertension

Journal of the American College of Cardiology(2023)10.1016/j.jacc.2023.09.806

N/A

0.817DataRank · unranked

27 citations

Nicholas S. Hill, Lu Wang, Erika B. Rosenzweig, Aparna Bhat, Serpil C. Erzurum +88 more

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Nature Communications(2020)10.1038/s41467-020-18723-y

N/A

0.808DataRank · unranked

218 citations

Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe +95 more

Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD)

Diabetologia(2020)10.1007/s00125-020-05181-w

N/A

0.798DataRank · unranked

203 citations

Karel Erion, José C. Florez, Andrew T. Hattersley, Marie‐France Hivert, Christine G. Lee +10 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0.789DataRank · unranked

192 citations

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

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Nature Genetics(2020)10.1038/s41588-019-0537-1

N/A

0.787DataRank · unranked

189 citations

Laura Fachal, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators +95 more

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Nature Genetics(2020)10.1038/s41588-020-0652-z

N/A

0.779DataRank · unranked

179 citations

Sarah U. Morton, Seong Won Kim, Alexander Kitaygorodsky, Lauren K. Wasson, Kathleen Chen +30 more

Genome-wide polygenic score to predict chronic kidney disease across ancestries

Nature Medicine(2022)10.1038/s41591-022-01869-1

N/A

0.764DataRank · unranked

162 citations

Michael C. Turchin, Amit Patki, Vinodh Srinivasasainagendra, Ning Shang, Rajiv Nadukuru +34 more

Recent ultra-rare inherited variants implicate new autism candidate risk genes

Nature Genetics(2021)10.1038/s41588-021-00899-8

N/A

0.749DataRank · unranked

146 citations

Tychele N. Turner, Shwetha C. Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang +38 more

Predicting functional effect of missense variants using graph attention neural networks

Nature Machine Intelligence(2022)10.1038/s42256-022-00561-w

N/A

0.688DataRank · unranked

97 citations

Michelle S. Xu, Xiao Fan, Wendy K. Chung, Yufeng Shen, Haicang Zhang

Phenotypic effects of genetic variants associated with autism

Nature Medicine(2023)10.1038/s41591-023-02408-2

N/A

0.663DataRank · unranked

82 citations

Freddy Cliquet, Richard Anney, Clara Moreau, Nicolas Traut, Alexandre Mathieu +20 more

Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies

Neuron(2020)10.1016/j.neuron.2020.10.012

N/A

0.657DataRank · unranked

79 citations

Qiangjun Zhou, Ok‐Ho Shin, Luis Esquivies, Pei-Yi Lin, K. Ian White +6 more

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

European Journal of Human Genetics(2022)10.1038/s41431-021-00987-7

N/A

0.646DataRank · unranked

73 citations

Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Katja K. H. Aben +90 more

Research on COVID-19 through patient-reported data: a survey for observational studies in the COVID-19 pandemic

Journal of Clinical and Translational Science(2020)10.1017/cts.2020.509

Top 31%

0.643DataRank

Top 31%10 citations

Wendy K. Chung, Scott Dudek, Jennifer L. Williamson, Anurag Verma, Scott Robinson +7 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

0.637DataRank · unranked

69 citations

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

Characterization of the Cancer Spectrum in Men With GermlineBRCA1andBRCA2Pathogenic Variants

JAMA Oncology(2020)10.1001/jamaoncol.2020.2134

N/A

0.633DataRank · unranked

67 citations

Goska Leslie, Daniel R. Barnes, and the CIMBA Group, Bjarni A. Agnarsson, Kristiina Aittomäki +95 more

The genetic architecture of pediatric cardiomyopathy

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.006

N/A

0.624DataRank · unranked

63 citations

Surbhi Bhatnagar, Phillip J. Dexheimer, James D. Wilkinson, Arthi Sridhar, Xiao Fan +23 more

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Communications Biology(2022)10.1038/s42003-022-03978-6

N/A

0.607DataRank · unranked

15 citations

John F. Pearson, Louise Marquart, Joe Dennis, George A. R. Wiggins, Daniel R. Barnes +95 more

Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model

Cancer Epidemiology Biomarkers & Prevention(2023)10.1158/1055-9965.epi-22-0756

N/A

0.598DataRank · unranked

53 citations

Lorenzo Ficorella, Tim Carver, Andrew Lee, Alex Cunningham, Michael Lush +20 more

Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction

Breast Cancer Research(2024)10.1186/s13058-024-01947-x

N/A

0.585DataRank · unranked

13 citations

Nasim Mavaddat, Joe Dennis, Maria Zanti, Qin Wang, Manjeet K. Bolla +95 more

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

New England Journal of Medicine(2021)10.1056/nejmoa2033911

N/A

0.581DataRank · unranked

47 citations

Emmanuelle Szenker‐Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo +25 more

Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Genetic Epidemiology(2020)10.1002/gepi.22288

N/A

0.574DataRank · unranked

45 citations

Alexander Gusev, Bogdan Paşaniuc, Lang Wu, Jirong Long, Zomoroda Abu-Full +95 more

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

PLoS Genetics(2020)10.1371/journal.pgen.1009189

N/A

0.571DataRank · unranked

44 citations

Nihir Patel, Felix Richter, Bharati Jadhav, Paras Garg, Sarah U. Morton +16 more

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0.568DataRank · unranked

43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0.564DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100074

N/A

0.557DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

Molecular Function and Contribution of TBX4 in Development and Disease

American Journal of Respiratory and Critical Care Medicine(2022)10.1164/rccm.202206-1039tr

N/A

0.557DataRank · unranked

40 citations

Carrie L. Welch, Christian Mosimann, Katarzyna Bzdęga, James West, David Montani +16 more

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Nature Communications(2021)10.1038/s41467-020-20496-3

N/A

0.553DataRank · unranked

39 citations

Michael Lush, Jonathan Beesley, Tracy A. O’Mara, Joe Dennis, Jonathan P. Tyrer +94 more

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )

Human Mutation(2020)10.1002/humu.24079

N/A

0.553DataRank · unranked

39 citations

Nicole J. Van Bergen, Kristen J. Verhey, Cameron J. Nowell, Breane Budaitis, Yang Yue +18 more

Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.04.012

N/A

0.546DataRank · unranked

37 citations

Wylie Burke, Erik Parens, David A. Zeevi, Laura Arbour, Nanibaa’ A. Garrison +3 more

Prepubertal Internalizing Symptoms and Timing of Puberty Onset in Girls

American Journal of Epidemiology(2020)10.1093/aje/kwaa223

N/A

0.542DataRank · unranked

36 citations

Rebecca D. Kehm, Lisa A. Schwartz, Caren J. Frost, Wendy K. Chung, Sarah V. Colonna +12 more

Novel frameshift mutation in Troponin C (TNNC1) associated with hypertrophic cardiomyopathy and sudden death

Cardiology in the Young(2011)10.1017/s1047951110001927

N/A

0.500DataRank · unranked

27 citations

Carrie Kitner, Barry J. Maron, Wendy K. Chung

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5

N/A

0.494DataRank · unranked

26 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 more

Practical considerations for reinterpretation of individual genetic variants

Genetics in Medicine(2023)10.1016/j.gim.2023.100801

N/A

0.483DataRank · unranked

24 citations

Sara M. Berger, Elly Brokamp, H. Shelton Brown, Wylie Burke, Ellen Wright Clayton +14 more

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare

Genetics in Medicine(2023)10.1016/j.gim.2023.100022

N/A

0.477DataRank · unranked

23 citations

Nicola Brunetti‐Pierri, Wendy K. Chung, Angus Clarke, Nina B. Gold, Robert C. Green +6 more

Cardiac imaging and biomarkers for assessing myocardial fibrosis in children with hypertrophic cardiomyopathy

American Heart Journal(2023)10.1016/j.ahj.2023.06.005

N/A

0.462DataRank · unranked

10 citations

Pamela K. Woodard, Ling Shi, Taye H. Hamza, Charles E. Canter, Steven D. Colan +23 more

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

British Journal of Cancer(2023)10.1038/s41416-023-02263-5

N/A

0.449DataRank · unranked

19 citations

Susan J. Ramus, Melissa C. Southey, Nicola S. Meagher, Andreas Hadjisavvas, Esther M. John +87 more

Using large-scale population-based data to improve disease risk assessment of clinical variants

Nature Genetics(2025)10.1038/s41588-025-02212-3

Top 42%

0.442DataRank

Top 42%10 citations

Kuan-lin Huang, Julie M. Eggington, Wendy K. Chung, Daniel M. Jordan, Ron Do +1 more

The polygenic architecture of left ventricular mass mirrors the clinical epidemiology

Scientific Reports(2020)10.1038/s41598-020-64525-z

N/A

0.442DataRank · unranked

18 citations

Rebecca T. Levinson, Eric Farber‐Eger, Todd L. Edwards, Jacklyn N. Hellwege, Adriana M. Hung +20 more

Artificial intelligence and the impact on medical genetics

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2023)10.1002/ajmg.c.32060

N/A

0.427DataRank · unranked

10 citations

Wendy K. Chung, Benjamin D. Solomon

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Nature Communications(2025)10.1038/s41467-025-61698-x

Top 44%

0.417DataRank

Top 44%14 citations

Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah Einson +95 more

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in Medicine(2022)10.1016/j.gim.2022.05.009

N/A

0.416DataRank · unranked

15 citations

Jinwei Zhang, Thomas Besnard, Alfonso Caro‐Llopis, Xue Zeng, Stephanie M. Robert +75 more

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Genome Medicine(2023)10.1186/s13073-022-01152-5

N/A

0.416DataRank · unranked

15 citations

Alvina G. Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang +95 more

Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks

Frontiers in Neuroscience(2020)10.3389/fnins.2020.562292

N/A

0.406DataRank · unranked

14 citations

Uthayashanker Ezekiel, Fenglian Xu, T. Subramanian, Elizabeth Geerling, Brittany Hoelscher +11 more

Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder

Research in Developmental Disabilities(2021)10.1016/j.ridd.2021.104110

N/A

0.406DataRank · unranked

14 citations

Sara Beenders, Nicole LaMarca, Olivia Thornburg, Lewis Rubin-Thompson, Arielle Snow +4 more

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.08.024

N/A

0.406DataRank · unranked

14 citations

Carrie L. Welch, Rebecca Hernan, Julia Wynn, Usha Krishnan, Jill M. Zalieckas +46 more

OARD: Open annotations for rare diseases and their phenotypes based on real-world data

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.002

N/A

0.406DataRank · unranked

14 citations

Casey Ta, Jim M. Havrilla, Jordan G. Nestor, Matthew E. Spotnitz, Andrew S. Geneslaw +5 more

Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.024

N/A

0.391DataRank · unranked

8 citations

David Stein, Peter D. Stenson, D.N. Cooper, Wendy K. Chung, Peter J. Gruber +6 more

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

EBioMedicine(2024)10.1016/j.ebiom.2024.105297

N/A

0.385DataRank · unranked

12 citations

Cesar Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli +46 more

An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results

JAMIA Open(2021)10.1093/jamiaopen/ooab014

N/A

0.385DataRank · unranked

12 citations

Alexander Fedotov, David Fasel, Maddalena Marasà, Hila Milo Rasouly, Julia Wynn +7 more

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine(2024)10.1038/s41525-024-00441-9

Top 48%

0.373DataRank

Top 48%11 citations

Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra +32 more

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders

npj Digital Medicine(2024)10.1038/s41746-024-01331-1

N/A

0.373DataRank · unranked

11 citations

Priyanka Ahimaz, Quan M. Nguyen, Rachel Lewis, Wendy K. Chung, Casey Ta +7 more

Association of the CHEK2 c. 1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival

Cancer Medicine(2023)10.1002/cam4.6272

N/A

0.360DataRank · unranked

10 citations

Maartje A. C. Schreurs, Irene L. Andrulis, Hoda Anton‐Culver, Annelie Augustinsson, Matthias W. Beckmann +95 more

B56δ long-disordered arms form a dynamic PP2A regulation interface coupled with global allostery and Jordan’s syndrome mutations

Proceedings of the National Academy of Sciences(2023)10.1073/pnas.2310727120

N/A

0.360DataRank · unranked

10 citations

Vijaya Kumar Balakrishnan, Ronald A. Merrill, Pankaj Singh Parihar, Kirill Konovolov, Yu‐Chia Chen +14 more

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes

Genome Medicine(2021)10.1186/s13073-021-00964-1

N/A

0.345DataRank · unranked

9 citations

Xiao Fan, Yufeng Shen, Meghana S. Pagadala, Rebecca Signer, Kamil J. Cygan +5 more

Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice

Biological Psychiatry(2023)10.1016/j.biopsych.2023.02.993

N/A

0.345DataRank · unranked

9 citations

Guiyang Huang, Tianyun Wang, Weicheng Duan, Hua Li, Yirong Wang +14 more

Pathogenic PHIP Variants are Variably Associated With CAKUT

Kidney International Reports(2024)10.1016/j.ekir.2024.05.024

N/A

0.330DataRank · unranked

8 citations

Tobias Sieckmann, Ria Schönauer, Friederike Petzold, Johannes Münch, M. Pauly +15 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0.330DataRank · unranked

8 citations

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4 citations

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