Bruce D. Gelb

Also affiliated with Icahn School of Medicine at Mount Sinai

Biochemistry, Genetics and Molecular BiologyMedicineImmunology and Microbiology

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

2.8Author DataRank

Indexed papers

4in 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 4 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.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Nature Medicine(2023)10.1038/s41591-023-02211-z

Top 12%

1.8DataRank

Top 12%81 citations

Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al‐Owain, Arnaud P. J. Giese +28 more

Papers

Driven by 86 papers — median percentile 73. Top paper: “Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries”.

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Nature Communications(2018)10.1038/s41467-018-04668-w

N/A

3.7DataRank · unranked

109 citations

Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan M. Bloom, Timothy Poterba +442 more

Transcription factor protein interactomes reveal genetic determinants in heart disease

Cell(2022)10.1016/j.cell.2022.01.021

N/A

2.9DataRank · unranked

89 citations

Maureen Pittman, Franco Felix, Reuben Thomas, Desmond Richmond-Buccola, Ruth Hüttenhain +23 more

Molecular states during acute COVID-19 reveal distinct etiologies of long-term sequelae

Nature Medicine(2022)10.1038/s41591-022-02107-4

N/A

2.3DataRank · unranked

75 citations

Nicole W. Simons, Lillian Wilkins, Esther Cheng, Diane M. Del Valle, Gabriel E. Hoffman +91 more

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Nature Medicine(2023)10.1038/s41591-023-02211-z

Top 12%

1.8DataRank

Top 12%81 citations

Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al‐Owain, Arnaud P. J. Giese +28 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

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

Enabling Technologies for Personalized and Precision Medicine

Trends in biotechnology(2020)10.1016/j.tibtech.2019.12.021

N/A

0.932DataRank · unranked

500 citations

Stephen R. Quake, Edward R.B. McCabe, Wee Joo Chng, Edward Kai‐Hua Chow, Xianting Ding +11 more

Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis

Circulation Genomic and Precision Medicine(2021)10.1161/circgen.121.003426

N/A

0.876DataRank · unranked

24 citations

Yingying Tang, Nihir Patel, Zhanna Georgievskaya, Mariya Shadrina, Nori Williams +6 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

Structural variation across 138,134 samples in the TOPMed consortium

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.25.525428

Top 27%

0.737DataRank

Top 27%18 citations

Adam C. English, Ginger Metcalf, Jianzhi Yang, Mark J. P. Chaisson, Nathan Pankratz +82 more

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

Immunity(2020)10.1016/j.immuni.2020.07.006

N/A

0.734DataRank · unranked

132 citations

Jorg J. A. Calis, Sofija Buta, Gilad D. Evrony, J.P. Martin, Skyler Uhl +13 more

The Somatic Mosaicism across Human Tissues Network

Nature(2025)10.1038/s41586-025-09096-7

N/A

0.672DataRank · unranked

43 citations

Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Adam Voshall +365 more

Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy

JACC Basic to Translational Science(2024)10.1016/j.jacbts.2024.10.002

N/A

0.625DataRank · unranked

22 citations

Martin Zenker, Olga Boleti, Gabrielle Norrish, Mark W. Russell, Joshua K. Meisner +37 more

The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in Drosophila

Frontiers in Genetics(2020)10.3389/fgene.2020.00364

N/A

0.510DataRank · unranked

8 citations

Pablo E. Schilman, Álvaro Martín, Sergio E. Lew, Bruce D. Gelb, Mario R. Pagani +1 more

Toward governance of artificial intelligence in pediatric healthcare

npj Digital Medicine(2025)10.1038/s41746-025-02000-7

N/A

0.492DataRank · unranked

12 citations

Emma Holmes, Florian Richter, Katherine Guttmann, Son Q. Duong, Sandeep Gangadharan +5 more

Hope versus reality: Parent expectations of genomic testing

Patient Education and Counseling(2021)10.1016/j.pec.2021.01.030

N/A

0.470DataRank · unranked

22 citations

Siobhan M. Dolan, Dana Watnick, Katie M. Gallagher, Jacqueline A. Odgis, Sabrina A. Suckiel +7 more

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing

PEDIATRICS(2023)10.1542/peds.2022-060318

N/A

0.416DataRank · unranked

15 citations

Bart S. Ferket, Bruce D. Gelb, Lucia A. Hindorff, Kathleen D.M. Ferar, Mary E. Norton +6 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

Repeating or spacing learning sessions are strategies for memory improvement with shared molecular and neuronal components

Neurobiology of Learning and Memory(2020)10.1016/j.nlm.2020.107233

N/A

0.354DataRank · unranked

4 citations

Álvaro Martín, Sergio E. Lew, Bruce D. Gelb, Mario R. Pagani, Verónica Cattaneo

Prospects for precision genetic medicine in congenital heart disease

Current Opinion in Genetics & Development(2022)10.1016/j.gde.2022.101983

N/A

0.345DataRank · unranked

9 citations

Bruce D. Gelb

Structural variation across 138,134 samples in the TOPMed consortium

Research Square(2023)10.21203/rs.3.rs-2515453/v1

N/A

0.345DataRank · unranked

9 citations

Adam C. English, Ginger Metcalf, Jianzhi Yang, Mark J. P. Chaisson, Nathan Pankratz +82 more

Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes

Nature Communications(2024)10.1038/s41467-024-48394-y

N/A

0.330DataRank · unranked

8 citations

Surya B. Chhetri, Carla J. Connelly, Margaret A. Taub, Matthew P. Conomos, Joshua S. Weinstock +95 more

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

medRxiv(2023)10.1101/2023.03.18.23286992

N/A

0.312DataRank · unranked

7 citations

Priya Marathe, Nicole Kelly, Katherine E. Bonini, Monisha Sebastin, Jacqueline A. Odgis +22 more

Association of genetic and sulcal traits with executive function in congenital heart disease

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51950

N/A

0.312DataRank · unranked

7 citations

Jane W. Newburger, David Wypij, Nina H. Thomas, Evdokia Anagnoustou, Martina Brueckner +17 more

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Nature Communications(2020)10.1038/s41467-020-15236-6

Top 57%

0.275DataRank

Top 57%2 citations

Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan M. Bloom, Timothy Poterba +442 more

Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery

Nature Communications(2025)10.1038/s41467-025-61625-0

N/A

0.241DataRank · unranked

4 citations

Edgar J. Hernández, Thomas A. Miller, Nathan R. Blue, Raquel M. Zimmerman, Eric R. Griffiths +21 more

Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact

iScience(2024)10.1016/j.isci.2024.111707

N/A

0.165DataRank · unranked

2 citations

Jane W. Newburger, Steven R. DePalma, Martina Brueckner, John D. Cleveland, Wendy K. Chung +16 more

Quantitative prediction of right ventricular and size and function from the electrocardiogram

medRxiv(2023)10.1101/2023.04.25.23289130

N/A

0.165DataRank · unranked

2 citations

Akhil Vaid, Ha My T. Vy, Liam R. Butler, Joshua Lampert, Robert H. Pass +8 more

Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing

BMC Medical Genomics(2025)10.1186/s12920-025-02191-8

N/A

0.165DataRank · unranked

2 citations

Sarah U. Morton, Daniel Quiat, Steven R. DePalma, Joshua M. Gorham, Martina Brueckner +5 more

Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease

Communications Medicine(2026)10.1038/s43856-026-01417-9

N/A

0.109DataRank · unranked

1 citations

Sheng He, Heather R. Adams, Evdokia Anagnoustou, David C. Bellinger, Martina Brueckner +25 more

Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders

Quality of Life Research(2024)10.1007/s11136-024-03677-1

N/A

0.104DataRank · unranked

1 citations

Nicole Kelly, Ashley Fisher, Samuel F. Hohmann, Noura S. Abul‐Husn, John M. Greally +6 more

Validation of human telomere length trans-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as novel human telomere length regulation genes

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.07.12.548702

N/A

0.104DataRank · unranked

1 citations

Surya B. Chhetri, Carla J. Connelly, Margaret A. Taub, Matthew P. Conomos, Joshua S. Weinstock +93 more

PTPN11 Mutational Spectrum in Juvenile Myelomonocytic Leukemia and Noonan Syndrome.

Blood(2004)10.1182/blood.v104.11.3417.3417

N/A

0.104DataRank · unranked

1 citations

Charlotte M. Niemeyer, Bruce D. Gelb, Marco Tartaglia, Mignon L. Loh, Christian P. Kratz

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

Clinical Genetics(2023)10.1111/cge.14365

N/A

0DataRank · unranked

6 citations

Amanda Thomas‐Wilson, Priya N. Marathe, Monisha Sebastin, Jacqueline A. Odgis, Miranda Di Biase +24 more

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.016

N/A

0DataRank · unranked

6 citations

Nicole Kelly, Jacqueline A. Odgis, Katie M. Gallagher, Monisha Sebastin, Katherine E. Bonini +18 more

Feeder-Free Generation of Endocardial and Cardiac Valve Cells from Human Pluripotent Stem Cells

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.03.530824

N/A

0DataRank · unranked

0 citations

Aditi Krishna Prasad, Bharati Jadhav, Andrew J. Sharp, Bruce D. Gelb, Clifford Z. Liu

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families

medRxiv(2023)10.1101/2023.07.05.23292193

N/A

0DataRank · unranked

0 citations

Nicole Kelly, Jacqueline A. Odgis, Katie M. Gallagher, Monisha Sebastin, Katherine E. Bonini +18 more

Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program

Genetics in Medicine(2023)10.1016/j.gim.2023.101011

N/A

0DataRank · unranked

0 citations

Nicole Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase +14 more

Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease

Nature Genetics(2024)10.1038/s41588-024-01669-y

N/A

0DataRank · unranked

50 citations

Xiaoran Zhang, Sarah U. Morton, Seong Won Kim, Youfei Fan, Joshua M. Gorham +16 more

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100286

N/A

0DataRank · unranked

15 citations

Michelle L. Thompson, Lisa J. Martin, Bruce D. Gelb, Anne Slavotinek

NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data

Bioinformatics(2024)10.1093/bioinformatics/btae129

N/A

0DataRank · unranked

7 citations

Jacob Wallace, Alderik van der Heyde, Eliza Wieman, Daniel Brey, Yiran Shi +6 more

HRAS -Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia

Circulation Arrhythmia and Electrophysiology(2024)10.1161/circep.123.012022

N/A

0DataRank · unranked

5 citations

Nihir Patel, Rafael Dariolli, Simon Ng, Angelika G. Aleman, Jingqi Q.X. Gong +11 more

Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure

NeuroImage(2024)10.1016/j.neuroimage.2024.120721

N/A

0DataRank · unranked

4 citations

Ami Norris‐Brilliant, Anum Rahman, Stephania Assimopoulos, Sarah U. Morton, Azadeh Kushki +26 more

Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.015

N/A

0DataRank · unranked

4 citations

Katherine E. Bonini, Laura Scarimbolo, Nicole Kelly, Beverly J. Insel, Sabrina A. Suckiel +36 more

Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100321

N/A

0DataRank · unranked

1 citations

Sabrina A. Suckiel, Katherine E. Bonini, Nicole Kelly, Laura Scarimbolo, Beverly J. Insel +22 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

Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes

UNC Libraries(2024)10.17615/vs68-ca81

N/A

0DataRank · unranked

0 citations

Ryan L. Minster, Fernando D. Martínez, Dawood Darbar, Juan M. Peralta, Barbara A. Konkle +93 more

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.05.014

N/A

0DataRank · unranked

8 citations

Jonathan Klonowski, Bo Yuan, Karen J. Coveler, Zain Dardas, Iman Egab +15 more

Patient and providers’ perspectives on using the GUÍA digital tool to enhance genomic results disclosure

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103451

N/A

0DataRank · unranked

1 citations

Sabrina A. Suckiel, Laura Golfinopoulos, Nicole R. Kelly, Katherine E. Bonini, Priya N. Marathe +15 more

Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease

Medical Image Analysis(2025)10.1016/j.media.2025.103538

N/A

0DataRank · unranked

0 citations

Seungyeon Son, Sarah U. Morton, David Wypij, John D. Cleveland, Caitlin K. Rollins +18 more

Efficient identification of de novo mutations in family trios: a consensus-based informatic approach

Life Science Alliance(2025)10.26508/lsa.202403039

N/A

0DataRank · unranked

0 citations

Özem Kalay, Sinem Demirkaya-Budak, Charles A. LeDuc, Wendy K. Chung, Deniz Turgut +9 more

Machine Learning to Infer Neurocognitive Testing Scores Among Adolescents and Young Adults with Congenital Heart Disease

Research Square(2025)10.21203/rs.3.rs-6787532/v1

N/A

0DataRank · unranked

0 citations

Sheng He, Heather Adams, Evdokia Anagnostou, David C. Bellinger, Martina Brueckner +19 more

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

medRxiv(2025)10.1101/2025.10.09.25337582

N/A

0DataRank · unranked

0 citations

Neil Jacob, Mohammad Ghouse Syed, Janhawi Kelkar, Colleen Donnelly, Ibrahim Elsharkawi +6 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions

Nature Methods(2025)10.1038/s41592-025-02919-5

N/A

0DataRank · unranked

0 citations

Yi Zhang, Xihao Li, Margaret Sunitha Selvaraj, Zilin Li, Hufeng Zhou +544 more

Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C)

Cell(2020)10.1016/j.cell.2020.09.034

N/A

0DataRank · unranked

560 citations

Roosheel S. Patel, Rebecca Trachtman, Lauren Lepow, Fatima Amanat, Florian Krammer +31 more

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.018

N/A

0DataRank · unranked

93 citations

Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti +45 more

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways

Genome Medicine(2020)10.1186/s13073-019-0709-8

N/A

0DataRank · unranked

74 citations

Peng Zhang, Martin Tristani‐Firouzi, Bruce D. Gelb, Yuval Itan, Çiğdem Sevim Bayrak

Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61485

N/A

0DataRank · unranked

63 citations

Megan N. Frone, Karen W. Gripp, Bruce D. Gelb, Lisa Schoyer, Lisa Schill +17 more

Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome

The Journal of Pediatrics(2020)10.1016/j.jpeds.2020.03.064

N/A

0DataRank · unranked

17 citations

Lynn A. Sleeper, Bruce D. Gelb, Shaine A. Morris, Harry C. Dietz, Geoffrey A. Forbus +19 more

A de novo pathogenic BMP2 variant‐related phenotype with the novel finding of bicuspid aortic valve

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61992

N/A

0DataRank · unranked

7 citations

Bruce D. Gelb, Neha Ahluwalia

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

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

N/A

0DataRank · unranked

43 citations

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

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Genetics in Medicine(2020)10.1038/s41436-020-00973-2

N/A

0DataRank · unranked

42 citations

Nihir Patel, Madeline Lui, Arden Moscati, Ron Do, Douglas R. Stewart +6 more

Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing

Human Mutation(2020)10.1002/humu.23971

N/A

0DataRank · unranked

4 citations

Felix Richter, Nihir Patel, Oscar L. Rodriguez, Gintaras Deikus, Hardik Shah +7 more

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

medRxiv(2020)10.1101/2020.09.02.20186361

N/A

0DataRank · unranked

1 citations

Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole Kelly +41 more

GUÍA: a digital platform to facilitate result disclosure in genetic counseling

medRxiv(2020)10.1101/2020.09.14.20194191

N/A

0DataRank · unranked

0 citations

Jaqueline A. Odgis, Katie M. Gallagher, Jessica Rodriguez, Dana Watnick, Gabrielle Bertier +27 more

Drosophila RASopathy Models Identify Disease Subtype Differences and Biomarkers of Drug Efficacy

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.30.362350

N/A

0DataRank · unranked

0 citations

Jared Gatto, Rupa Mirmira, Ethan Hourizadeh, Dalia S. Kaufman, Bruce D. Gelb +2 more

GenomeDiver: A platform for phenotype-guided medical genomic diagnosis

medRxiv(2020)10.1101/2020.11.22.20236430

N/A

0DataRank · unranked

0 citations

Christian Stolte, Kevin Shi, Faygel Beren, Noura S. Abul‐Husn, Gabrielle Bertier +12 more

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Research Square(2020)10.21203/rs.3.rs-64844/v1

N/A

0DataRank · unranked

0 citations

Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole Kelly +41 more

Myopathic Cardiac Genotypes Increase Risk for Myocarditis

JACC Basic to Translational Science(2021)10.1016/j.jacbts.2021.06.001

N/A

0DataRank · unranked

87 citations

Nihir Patel, Arden Moscati, Felix Richter, Inga Peter, Enkhsaikhan Purevjav +7 more

Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy

iScience(2021)10.1016/j.isci.2021.102306

N/A

0DataRank · unranked

34 citations

Jared Gatto, Rupa Mirmira, Ethan Hourizadeh, Dalia S. Kaufman, Bruce D. Gelb +2 more

GUÍA: a digital platform to facilitate result disclosure in genetic counseling

Genetics in Medicine(2021)10.1038/s41436-020-01063-z

N/A

0DataRank · unranked

28 citations

Jaqueline A. Odgis, Katie M. Gallagher, Jessica Rodriguez, Dana Watnick, Gabrielle Bertier +27 more

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis

European Journal of Human Genetics(2021)10.1038/s41431-021-00883-0

N/A

0DataRank · unranked

21 citations

Hilary Hotchkiss, Pankaj Prasun, Bruce D. Gelb, Lisa M. Satlin, Bryn D. Webb

NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data

GigaScience(2021)10.1093/gigascience/giab046

N/A

0DataRank · unranked

5 citations

Crystal Paudyal, Musab Shakeel, William L. Kelley, Ali Bashir, Bruce D. Gelb +1 more

Integration of Protein Interactome Networks with Congenital Heart Disease Variants Reveals Candidate Disease Genes

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.05.423837

N/A

0DataRank · unranked

2 citations

Maureen Pittman, Franco Felix, Desmond Richmond-Buccola, Reuben Thomas, Krishna Choudhary +16 more

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.32012

N/A

0DataRank · unranked

97 citations

Yoko Aoki, Bruce D. Gelb, Marco Tartaglia

New prospectives on treatment opportunities in RASopathies

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.32024

N/A

0DataRank · unranked

41 citations

Marielle E. Yohe, Cordula M. Wolf, Grégor Andelfinger, Bruce D. Gelb

Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods

Genetics in Medicine(2022)10.1016/j.gim.2022.06.004

N/A

0DataRank · unranked

18 citations

Zach Baldwin, Priyanka Murali, Akila Pai, Kathleen F. Mittendorf, Heidi V. Russell +10 more

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62716

N/A

0DataRank · unranked

16 citations

Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Grégor Andelfinger +37 more

Detection of mosaic variants using genome sequencing in a large pediatric cohort

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63062

N/A

0DataRank · unranked

14 citations

Katie M. Gallagher, Atteeq U. Rehman, Priya Marathe, Katherine E. Bonini, Monisha Sebastin +21 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

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0DataRank · unranked

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0DataRank · unranked

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0DataRank · unranked

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