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Works (13)

Validation of the NCCN/Yale criteria for the identification ofCDH1pathogenic variant carriers

Journal of Medical Genetics
2025-02 | Journal article
DOI: 10.1136/jmg-2024-110446
Contributors: Benjamin A Lerner; Mar Giner-Calabuig; Cassidy Carraway; Marcy Richardson; Karl Krahn; Lisa Susswein; Sarah M Nielsen; Rachid Karam; Rosa M Xicola; Xavier Llor
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Data from Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma <i>In Situ</i> of the Breast

2025-01-06 | Preprint
DOI: 10.1158/1078-0432.c.7611412
Contributors: Huaizhi Huang; Ronan E. Couch; Rachid Karam; Chunling Hu; Nicholas Boddicker; Eric C. Polley; Jie Na; Christine B. Ambrosone; Song Yao; Amy Trentham-Dietz et al.
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Data Supplement 1 from Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma <i>In Situ</i> of the Breast

2025-01-06 | Preprint
DOI: 10.1158/1078-0432.28141741
Contributors: Huaizhi Huang; Ronan E. Couch; Rachid Karam; Chunling Hu; Nicholas Boddicker; Eric C. Polley; Jie Na; Christine B. Ambrosone; Song Yao; Amy Trentham-Dietz et al.
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Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast

Clinical Cancer Research
2025-01-06 | Journal article
DOI: 10.1158/1078-0432.CCR-24-1884
Contributors: Huaizhi Huang; Ronan E. Couch; Rachid Karam; Chunling Hu; Nicholas Boddicker; Eric C. Polley; Jie Na; Christine B. Ambrosone; Song Yao; Amy Trentham-Dietz et al.
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Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing

JCO Precision Oncology
2024-12 | Journal article
DOI: 10.1200/PO.23.00404
Contributors: Colin C. Young; Carolyn Horton; Jessica Grzybowski; Nelly Abualkheir; Jesus Ramirez Castano; Bhuvan Molparia; Rachid Karam; Elizabeth Chao; Marcy E. Richardson
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Saturation-scale functional evidence supports clinical variant interpretation in Lynch Syndrome

2022-08-10 | Preprint
DOI: 10.1101/2022.08.08.22278549
Contributors: Anthony Scott; Felicia Hernandez; Adam Chamberlin; Cathy Smith; Rachid Karam; Jacob O. Kitzman
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Classification of the canonical splice alterationMUTYHc.934-2A > G is likely benign based on RNA and clinical data

Molecular Case Studies
2022-01 | Journal article
DOI: 10.1101/mcs.a006152
Contributors: Felicia Hernandez; Blair R. Conner; Marcy E. Richardson; Holly LaDuca; Elizabeth Chao; Tina Pesaran; Rachid Karam
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Reticular dysgenesis caused by an intronic pathogenic variant in AK2

Molecular Case Studies
2020-06 | Journal article
DOI: 10.1101/mcs.a005017
Contributors: Shoji Ichikawa; Susan Prockop; Charlotte Cunningham-Rundles; Travis Sifers; Blair R. Conner; Sitao Wu; Rachid Karam; Michael F. Walsh; Elise Fiala
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Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico

Scientific Reports
2019-11-28 | Journal article
DOI: 10.1038/s41598-019-54170-6
Contributors: Julie Dutil; Jamie K. Teer; Volha Golubeva; Sean Yoder; Wei Lue Tong; Nelly Arroyo; Rachid Karam; Miguel Echenique; Jaime L. Matta; Alvaro N. Monteiro
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Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing

Genetics in Medicine
2019-07-19 | Journal article
DOI: 10.1038/s41436-018-0397-6
Contributors: Wenbo Mu; Bing Li; Sitao Wu; Jefferey Chen; Divya Sain; Dong Xu; Mary Helen Black; Rachid Karam; Katrina Gillespie; Kelly D. Farwell Hagman et al.
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RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome

Gastroenterology
2019-05 | Journal article
DOI: 10.1053/j.gastro.2019.01.248
Contributors: Blair R. Conner; Felicia Hernandez; Beth Souders; Tyler Landrith; C. Richard Boland; Rachid Karam
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Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Human Mutation
2018-11 | Journal article
DOI: 10.1002/humu.23636
Contributors: Jessica L. Mester; Rajarshi Ghosh; Tina Pesaran; Robert Huether; Rachid Karam; Kathleen S. Hruska; Helio A. Costa; Katherine Lachlan; Joanne Ngeow; Jill Barnholtz‐Sloan et al.
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A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay

Molecular Case Studies
2018-08 | Journal article
DOI: 10.1101/mcs.a003012
Contributors: Kate Krempely; Rachid Karam
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Peer review (5 reviews for 3 publications/grants)

Review activity for Breast cancer research and treatment. (1)
Review activity for Genetics in medicine open. (3)
Review activity for Journal of medical genetics (1)
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