Rachid Karam

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 23

Top Topics

Clinical Practice

Dna Damage Response

Top Venues

JCO precision oncology

Journal of medical genetics

Cold Spring Harbor molecular case studies

This page only lists publications with an associated author ORCID identifier.

Publications

Colin C Young, Carolyn Horton, Jessica Grzybowski, Nelly Abualkheir, Jesus Ramirez Castano, Bhuvan Molparia, Rachid Karam, Elizabeth C Chao, Marcy E Richardson
Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing. JCO precision oncology 8 (2024)
Colin C Young, Carolyn Horton, Jessica Grzybowski, Nelly Abualkheir, Jesus Ramirez Castano, Bhuvan Molparia, Rachid Karam, Elizabeth C Chao, Marcy E Richardson
Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing. JCO precision oncology 8 (2024)
Colin C Young, Carolyn Horton, Jessica Grzybowski, Nelly Abualkheir, Jesus Ramirez Castano, Bhuvan Molparia, Rachid Karam, Elizabeth C Chao, Marcy E Richardson
Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing. JCO precision oncology 8 (2024)
Colin C Young, Carolyn Horton, Jessica Grzybowski, Nelly Abualkheir, Jesus Ramirez Castano, Bhuvan Molparia, Rachid Karam, Elizabeth C Chao, Marcy E Richardson
Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing. JCO precision oncology 8 (2024)
Chunling Hu, Anil Belur Nagaraj, Hermela Shimelis, Gemma Montalban, Kun Y Lee, Huaizhi Huang, Carolyn A Lumby, Jie Na, Lisa R Susswein, Maegan E Roberts, Megan L Marshall, Susan Hiraki, Holly LaDuca, Elizabeth C Chao, Amal Yussuf, Tina Pesaran, Susan L Neuhausen, Christopher A Haiman, Peter Kraft, Sara Lindström, Julie R Palmer, Lauren R Teras, Celine M Vachon, Song Yao, Irene M Ong, Katherine L Nathanson, Jeffrey N Weitzel, Nicholas J Boddicker, Rohan Gnanaolivu, Eric C Polley, Georges Mer, Gaofeng Cui, Rachid Karam, Marcy E Richardson, Susan M Domchek, Siddhartha Yadav, Kathleen S Hruska, Jill S Dolinsky, John S Weroha, Steven N Hart, Jacques Simard, Jean-Yves Masson, Yuan-Ping Pang, Fergus J Couch
Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C. Cancer research (2023)
Mads Thomassen, Romy L S Mesman, Thomas V O Hansen, Mireia Menendez, Maria Rossing, Ada Esteban-Sánchez, Emma Tudini, Therese Törngren, Michael T Parsons, Inge S Pedersen, Soo H Teo, Torben A Kruse, Pål Møller, Åke Borg, Uffe B Jensen, Lise L Christensen, Christian F Singer, Daniela Muhr, Marta Santamarina, Rita Brandao, Brage Storstein Andresen, Bing-Jian Feng, Daffodil Canson, Marcy E Richardson, Rachid Karam, Tina Pesaran, Holly LaDuca, Blair R Conner, Nelly Abualkheir, Lily Hoang, Fabienne M G R Calléja, Lesley Andrews, Paul A James, Dave Bunyan, Amanda Hamblett, Paolo Radice, David E Goldgar, Logan C Walker, Christoph Engel, Kathleen B M Claes, Eva Macháčková, Htoo Aung Wai, Alessandra Viel, Barbara Wappenschmidt, Conxi Lazaro, Ana Vega, null null, Maaike P G Vreeswijk, Miguel de la Hoya, Amanda B Spurdle
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. Human mutation (2022)
Edwin S Iversen, Gary Lipton, Steven N Hart, Kun Y Lee, Chunling Hu, Eric C Polley, Tina Pesaran, Amal Yussuf, Holly LaDuca, Elizabeth Chao, Rachid Karam, David E Goldgar, Fergus J Couch, Alvaro N A Monteiro
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance. NPJ genomic medicine 7 (1) (2022)
Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Zarina Yelskaya, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam, null null
Optimising clinical care through CDH1 -specific germline variant curation: improvement of clinical assertions and updated curation guidelines. Journal of medical genetics (2022)
Carolyn Horton, Ashley Cass, Blair R Conner, Lily Hoang, Heather Zimmermann, Nelly Abualkheir, David Burks, Dajun Qian, Bhuvan Molparia, Huy Vuong, Holly LaDuca, Jessica Grzybowski, Kate Durda, Robert Pilarski, Jessica Profato, Katherine Clayback, Martin Christopher Mahoney, Courtney Schroeder, Wilfredo Torres-Martinez, Aaron Elliott, Elizabeth C Chao, Rachid Karam
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer. NPJ genomic medicine 7 (1) (2022)
Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Zarina Yelskaya, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam, null null
Optimising clinical care through CDH1 -specific germline variant curation: improvement of clinical assertions and updated curation guidelines. Journal of medical genetics (2022)
Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Zarina Yelskaya, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam, null null
Optimising clinical care through CDH1 -specific germline variant curation: improvement of clinical assertions and updated curation guidelines. Journal of medical genetics (2022)
Sami Belhadj, Aliya Khurram, Chaitanya Bandlamudi, Guillermo Palou-Márquez, Vignesh Ravichandran, Zoe Steinsnyder, Temima Wildman, Amanda Catchings, Yelena M Kemel, Semanti Mukherjee, Benjamin Fesko, Kanika S Arora, Miika Mehine, Sita Dandiker, Aalin Izhar, John H J Petrini, Susan M Domchek, Katherine L Nathanson, Jamie Brower, Fergus J Couch, Zsofia K Stadler, Mark E Robson, Michael F Walsh, Joseph Vijai, Michael F Berger, Fran Supek, Rachid Karam, Sabine Topka, Kenneth Offit
NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects. Clinical cancer research : an official journal of the American Association for Cancer Research (2022)
Felicia Hernandez, Blair Rene Conner, Marcy E Richardson, Holly LaDuca, Elizabeth Chao, Tina Pesaran, Rachid Karam
Classification of the canonical splice alteration MUTYH c.934-2A>G is likely benign based on RNA and clinical data. Cold Spring Harbor molecular case studies (2021)
Nicholas J Boddicker, Chunling Hu, Jeffrey N Weitzel, Peter Kraft, Katherine L Nathanson, David E Goldgar, Jie Na, Hongyan Huang, Rohan D Gnanaolivu, Nicole Larson, Amal Yussuf, Song Yao, Celine M Vachon, Amy Trentham-Dietz, Lauren R Teras, Jack A Taylor, Christopher E Scott, Dale R Sandler, Tina Pesaran, Alpa V Patel, Julie R Palmer, Irene M Ong, Janet E Olson, Katie O'Brien, Susan L Neuhausen, María Elena Martínez, Huiyan Ma, Sara Lindstrom, Loic Le Marchand, Charles Kooperberg, Rachid Karam, David J Hunter, James M Hodge, Christopher Haiman, Mia M Gaudet, Chi Gao, Holly LaDuca, James V Lacey, Jill S Dolinsky, Elizabeth Chao, Brian D Carter, Elizabeth S Burnside, Kimberly A Bertrand, Leslie Bernstein, Paul W Auer, Christine B Ambrosone, Siddhartha Yadav, Steven N Hart, Eric C Polley, Susan M Domchek, Fergus J Couch
Risk of Late-Onset Breast Cancer in Genetically Predisposed Women. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 39 (31) (2021)
Siddhartha Yadav, Chunling Hu, Katherine L Nathanson, Jeffrey N Weitzel, David E Goldgar, Peter Kraft, Rohan D Gnanaolivu, Jie Na, Hongyan Huang, Nicholas J Boddicker, Nicole Larson, Chi Gao, Song Yao, Clarice Weinberg, Celine M Vachon, Amy Trentham-Dietz, Jack A Taylor, Dale R Sandler, Alpa Patel, Julie R Palmer, Janet E Olson, Susan L Neuhausen, María Elena Martínez, Sara Lindstrom, James V Lacey, Allison W Kurian, Isabelle Durot, Christopher Haiman, Leslie Bernstein, Paul W Auer, Hoda Anton-Culver, Christine B Ambrosone, Rachid Karam, Elizabeth Chao, Amal Yussuf, Tina Pesaran, Jill S Dolinsky, Steven N Hart, Holly LaDuca, Eric C Polley, Susan M Domchek, Fergus J Couch
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 39 (35) (2021)
Tyler Landrith, Bing Li, Ashley A Cass, Blair Rene Conner, Holly LaDuca, Danielle B McKenna, Kara N Maxwell, Susan M Domchek, Nichole A Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L Geurts, Morgan M Depas, Shraddha Gaonkar, Sara Pirzadeh-Miller, Rebekah Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara Milliron, John E Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda C Ganzak, Sitao Wu, Huy Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao-Mei Lu, Brigette Tippin-Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes. NPJ precision oncology 4 (2020)
Shoji Ichikawa, Susan E Prockop, Charlotte Cunningham-Rundles, Travis Sifers, Blair Rene Conner, Sitao Wu, Rachid Karam, Michael F Walsh, Elise Fiala
Reticular dysgenesis caused by an intronic pathogenic variant in AK2. Cold Spring Harbor molecular case studies 6 (3) (2020)
Yanjing Li, Yiping He, William Butler, Lingfan Xu, Yan Chang, Kefeng Lei, Hong Zhang, Yinglu Zhou, Allen C Gao, Qingfu Zhang, Daniel G Taylor, Donghui Cheng, Suzette Farber-Katz, Rachid Karam, Tyler Landrith, Bing Li, Sitao Wu, Vickie Hsuan, Qing Yang, Hailiang Hu, Xu-Feng Chen, Melissa Flowers, Shannon J McCall, John K Lee, Bryan A Smith, Jung Wook Park, Andrew S Goldstein, Qianben Wang, Matthew B Rettig, Andrew J Armstrong, Qing Cheng, Jiaoti Huang
Targeting cellular heterogeneity with CXCR2 blockade for the treatment of therapy-resistant prostate cancer. Science translational medicine 11 (521) (2020)
Jessica L Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S Hruska, Helio A Costa, Katherine Lachlan, Joanne Ngeow Yuen Yie, Jill Barnholtz-Sloan, Kaitlin Sesock, Felicia Hernandez, Liying Zhang, Laura Milko, Sharon E Plon, Madhuri Hegde, Charis Eng
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Human mutation 39 (11) (2019)
Julie Dutil, Jamie K Teer, Volha Golubeva, Sean Yoder, Wei Lue Tong, Nelly Arroyo, Rachid Karam, Miguel Echenique, Jaime L Matta, Alvaro N A Monteiro
Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico. Scientific reports 9 (1) (2019)
Kristy Lee, Kate Krempely, Maegan E Roberts, Michael J Anderson, Fátima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David Huntsman, Pardeep Kaurah, Chimene Kesserwan, Tyler Landrith, Shuwei Li, Arjen R Mensenkamp, Carla Oliveira, Carolina Pardo, Tina Pesaran, Matthew Richardson, Thomas P Slavin, Amanda B Spurdle, Mackenzie Trapp, Leora Witkowski, Charles S Yi, Liying Zhang, Sharon E Plon, Kasmintan A Schrader, Rachid Karam
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Human mutation 39 (11) (2019)
Wenbo Mu, Bing Li, Sitao Wu, Jefferey Chen, Divya Sain, Dong Xu, Mary Helen Black, Rachid Karam, Katrina Gillespie, Kelly D F Hagman, Lucia Guidugli, Melissa Pronold, Aaron Elliott, Hsiao-Mei Lu
Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing. Genetics in medicine : official journal of the American College of Medical Genetics 21 (7) (2018)
Kate Krempely, Rachid Karam
A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay. Cold Spring Harbor molecular case studies 4 (4) (2018)