Kim L McBride

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 11

Top Topics

Mitochondrial Dna

Hypertrophic Cardiomyopathy

Top Venues

Journal of clinical medicine

American journal of medical genetics. Part A

European journal of human genetics : EJHG

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

Publications

Steven G Carlisle, Hasan Albasha, Hector I Michelena, Anna Sabate-Rotes, Lisa Bianco, Julie De Backer, Laura Muiño Mosquera, Anji T Yetman, Malenka M Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S Hui, Anthony Caffarelli, Yuli Y Kim, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T Tretter, Kim L McBride, Dianna M Milewicz, Simon C Body, Siddharth K Prakash, null null, null null
Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve. PloS one 19 (9) (2024)
Benjamin J Landis, Lindsey R Helvaty, Gabrielle C Geddes, Jiuann-Huey Ivy Lin, Svetlana A Yatsenko, Cecelia W Lo, William L Border, Stephanie Burns Wechsler, Chaya N Murali, Mahshid S Azamian, Seema R Lalani, Robert B Hinton, Vidu Garg, Kim L McBride, Jennelle C Hodge, Stephanie M Ware
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease. Journal of the American Heart Association (2023)
Marilena Melas, Eleftherios T Beltsios, Antonis Adamou, Konstantinos Koumarelas, Kim L McBride
Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease. Journal of clinical medicine 12 (1) (2022)
Marilena Melas, Eleftherios T Beltsios, Antonis Adamou, Konstantinos Koumarelas, Kim L McBride
Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease. Journal of clinical medicine 12 (1) (2022)
Marilena Melas, Eleftherios T Beltsios, Antonis Adamou, Konstantinos Koumarelas, Kim L McBride
Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease. Journal of clinical medicine 12 (1) (2022)
David M Gordon, David Cunningham, Gloria Zender, Patrick J Lawrence, Jacqueline S Penaloza, Hui Lin, Sara M Fitzgerald-Butt, Katherine Myers, Tiffany Duong, Donald J Corsmeier, Jeffrey B Gaither, Harkness C Kuck, Saranga Wijeratne, Blythe Moreland, Benjamin J Kelly, null null, Vidu Garg, Peter White, Kim L McBride
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery. PLoS genetics 18 (6) (2022)
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W Sommerville, Emma L Blakely, Jack J Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J Bleyer, Kim L McBride, Sasigarn A Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A Tarnopolsky, Lauren I Brady, K Nicole Weaver, Carlos E Prada, Katrin Õunap, Monica H Wojcik, Sander Pajusalu, Safoora B Syeda, Lynn Pais, Elicia A Estrella, Christine C Bruels, Louis M Kunkel, Peter B Kang, Penelope E Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S Gorman, Maria Falkenberg, Claes M Gustafsson, Robert W Taylor
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nature communications 12 (1) (2021)
Sathiyanarayanan Manivannan, Sihem Darouich, Aida Masmoudi, David M Gordon, Gloria Zender, Zhe Han, Sara M Fitzgerald-Butt, Peter White, Kim L McBride, Maher Kharrat, Vidu Garg
Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. PLoS genetics 16 (5) (2020)
Theresa Mihalic Mosher, Deborah A Zygmunt, Daniel C Koboldt, Benjamin J Kelly, Lisa R Johnson, David S McKenna, Benjamin C Hood, Scott E Hickey, Peter White, Richard K Wilson, Paul T Martin, Kim L McBride
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. European journal of human genetics : EJHG 27 (10) (2019)
Neil A Hanchard, Luis A Umana, Lisa D'Alessandro, Mahshid Azamian, Mojisola Poopola, Shaine A Morris, Susan Fernbach, Seema R Lalani, Jeffrey A Towbin, Gloria A Zender, Sara Fitzgerald-Butt, Vidu Garg, Jessica Bowman, Gladys Zapata, Patricia Hernandez, Cammon B Arrington, Dieter Furthner, Siddharth K Prakash, Neil E Bowles, Kim L McBride, John W Belmont
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. American journal of medical genetics. Part A 173 (8) (2017)
Lohith Vatti, Sara M Fitzgerald-Butt, Kim L McBride
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. American journal of medical genetics. Part A 173 (11) (2017)