Kim L. McBride - Publications, H-index & Citations

Kim L. McBride

University System of Ohio

38H指数

188论文数

5.3K被引数

收录论文 76

发表时间

Utility of genetic testing in heart transplant recipients: a systematic review and meta-analysis 遗传检测在心脏移植受者中的效用：一项系统评价和荟萃分析

Transplantation Reviews

IF2.5

2026-09-29

PREAI

Shokravi, Arveen; Bertelli, Michele; Mahon, Noelle; Archer, Lauren; Dauter, Andreas; Ballantyne, Brennan; Fine, Nowell; Howlett, Jonathan; Lyons, Kristin; Sharma, Nakul; Marcadier, Julien; McBride, Kim L.; Harper, Lea; Kiamanesh, Omid; Miller, Robert J. H.

Genetic Determinants of Early Heart Failure in Hypoplastic Left Heart Syndrome A Prospective NC-DEFINE Study 先心病左心发育不良综合征早期心力衰竭的遗传决定因素：一项前瞻性NC-DEFINE研究

JACC-JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

IF0

2026-09-01

PREAI

Balint, Brittany N.; Sunthankar, Sudeep D.; Monaco, Gabrielle; Bair, Courtney A.; Wolfe-Miller, Rachel; Gonzalez, Carla D.; Portillo, Cindy S. Argueta; MacKenzie, Duncan; Freedy, Katherine; Onorato, Angela C.; Greskovich, Sarah C.; Moreland, Blythe; Gaither, Jeff B.; Willoughby, Ava; Bigelow, Amee M.; McBride, Kim L.; Levin, Allison; Kurzlechner, Leonie M.; Kreinbrook, Judah; Ebangawese, Santita; Mitchell, Saige; Srour, Meredith; Macris, Sarah; Marusic, Sophia; Neuerburg, Austin; Farrell, Maureen C.; Carlson, Katherine; Sala, Angelina; Girvin, Zachary; Lancaster, Megan; Gangireddy, Srushti; Jaworski, James; Wei, Wei-Qi; Edwards, Todd; Coleman, Andersen; Turek, Joseph W.; Leong, Elisabeth; Chiswell, Karen; Allen, Andrew; Li, Jennifer S.; White, Peter; Kannankeril, Prince J.; Garg, Vidu; Hoffman, Timothy M.; Landstrom, Andrew P.

Rare Type 1 Collagen Variants in Early-Onset Bicuspid Aortic Valve Disease: Clinical and Genetic Overlap with Ehlers-Danlos Syndrome and Osteogenesis Imperfecta 早期二叶主动脉瓣疾病中的稀有I型胶原变体：与埃勒斯-当洛斯综合征和成骨不全症的表型及遗传重叠

Human Genetics and Genomics Advances

IF3.6

2026-05-20

OAAI

Sara Mansoorshahi; Catherina Tovar Pensa; Erin Carter; Anna Sabate-Rotes; Hector I. Michelena; Anji T. Yetman; Julie De Backer; Laura Muiño Mosquera; Malenka M. Bissell; Maria Grazia Andreassi; Ilenia Foffa; Dawn S. Hui; Anthony Caffarelli; Yuli Y. Kim; Rodolfo Citro; Margot De Marco; Justin T. Tretter; Kim L. McBride; Simon C. Body; Cathleen Raggio

Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease 与先天性心脏病临床报告拷贝数变异相关的长链非编码RNA候选疾病基因的鉴定

JOURNAL OF THE AMERICAN HEART ASSOCIATION

IF5.3

2025-03-18

OAAI

Penaloza, Jacqueline S.; Moreland, Blythe; Gaither, Jeffrey B.; Landis, Benjamin J.; Ware, Stephanie M.; Mcbride, Kim L.; White, Peter; CCVM Consortium

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)苯丙氨酸羟化酶缺乏症的诊断与管理：美国医学遗传学与基因组学学院（ACMG）2023年循证临床指南

GENETICS IN MEDICINE

IF6.2

2025-01-01

PREAI

Smith, Wendy E.; Berry, Susan A.; Bloom, Kaitlyn; Brown, Christine; Burton, Barbara K.; Demarest, Olivia M.; Jenkins, Gabrielle P.; Malinowski, Jennifer; Mcbride, Kim L.; Mroczkowski, H. Joel; Scharfe, Curt; Vockley, Jerry

Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve

HEART

IF4.4

2024-12-10

PREAI

Digregorio, Helene; Mansoorshahi, Sara; Carlisle, Steven G.; Pensa, Catherina Tovar; Watts, Abi; Mcneely, Courtney; Sabate-Rotes, Anna; Yetman, Anji; Michelena, Hector, I; De Backer, Julie F. A.; Mosquera, Laura Muino; Bissell, Malenka M.; Andreassi, Maria Grazia; Foffa, Ilenia; Hui, Dawn S.; Caffarelli, Anthony; Kim, Yuli Y.; Citro, Rodolfo; De Marco, Margot; Tretter, Justin T.; Mcbride, Kim L.; Body, Simon C.; Milewicz, Dianna M.; Prakash, Siddharth K.; EBAV Investigators

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2023-10-01

OAAI

Blue, Elizabeth E.; White, Janson J.; Dush, Michael K.; Gordon, William W.; Wyatt, Brent H.; White, Peter; Marvin, Colby T.; Helle, Emmi; Ojala, Tiina; Priest, James R.; Jenkins, Mary M.; Almli, Lynn M.; Reefhuis, Jennita; Pangilinan, Faith; Brody, Lawrence C.; McBride, Kim L.; Garg, Vidu; Shaw, Gary M.; Romitti, Paul A.; Nembhard, Wendy N.; Browne, Marilyn L.; Werler, Martha M.; Kay, Denise M.; Mital, Seema; Chong, Jessica X.; Nascone-Yoder, Nanette M.; Bamshad, Michael J.

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

JOURNAL OF THE AMERICAN HEART ASSOCIATION

IF5.3

2023-09-19

OAAI

Landis, Benjamin J.; Helvaty, Lindsey R.; Geddes, Gabrielle C.; Lin, Jiuann-Huey Ivy; Yatsenko, Svetlana A.; Lo, Cecilia W.; Border, William L.; Wechsler, Stephanie Burns; Murali, Chaya N.; Azamian, Mahshid S.; Lalani, Seema R.; Hinton, Robert B.; Garg, Vidu; McBride, Kim L.; Hodge, Jennelle C.; Ware, Stephanie M.

Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis

PEDIATRIC RESEARCH

IF3.1

2023-09-12

PREAI

Yasuhara, Jun; Manivannan, Sathiya N.; Majumdar, Uddalak; Gordon, David M.; Lawrence, Patrick J.; Aljuhani, Mona; Myers, Katherine; Stiver, Corey; Bigelow, Amee M.; Galantowicz, Mark; Yamagishi, Hiroyuki; Mcbride, Kim L.; White, Peter; Garg, Vidu

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return 涉及异常肺静脉回流的临床外显子组测序功效和表型扩展

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-09-07

PREAI

Huth, Emily A.; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N.; Vogel, Ida; Dorf, Inger L. H.; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J.; Louw, Jacoba J.; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y.; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B.; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S.; Rankin, Julia; Helvaty, Lindsey R.; Landis, Benjamin J.; Geddes, Gabrielle C.; McBride, Kim L.; Ware, Stephanie M.; Shaw, Chad A.; Lalani, Seema R.; Rosenfeld, Jill A.; Scott, Daryl A.

Interim results of Transpher A, a multicenter, single-dose clinical trial of UX111 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-01

PREAI

Flanigan, Kevin M.; Smith, Nicholas; Luz Couce, Maria; Rajan, Deepa; Truxal, Kristen; McBride, Kim L.; de Castro Lopez, Maria Jose; Fuller, Maria; Taylor, John; Del Campo, Ana B.; Grachev, Igor; Lau, Heather

Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease

JOURNAL OF CLINICAL MEDICINE

IF2.9

2022-12-28

OAAI

Melas, Marilena; Beltsios, Eleftherios T.; Adamou, Antonis; Koumarelas, Konstantinos; McBride, Kim L.

Germline Variant Interpretation in Children with Severe Sepsis

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2022-10-29

PREAI

Prince, Benjamin T.; Varga, Elizabeth A.; McBride, Kim L.

A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2022-09-01

OAAI

Mathew, Mariam T.; Antoniou, Austin; Ramesh, Naveen; Hu, Min; Gaither, Jeffrey; Mouhlas, Danielle; Hashimoto, Sayaka; Humphrey, Maggie; Matthews, Theodora; Hunter, Jesse M.; Reshmi, Shalini; Schultz, Matthew; Lee, Kristy; Pfau, Ruthann; Cottrell, Catherine; McBride, Kim L.; Navin, Nicholas E.; Chaudhari, Bimal P.; Leung, Marco L.

Cerebral organoids containing an AUTS2 missense variant model microcephaly

BRAIN

IF11.7

2022-07-08

OAAI

Fair, Summer R.; Schwind, Wesley; Julian, Dominic; Biel, Alecia; Guo, Gongbo; Rutherford, Ryan; Ramadesikan, Swetha; Westfall, Jesse; Miller, Katherine E.; Kararoudi, Meisam Naeimi; Hickey, Scott E.; Mosher, Theresa Mihalic; McBride, Kim L.; Neinast, Reid; Fitch, James; Lee, Dean; White, Peter; Wilson, Richard K.; Bedrosian, Tracy A.; Koboldt, Daniel C.; Hester, Mark E.

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

PLOS GENETICS

IF3.7

2022-06-23

OAAI

Gordon, David M.; Cunningham, David; Zender, Gloria; Lawrence, Patrick J.; Penaloza, Jacqueline S.; Lin, Hui; Fitzgerald-Butt, Sara M.; Myers, Katherine; Duong, Tiffany; Corsmeier, Donald J.; Gaither, Jeffrey B.; Kuck, Harkness C.; Wijeratne, Saranga; Moreland, Blythe; Kelly, Benjamin J.; Garg, Vidu; White, Peter; McBride, Kim L.

Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease

HEART RHYTHM

IF5.7

2022-04-01

OAAI

Bennett, Jeffrey S.; Gordon, David M.; Majumdar, Uddalak; Lawrence, Patrick J.; Matos-Nieves, Adrianna; Myers, Katherine; Kamp, Anna N.; Leonard, Julie C.; McBride, Kim L.; White, Peter; Garg, Vidu

Intrafamilial variability in chromosome 2q13 microdeletion: Case report and review of the literature

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Stone, Brandon; Savage, Sarah; McBride, Kim; Kaler, Stephen

Interim results of Transpher A, a multicentre, single-dose, phase 1/2 clinical trial of ABO-102 investigational gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-01

PREAI

Flanigan, Kevin M.; Smith, Nicholas J. N.; Couce, Maria L.; Escolar, Maria; Truxal, Kristen V.; McBride, Kim L.; de Castro, Maria J.; Fuller, Maria; Paneda, A.; Ruiz, J.; del Campo, A. B.; Grachev, I.

Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly

HUMAN MUTATION

IF3.7

2021-12-16

OAAI

Melas, Marilena; Kautto, Esko A.; Franklin, Samuel J.; Mori, Mari; McBride, Kim L.; Mosher, Theresa Mihalic; Pfau, Ruthann B.; Hernandez-Gonzalez, Maria Elena; McGrath, Sean D.; Magrini, Vincent J.; White, Peter; Samora, Julie Balch; Koboldt, Daniel C.; Wilson, Richard K.

研究方向