Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women.

por McBride, Kim L, Pluciniczak, Jill, Rhyand, Timothy, Bartholomew, Dennis
Publicado 2019

Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs)

por Lin, Hui, McBride, Kim L., Garg, Vidu, Zhao, Ming-Tao
Publicado 2021

Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome

por Bowden, Sasigarn A., Patel, Hiren P., Beebe, Allan, McBride, Kim L.
Publicado 2013

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

por Melas, Marilena, Beltsios, Eleftherios T., Adamou, Antonis, Koumarelas, Konstantinos, McBride, Kim L.
Publicado 2022

A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes

por Matos-Nieves, Adrianna, Manivannan, Sathiyanarayanan, Majumdar, Uddalak, McBride, Kim L., White, Peter, Garg, Vidu
Publicado 2021

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

por Bonachea, Elizabeth M, Zender, Gloria, White, Peter, Corsmeier, Don, Newsom, David, Fitzgerald-Butt, Sara, Garg, Vidu, McBride, Kim L
Publicado 2014

De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf–Hirschhorn syndrome

por Barrie, Elizabeth S., Alfaro, Maria P., Pfau, Ruthann B., Goff, Melanie J., McBride, Kim L., Manickam, Kandamurugu, Zmuda, Erik J.
Publicado 2019

Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases

por Koenig, Mary Kay, Russo, Sam Nick, McBride, Kim L., Bjornsson, Hans Tomas, Gunnarsdottir, Brynja Bjork, Goldstein, Amy, Falk, Scott A.
Publicado 2022

Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with congenital heart disease (CHD)

por Lin, Hui, Ye, Shi-Qiao, Xu, Zhao-Hui, Penaloza, Jacqueline S., Aljuhani, Mona, Vetter, Tatyana, Zhao, Ming-Tao, McBride, Kim L.
Publicado 2022

Characterization of an iPSC line NCHi006-A from a patient with hypoplastic left heart syndrome (HLHS)

por Alonzo, Matthew, Contreras, Javier, Ye, Shiqiao, Lin, Hui, Hernandez-Rosario, Lumariz, McBride, Kim L., Texter, Karen, Garg, Vidu, Zhao, Ming-Tao
Publicado 2022

Generation of an induced pluripotent stem cell line NCHi003-A from a 11-year-old male with pulmonary atresia with intact ventricular septum (PA-IVS)

por Contreras, Javier, Alonzo, Matthew, Ye, Shiqiao, Lin, Hui, Hernandez-Rosario, Lumariz, McBride, Kim L., Texter, Karen, Garg, Vidu, Zhao, Ming-Tao
Publicado 2022

Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure

por Wood, Jill, Siedman, Stuart, Siedman, Jennifer, Levy, Paul, Brown, Kyle, McBride, Kim, Flanigan, Kevin, Marques, Raquel, Feldman, Arleta, PleHcha, Robert, Ekins, Sean
Publicado 2014

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome

por Koboldt, Daniel C., Mihalic Mosher, Theresa, Kelly, Benjamin J., Sites, Emily, Bartholomew, Dennis, Hickey, Scott E., McBride, Kim, Wilson, Richard K., White, Peter
Publicado 2018

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

por Manivannan, Sathiya N., Darouich, Sihem, Masmoudi, Aida, Gordon, David, Zender, Gloria, Han, Zhe, Fitzgerald-Butt, Sara, White, Peter, McBride, Kim L., Kharrat, Maher, Garg, Vidu
Publicado 2020

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach

por Hinton, Robert B., McBride, Kim L., Bleyl, Steven B., Bowles, Neil E., Border, William L., Garg, Vidu, Smolarek, Teresa A., Lalani, Seema R., Ware, Stephanie M.
Publicado 2015

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

por Koboldt, Daniel C., Hickey, Scott E., Chaudhari, Bimal P., Mihalic Mosher, Theresa, Bedrosian, Tracy, Crist, Erin, Kaler, Stephen G., McBride, Kim, White, Peter, Wilson, Richard K.
Publicado 2020

Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree

por Hickey, Scott E., Koboldt, Daniel C., Mosher, Theresa Mihalic, Brennan, Patrick, Schmalz, Beth A., Crist, Erin, McBride, Kim L., Adler, Brent H., White, Peter, Wilson, Richard K.
Publicado 2019

Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell lines

por Almeida, Camila F., Robriquet, Florence, Vetter, Tatyana A., Huang, Nianyuan, Neinast, Reid, Hernandez-Rosario, Lumariz, Rajakumar, Dhanarajan, Arnold, W. David, McBride, Kim L., Flanigan, Kevin M., Weiss, Robert B., Wein, Nicolas
Publicado 2023

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease

por Ramadesikan, Swetha, Hickey, Scott, De Los Reyes, Emily, Patel, Anup D., Franklin, Samuel J., Brennan, Patrick, Crist, Erin, Lee, Kristy, White, Peter, McBride, Kim L., Koboldt, Daniel C., Wilson, Richard K.
Publicado 2022

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

por Koboldt, Daniel C., Kastury, Rama D., Waldrop, Megan A., Kelly, Benjamin J., Mosher, Theresa Mihalic, McLaughlin, Heather, Corsmeier, Don, Slaughter, Jonathan L., Flanigan, Kevin M., McBride, Kim L., Mehta, Lakshmi, Wilson, Richard K., White, Peter
Publicado 2018