KimLewisMcBrideMD

PubMed

• Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with congenital heart disease (CHD).
  Hui Lin, Shi-Qiao Ye, Zhao-Hui Xu, Jacqueline S Penaloza, Mona Aljuhani, Tatyana Vetter, Ming-Tao Zhao, Kim L McBride> ;Stem Cell Research. 2022 Dec 1
• 6 citations
  Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
  Marilena Melas, Esko A. Kautto, Samuel J Franklin, Mari Mori, Kim L. McBride, Theresa Mihalic Mosher, Ruthann B. Pfau, Maria Elena Hernandez-Gonzalez, Sean McGrath, Vi...> ;Human Mutation. 2021 Dec 2
• 4 citations
  Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
  Daniel K. Nolan, Bimal Chaudhari, Samuel J Franklin, Saranga Wijeratne, Ruthann Pfau, Theresa Mihalic Mosher, Erin Crist, Kim L. McBride, Peter White, Richard K. Wilso...> ;Clinical Genetics. 2021 Sep 3
• 16 citations
  Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
  Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona-Londoño, Karla A. Peña-Guerra, Yolande van Bever, ...> ;Genetics in Medicine. 2021 Aug 3
• A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.
  Laiken Peterson, Amy Siemon, Leah Olewiler, Kim L. McBride, Dawn C. Allain> ;Journal of Genetic Counseling. 2021 Jul 15
• 9 citations
  Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease
  Polakit Teekakirikul, Wenjuan Zhu, George C. Gabriel, Cullen B. Young, Kylia Williams, Lisa J. Martin, Jennifer C. Hill, Tara D. Richards, Marie Billaud, Julie A. Phil...> ;HGG Advances. 2021 Jul 8
• 2 citations
  Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB.
  Nicolas J. Abreu, Bhavani Selvaraj, Kristen V. Truxal, Melissa Moore-Clingenpeel, Nicholas Zumberge, Kelly A. McNally, Kim L. McBride, Mai-Lan Ho, Kevin M. Flanigan> ;Molecular Genetics and Metabolism. 2021 Apr 27
• Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
  Camila F. Almeida, Emma C. Frair, Nianyuan Huang, Reid Neinast, Kim L. McBride, Robert B. Weiss, Kevin M. Flanigan, Nicolas Wein> ;Journal of Visualized Experiments. 2021 Apr 3
• 21 citations
  POLRMT mutations impair mitochondrial transcription causing neurological disease.
  Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J Collier, Emily Hoberg, Viktor Strán...> ;Nature Communications. 2021 Feb 18
• 22 citations
  Update in the Mucopolysaccharidoses
  Kim L. McBride, Kevin M. Flanigan> ;Seminars in Pediatric Neurology. 2021 Feb 10
• 18 citations
  Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs)
  Hui Lin, Kim L. McBride, Vidu Garg, Ming-Tao Zhao> ;Frontiers in Cell and Developmental Biology. 2021 Jan 21
• 2 citations
  A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes.
  Adrianna Matos-Nieves, Sathiyanarayanan Manivannan, Uddalak Majumdar, Kim L. McBride, Peter White, Vidu Garg> ;Frontiers in Cardiovascular Medicine. 2021 Aug 24
• 5 citations
  Decellularized Bovine Pericardial Mitral Valve in a Neonatal Marfan Patient
  Clifford L. Cua, Adam Morrison, Kim L. McBride, Patrick I. McConnell> ;The Annals of Thoracic Surgery. 2020 Mar 6
• 7 citations
  Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Kim L. McBride, Susan A. Berry, Nancy Braverman> ;Genetics in Medicine. 2020 Aug 3
• 2 citations
  Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
  Daniel C. Koboldt, Scott E. Hickey, Bimal Chaudhari, Theresa Mihalic Mosher, Tracy A. Bedrosian, Erin Crist, Stephen G. Kaler, Kim L. McBride, Peter White, Richard K. ...> ;Cold Spring Harbor Molecular Case Studies. 2020 Jun 12
• 15 citations
  Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy
  Sathiya N. Manivannan, Sihem Darouich, Aida Masmoudi, David M Gordon, Gloria Zender, Zhe Han, Sara Fitzgerald-Butt, Peter White, Kim L. McBride, Maher Kharrat, Vidu Garg> ;Plos Genetics. 2020 May 26
• 29 citations
  Lessons learned from 40 novel PIGA patients and a review of the literature.
  Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Ch...> ;Epilepsia. 2020 May 26
• 2 citations
  A pediatric perspective on genomics and prevention in the twenty-first century
  Bimal Chaudhari, Kandamurugu Manickam, Kim L. McBride> ;Pediatric Research. 2020 Jan 1
• 4 citations
  Single nucleotide polymorphisms in the dual specificity phosphatase genes and risk of necrotizing enterocolitis in premature infant.
  Talavera Mm, Yi Jin, Erik Zmuda, Jessica Frick, Yusen Liu, Kim L. McBride, Leif D. Nelin, Jennifer K. Trittmann> ;Journal of Neonatal-Perinatal Medicine. 2020 Jan 1
• 1 citations
  Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
  Scott E. Hickey, Daniel C. Koboldt, Theresa Mihalic Mosher, Patrick J. Brennan, Beth A. Schmalz, Erin Crist, Kim L. McBride, Brent Adler, Peter White, Richard K. Wilson> ;Cold Spring Harbor Molecular Case Studies. 2019 Dec 13
• 24 citations
  Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
  Jeffrey S Bennett, Madison Bernhardt, Kim L. McBride, Shalini C. Reshmi, Erik Zmuda, Naomi J. Kertesz, Vidu Garg, Sara Fitzgerald-Butt, Anna Kamp> ;Pediatric Cardiology. 2019 Sep 18
• 11 citations
  Evaluation of biomarkers for Sanfilippo syndrome.
  Jennifer T. Saville, Kevin M. Flanigan, Kristen V. Truxal, Kim L. McBride, Maria Fuller> ;Molecular Genetics and Metabolism. 2019 Sep 1
• 7 citations
  Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
  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, Ri...> ;European Journal of Human Genetics. 2019 Jul 5
• 18 citations
  De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome.
  Elizabeth S. Barrie, Maria P. Alfaro, Ruthann Pfau, Melanie J. Goff, Kim L. McBride, Kandamurugu Manickam, Erik Zmuda> ;Cold Spring Harbor Molecular Case Studies. 2019 Aug 1
• Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Hershberger, R. E.,Givertz, M. M.,Ho, C. Y.,Judge, D. P.,Kantor, P. F.,McBride, K. L.,Morales, A.,Taylor, MRG.,Vatta, M.,Ware, S. M.> ;Genet. Med.. 2019 May 02
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Journal Articles

• Genetic Evaluation of Cardiomyopathy: A Clinical Practice Resource of the American College of Medical Genetics and Genomics (ACMG)  
  Kim L McBride, Stephanie M Ware, Ray E Hershberger, Michael M Givertz, Nature