Elizabeth K Baker

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 7

Top Topics

Intellectual Disability

Dna Methylation

Autism Spectrum Disorder

Top Venues

American journal of medical genetics. Part A

Cardiology in the young

Molecular cytogenetics

Molecular genetics and genomics : MGG

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

Publications

Elizabeth K Baker
Blonde hair, blue eyes. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Elizabeth K Baker, Amy Shikany, David S Winlaw, Kathryn Nicole Weaver
Phenotypes and genotypes in a cohort of children with single-ventricle CHD. Cardiology in the young (2023)
Elizabeth K Baker, Jingfen Han, William A Langley, Michael A Reott, Barbara E Hallinan, Robert J Hopkin, Wenying Zhang
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature. Molecular genetics and genomics : MGG (2023)
Elizabeth K Baker, Faris N Al Gharaibeh, Kevin Bove, Maria A Calvo-Garcia, Amelle Shillington, Katherine VandenHeuvel, DonnaMaria E Cortezzo
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease. American journal of medical genetics. Part A (2023)
Elizabeth K Baker, Casey J Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M Wied, Beth M Kline-Fath, Teresa A Smolarek, Kathryn Nicole Weaver, Robert J Hopkin
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. American journal of medical genetics. Part A (2022)
Xiaolin Hu, Elizabeth K Baker, Jodie Johnson, Stephanie Balow, Loren D M Pena, Laura K Conlin, Qiaoning Guan, Teresa A Smolarek
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. Molecular cytogenetics 15 (1) (2022)
Elizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, Laura Ann Cross, Bonnie Sullivan, Annick Raas-Rothschild, Odelia Chorin, Ortal Barel, Omer Bar-Yosef, Ammar Husami, Robert J Hopkin, Carlos E Prada, Rolf W Stottmann, Kathryn Nicole Weaver
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. American journal of medical genetics. Part A 188 (11) (2022)