Carrie A Lahner

Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2)

E. Thorland, Z. Niu, M. Ferber, 2018, American journal of medical genetics. Part A.

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

Elena B. Riel, M. Hurles, E. Carpenter, 2022, Nature Genetics.

Impact of integrated translational research on clinical exome sequencing

Michael T. Zimmermann, Gavin R. Oliver, Tammy M. McAllister, 2020, Genetics in Medicine.

Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea

Elena B. Riel, M. Hurles, E. Carpenter, 2021, medRxiv.

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

F. Alkuraya, P. Blackburn, M. Schultz, 2020, Annals of clinical and translational neurology.