Carrie A. Lahner

Most-cited papers

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

   N. Boczek, Carrie A. Lahner, Thuy-mi P. Nguyen, M. Ferber +4 more

   2018American Journal of Medical Genetics. Part A44 citations

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

   J. Sörmann, Marcus Schewe, P. Proks, Thibault Jouen-Tachoire +26 more

   2022Nature Genetics26 citations Open access

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

   P. Blackburn, M. Schultz, Carrie A. Lahner, Dong Li +11 more

   2020Annals of Clinical and Translational Neurology15 citations Open access

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4. O16: Expanded germline cancer predisposition testing increases diagnostic yield across cancer types

   Q. Ding, Rhianna M. Urban, Megan F. H. Bishop, Megan A. Holdren +9 more

   2026Genetics in Medicine Open0 citations Open access

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5. Clinical and Genetic Characterization of Constitutional MLH1 Promoter Hypermethylation: Implications for Lynch Syndrome Diagnosis.

   Megan F. H. Bishop, Nisha Kanwar, L.E. Schefter, R. Lahr +13 more

   2026Genetics in Medicine0 citations

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

   J. Sörmann, Marcus Schewe, P. Proks, Thibault Jouen-Tachoire +26 more

   2021medRxiv0 citations Open access

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