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Journal of Clinical Medicine|May 14, 2022
Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader-Willi SyndromeRanim Mahmoud, Heidi D Swanson, Merlin G Butler, et al.American Journal of Medical Genetics. Part A|April 6, 2011
Nutritional phases in Prader-Willi syndromeJennifer L Miller, Christy H Lynn, Danielle C Driscoll, et al.American Journal of Medical Genetics. Part A|December 11, 2012
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletionKimberly A Aldinger, Jillene Kogan, Virginia Kimonis, et al.Journal of Translational Medicine|January 9, 2022
VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathyCheng Cheng, Lan Weiss, Henri Leinonen, et al.Orphanet Journal of Rare Diseases|October 25, 2022
Early embryonic lethality in complex I associated p.L104P Nubpl mutant miceCheng Cheng, James Cleak, Lan Weiss, et al.The Journal of Pharmacology and Experimental Therapeutics|May 1, 2021
A p97/Valosin-Containing Protein Inhibitor Drug CB-5083 Has a Potent but Reversible Off-Target Effect on Phosphodiesterase-6Henri Leinonen, Cheng Cheng, Marja Pitkänen, et al.Human Mutation|July 26, 2012
ALX4 gain-of-function mutations in nonsyndromic craniosynostosisGarima Yagnik, Apar Ghuman, Sundon Kim, et al.Journal of Medical Genetics|May 7, 2018
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort studyMerlin G Butler, Samantha N Hartin, Waheeda A Hossain, et al.Molecular Genetics and Metabolism Reports|January 13, 2021
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapyMarina Dutra-Clarke, Daisy Tapia, Emily Curtin, et al.Genetics in Medicine Open|December 13, 2024
A novel syndrome associated with prenatal fentanyl exposureErin Wadman, Erica Fernandes, Candace Muss, et al.Pageof 12