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The Journal of Clinical Endocrinology and Metabolism|September 2, 2011
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1Yee-Ming Chan, Sarabeth Broder-Fingert, Sophia Paraschos, et al.Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.The New England Journal of Medicine|August 11, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone MigalastatDominique P Germain, Derralynn A Hughes, Kathleen Nicholls, et al.Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.American Journal of Human Genetics|April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Débora Romeo Bertola, Asako Takanohashi, et al.Journal of Pediatric Gastroenterology and Nutrition|July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in GermanyDominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.Pageof 27