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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 13, 2019
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
Human Mutation|October 13, 2018
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert PanelJessica L Mester, Rajarshi Ghosh, Tina Pesaran, et al.
Clinical Genetics|January 23, 2019
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotypeJessica A Radley, Rory B G O'Sullivan, Sarah E Turton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.
Journal of Medical Genetics|December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridiaHildegard Nikki Hall, David Parry, Mihail Halachev, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
American Journal of Medical Genetics. Part A|April 12, 2023
Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromesThomas W Frazier, Robyn M Busch, Patricia Klaas, et al.
Autism Research : Official Journal of the International Society for Autism Research|December 6, 2024
Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disabilityThomas W Frazier, Robyn M Busch, Patricia Klaas, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2023
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in <i>AFF3</i> as a significant cause of intellectual disabilityBharati Jadhav, Paras Garg, Joke J F A van Vugt, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.
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