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Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, 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.
European Journal of Human Genetics : EJHG|December 1, 2011
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka, Ratna Veeramachaneni, William Reardon, 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.
Nature Genetics|September 23, 2024
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disabilityBharati Jadhav, Paras Garg, Joke J F A van Vugt, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 3, 2023
Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromesThomas W Frazier, Robyn M Busch, Patricia Klaas, et al.
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