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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.
American Journal of Medical Genetics. Part A|April 23, 2020
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature reviewAnna Durkin, Shadi Albaba, Andrew E Fry, et al.
Pediatrics|August 6, 2014
Changes over time in sex assignment for disorders of sex developmentZofia Kolesinska, S Faisal Ahmed, Marek Niedziela, et al.
Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Clinical Genetics|April 9, 2020
Primrose syndrome: Characterization of the phenotype in 42 patientsDaniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, et al.
Human Genetics|February 22, 2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesFabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al.
Disease Models & Mechanisms|November 11, 2025
Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndromePriyanka Tibarewal, Victoria Rathbone, Sarah E Conduit, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 14, 2019
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.
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