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American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
Brain : a Journal of Neurology|April 19, 2018
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsyAnna Fassio, Alessandro Esposito, Mitsuhiro Kato, et al.
Epigenomics|October 3, 2017
Exploring genome-wide DNA methylation patterns in Aicardi syndromeIgnazio S Piras, Gabrielle Mills, Lorida Llaci, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
Neurology. Genetics|September 8, 2016
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patientsJohn J Millichap, Kristen L Park, Tammy Tsuchida, et al.
Cells|July 6, 2023
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental DisordersEric Frankel, Avijit Podder, Megan Sharifi, et al.
Clinical Genetics|April 9, 2020
Primrose syndrome: Characterization of the phenotype in 42 patientsDaniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, et al.
Genome Medicine|October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseasesFrancisco M De La Vega, Shimul Chowdhury, Barry Moore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2021
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotypePaolo Zanoni, Katharina Steindl, Deepanwita Sengupta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2016
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsChun-An Chen, Daniëlle G M Bosch, Megan T Cho, et al.
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