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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 9, 2018
SLC35A2-related congenital disorder of glycosylation: Defining the phenotypeT Michael Yates, Mohnish Suri, Archana Desurkar, et al.Journal of Medical Genetics|October 6, 2018
PEHO syndrome: the endpoint of different genetic epilepsiesManali Chitre, Michael S Nahorski, Kaitlin Stouffer, et al.American Journal of Medical Genetics. Part A|March 3, 2012
Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndromeRoksana Armani, Hayley Archer, Angus Clarke, et al.Human Mutation|October 30, 2016
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe SyndromeJohn Rendu, Rodrick Montjean, Charles Coutton, et al.American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.Orphanet Journal of Rare Diseases|January 29, 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndromeMichelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, et al.Human Mutation|February 24, 2015
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesisDelfien Syx, Tim Van Damme, Sofie Symoens, et al.American Journal of Medical Genetics. Part A|March 3, 2004
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patientsOuti Mäkitie, Geert R Mortier, Malwina Czarny-Ratajczak, et al.Journal of Medical Genetics|December 29, 2022
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorderReza Maroofian, Stephanie Efthymiou, Mohnish Suri, et al.JIMD Reports|July 3, 2025
The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare VariantNuria Puente-Ruiz, Saru Palaniappan, Alison Woodall, et al.Pageof 16