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European Journal of Medical Genetics|July 21, 2020
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansionRenee Carroll, Marie Shaw, Maria Arvio, et al.
American Journal of Medical Genetics. Part A|November 22, 2012
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1Christopher P Barnett, Justin J Mencel, Jozef Gecz, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|June 22, 2016
Age range for inclusion affects ascertainment by birth defects registersCatherine S Gibson, Heather Scott, Eric Haan, et al.
Developmental Neurorehabilitation|April 3, 2009
Upper limb orthoses and assistive technology utilization in children with hemiplegic cerebral palsy recruited from a population registerRemo Nunzio Russo, Renae Atkins, Eric Haan, et al.
F1000Research|February 9, 2022
Attitudes of healthy volunteers to genetic testing in phase 1 clinical trialsSebastian Levesque, Thomas M Polasek, Eric Haan, et al.
Journal of Paediatrics and Child Health|October 19, 2006
Diagnosis of foetal alcohol syndrome and alcohol use in pregnancy: a survey of paediatricians' knowledge, attitudes and practiceElizabeth J Elliott, Jan Payne, Eric Haan, et al.
Human Mutation|August 28, 2015
Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1Michael P Guy, Marie Shaw, Catherine L Weiner, et al.
Epilepsy Research|March 4, 2023
Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsyJoseph Sullivan, Boudewijn Gunning, Muhammad Zafar, et al.
Trends in Genetics : TIG|June 13, 2003
Nonsyndromic X-linked mental retardation: where are the missing mutations?Hans-Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, et al.
Human Molecular Genetics|July 16, 2020
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networksDeepti Domingo, Urwah Nawaz, Mark Corbett, et al.
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