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Plos Genetics|December 16, 2016
Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like SyndromeDamien F Hudson, David J Amor, Amber Boys, et al.
Developmental Medicine and Child Neurology|July 7, 2023
Causation in cerebral palsy: Parental beliefs and associated emotionsRenée Smyth, Susan M Reid, Kate Paton, et al.
Molecular Psychiatry|February 17, 2024
Genetic architecture of childhood speech disorder: a reviewAngela T Morgan, David J Amor, Miya D St John, et al.
European Journal of Human Genetics : EJHG|December 9, 2024
Parental attitudes and experiences in pursuing genetic testing for their child's motor speech disorderChristy Atkinson, Yong Quan Lee, Mariana L Lauretta, et al.
BMC Pediatrics|October 11, 2021
Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort studyLisa Hui, Cecilia Pynaker, Joanne Kennedy, et al.
BMC Pediatrics|August 22, 2024
Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort studyCecilia Pynaker, Jacqui McCoy, Jane Halliday, et al.
European Journal of Medical Genetics|September 24, 2009
4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairmentAlison Yeung, Damien Bruno, Ingrid E Scheffer, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|November 26, 2009
Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, AustraliaTiong Yang Tan, David J Amor, Merilyn Riley, et al.
JIMD Reports|November 18, 2020
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literatureJoy Yaplito-Lee, Gautham Pai, Winita Hardikar, et al.
European Journal of Human Genetics : EJHG|December 9, 2020
Speech and language phenotype in Phelan-McDermid (22q13.3) syndromeAmanda Brignell, Conway Gu, Alison Holm, et al.
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