Published in Am J Med Genet A on January 13, 2012
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Four amino acids within a tandem QxVx repeat in a predicted extended α-helix of the Smad-binding domain of Sip1 are necessary for binding to activated Smad proteins. PLoS One (2013) 0.78
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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet (2007) 4.20
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Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet (2005) 2.17
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet (2010) 2.14
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
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ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat (2007) 1.55
Oxidative pathways as a drug target for the treatment of autism. Expert Opin Ther Targets (2010) 1.51
Psychopathology in young people with intellectual disability. JAMA (2006) 1.48
Building capacity for evidence informed decision making in public health: a case study of organizational change. BMC Public Health (2012) 1.44
Chromosome microarray in Australia: a guide for paediatricians. J Paediatr Child Health (2012) 1.40
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet (2009) 1.39
Hormones, mood, sexuality, and the menopausal transition. Fertil Steril (2002) 1.39
The ReSTAGE Collaboration: defining optimal bleeding criteria for onset of early menopausal transition. Fertil Steril (2007) 1.28
Visuospatial processing and the function of prefrontal-parietal networks in autism spectrum disorders: a functional MRI study. Am J Psychiatry (2006) 1.26
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat (2013) 1.23
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet (2008) 1.20
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat (2013) 1.17
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet (2012) 1.17
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat (2012) 1.15
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet (2011) 1.15
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Ann Neurol (2008) 1.14
Spinal cord injury and mental health. Aust N Z J Psychiatry (2008) 1.13
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet (2009) 1.11
The Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R): a scale to assist the diagnosis of Autism Spectrum Disorder in adults: an international validation study. J Autism Dev Disord (2011) 1.09
The value of follicle-stimulating hormone concentration and clinical findings as markers of the late menopausal transition. J Clin Endocrinol Metab (2006) 1.07
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet (2002) 1.04
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. Eur J Hum Genet (2012) 1.02
Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia. Blood Cells Mol Dis (2010) 1.01
The normative development of emotion regulation strategy use in children and adolescents: a 2-year follow-up study. J Child Psychol Psychiatry (2009) 1.00
The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health (2010) 0.95
The Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA): a psychometric evaluation. Psychol Assess (2011) 0.95
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat (2008) 0.94
Children should be seen and heard: self-report of feelings and behaviors in primary-school-age children with ADHD. J Atten Disord (2006) 0.93
The mental health of young children with intellectual disabilities or borderline intellectual functioning. Soc Psychiatry Psychiatr Epidemiol (2009) 0.93
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Am J Med Genet A (2003) 0.93
What constitutes cerebral palsy in the twenty-first century? Dev Med Child Neurol (2013) 0.92
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. Hum Mol Genet (2013) 0.90
Mortality in Prader-Willi syndrome. Am J Ment Retard (2006) 0.90
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. Am J Med Genet A (2005) 0.89
Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability. Am J Med Genet A (2013) 0.89
Three patients with terminal deletions within the subtelomeric region of chromosome 9q. Am J Med Genet A (2005) 0.89
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CHARGE syndrome: a review. J Paediatr Child Health (2014) 0.88
Greater disruption to control of voluntary saccades in autistic disorder than Asperger's disorder: evidence for greater cerebellar involvement in autism? Cerebellum (2011) 0.88
Motor proficiency and emotional/behavioural disturbance in autism and Asperger's disorder: another piece of the neurological puzzle? Autism (2011) 0.88
Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. Thromb Haemost (2007) 0.88
Trajectory of behavior and emotional problems in autism. Am J Intellect Dev Disabil (2012) 0.87
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. Am J Med Genet A (2005) 0.87
Introducing the National Collaborating Centres for Public Health. CMAJ (2006) 0.86
Neuropsychological deficits in adolescent unipolar depression. Arch Clin Neuropsychol (2011) 0.86
A closer look at visually guided saccades in autism and Asperger's disorder. Front Integr Neurosci (2012) 0.86
Developing knowledge translation capacity in public health: the role of the National Collaborating Centres. Can J Public Health (2007) 0.86
Cost-effectiveness of cognitive behavioural therapy and selective serotonin reuptake inhibitors for major depression in children and adolescents. Aust N Z J Psychiatry (2004) 0.85
"Are you available for the next 18 months?" - methods and aims of a longitudinal birth cohort study investigating a universal developmental surveillance program: the 'Watch Me Grow' study. BMC Pediatr (2014) 0.85
New directions in health care and disability: the need for a shared understanding of human functioning. Aust N Z J Public Health (2012) 0.84
Motivational interviewing and cognitive behaviour therapy for anxiety following traumatic brain injury: a pilot randomised controlled trial. Neuropsychol Rehabil (2012) 0.84
Creating an organizational culture for evidence-informed decision making. Healthc Manage Forum (2012) 0.83
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. Am J Med Genet A (2012) 0.83
Predictors of the persistence of conduct difficulties in children with cognitive delay. J Child Psychol Psychiatry (2011) 0.83
An Australian tuberous sclerosis cohort: are surveillance guidelines being met? J Paediatr Child Health (2011) 0.83
Relationship between family quality of life and day occupations of young people with Down syndrome. Soc Psychiatry Psychiatr Epidemiol (2014) 0.83
The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. Br J Haematol (2006) 0.82
Could head circumference be used to screen for autism in young males with developmental delay? J Paediatr Child Health (2011) 0.82
Outcome of adolescent depression: 6 months after treatment. Aust N Z J Psychiatry (2010) 0.82
A randomized crossover trial to study the effect of personalized, one-to-one interaction using Montessori-based activities on agitation, affect, and engagement in nursing home residents with Dementia. Int Psychogeriatr (2012) 0.82
A comprehensive scoping review of ability and disability in ADHD using the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY). Eur Child Adolesc Psychiatry (2015) 0.82
Persistent sleep disturbance is associated with treatment response in adolescents with depression. Aust N Z J Psychiatry (2013) 0.81
Evolution of Symptoms and Syndromes of Psychopathology in Young People with Mental Retardation. Int Rev Res Ment Retard (2006) 0.81
When should GPs prescribe SSRIs for adolescent depression? Aust Fam Physician (2004) 0.81
Randomized controlled trial of light therapy for fatigue following traumatic brain injury. Neurorehabil Neural Repair (2013) 0.80
A double-blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome. Am J Med Genet A (2014) 0.80
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Am J Med Genet C Semin Med Genet (2014) 0.80
Routine outcome measurement in mental health: feasibility for examining effectiveness of an NGO. Australas Psychiatry (2010) 0.80
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome. Mitochondrion (2010) 0.80
A model for play-based intervention for children with ADHD. Aust Occup Ther J (2009) 0.80
Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome. BMC Psychiatry (2014) 0.79
Reflecting on subjective well-being and spinal cord injury. J Rehabil Med (2009) 0.79
Attentional blink in young people with high-functioning autism and Asperger's disorder. Autism (2009) 0.79
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. Clin Dysmorphol (2008) 0.79
Recombinant parathyroid hormone therapy for severe neonatal hypoparathyroidism. J Pediatr (2011) 0.79
Australian Paediatric Surveillance Unit study of haemoglobinopathies in Australian children. J Paediatr Child Health (2011) 0.78
Factor structure of the developmental behavior checklist using confirmatory factor analysis of polytomous items. J Appl Meas (2008) 0.78
Towards the prevention of behavioural and psychiatric disorders in people with intellectual disabilities. J Appl Res Intellect Disabil (2013) 0.77
Duodenal atresia: consider Feingold syndrome. J Paediatr Child Health (2010) 0.77
The Self-Efficacy Questionnaire for Depressed Adolescents: a measure to predict the course of depression in depressed youth. Aust N Z J Psychiatry (2012) 0.77
Lexical processing in individuals with high-functioning autism and Asperger's disorder. Autism (2011) 0.77