Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Reinforcing the association between distal1qCNVs and structural brain disorder: A case of a complex1q43-q44CNV and a review of the literature

(2016) Isabel A. Hemming et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

ARID1Bmutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

(2016) Cyril Mignot et al.   BRAIN

Further evidence thatde novomissense and truncating variants inZBTB18cause intellectual disability with variable features

(2016) J.S. Cohen et al.   CLINICAL GENETICS

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

(2016) Glen R. Monroe et al.   GENETICS IN MEDICINE

Identification of novel genetic causes of Rett syndrome-likephenotypes

(2016) Fátima Lopes et al.   JOURNAL OF MEDICAL GENETICS

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

(2016) Carolien G.F. de Kovel et al.   Molecular Genetics & Genomic Medicine

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

(2015) Mark Nellist et al.   MOLECULAR GENETICS AND METABOLISM

hnRNP U protein is required for normal pre-mRNA splicing and postnatal heart development and function

(2015) Junqiang Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phenotypes ofAKT3deletion: A case report and literature review

(2014) Dayu Gai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

(2014) Xiaonan Du et al.   BMC Medical Genetics

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including theAKT3gene

(2014) V. Conti et al.   CLINICAL GENETICS

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

Haploinsufficiency ofZNF238is associated with corpus callosum abnormalities in 1q44 deletions

(2013) Seth J. Perlman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: Causal or chance association

(2013) Rekha Gupta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Duplication ofAKT3as a cause of macrocephaly in duplication 1q43q44

(2013) David Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP

(2013) GHAYDA M. MIRZAA et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The Zinc Finger Transcription Factor RP58 Negatively Regulates Rnd2 for the Control of Neuronal Migration During Cerebral Cortical Development

(2013) Julian Ik-Tsen Heng et al.   CEREBRAL CORTEX

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

(2013) Sonja A de Munnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

(2013) Sarah Doss et al.   JOURNAL OF NEUROLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

(2012) Gaelle Thierry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development

(2012) V. Baubet et al.   DEVELOPMENT

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

(2012) Radek Szklarczyk et al.   HUMAN MOLECULAR GENETICS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion

(2011) C Xiang et al.   CELL DEATH AND DIFFERENTIATION

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

(2011) Sandesh C Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: Expansion of phenotypic spectrum

(2011) M.S. Zaki et al.   European Journal of Medical Genetics

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

(2011) Blake C. Ballif et al.   HUMAN GENETICS

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene

(2010) Almuth Caliebe et al.   European Journal of Medical Genetics

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS