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A copy number variation morbidity map of developmental delay

Nature genetics, 2011-09, Vol.43 (9), p.838-846

2011

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Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions

European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1240-1247

2012

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nature genetics, 2008-12, Vol.40 (12), p.1466-1471

2008

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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Human mutation, 2012-04, Vol.33 (4), p.728-740

2012

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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Genetics in medicine, 2010-10, Vol.12 (10), p.641-647

2010

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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Genome medicine, 2019-04, Vol.11 (1), p.25-25, Article 25

2019

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Phenotypic manifestations of copy number variation in chromosome 16p13.11

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.280-286

2011

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Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

Human genetics, 2015-11, Vol.134 (11-12), p.1163-1182

2015

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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

European journal of human genetics : EJHG, 2014-09, Vol.22 (9), p.1071-1076

2014

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The complex behavioral phenotype of 15q13.3 microdeletion syndrome

Genetics in medicine, 2016-11, Vol.18 (11), p.1111-1118

2016

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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

European journal of human genetics : EJHG, 2015-01, Vol.23 (1), p.54-60

2015

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A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2607-2612

2014

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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Human molecular genetics, 2012-08, Vol.21 (15), p.3345-3355

2012

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Identification of novel candidate disease genes from de novo exonic copy number variants

Genome medicine, 2017-09, Vol.9 (1), p.83-83, Article 83

2017

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MECP2 duplications in six patients with complex sex chromosome rearrangements

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.409-415

2011

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Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1951-1959

2010

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Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

Neurogenetics, 2012-11, Vol.13 (4), p.333-339

2012

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MECP2 duplications in six patients with complex sex chromosome rearrangements

European journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1110-1110

2011

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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

BMC medical genetics, 2012-08, Vol.13 (1), p.71-71, Article 71

2012

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A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation

American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.1196-1201

2011

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The subtle facial signs of prenatal exposure to alcohol: An anthropometric approach

The Journal of pediatrics, 2001-08, Vol.139 (2), p.215-219

2001

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Below-one-volt organic thin-film transistors with large on/off current ratios

Organic electronics, 2017-10, Vol.49, p.179-186

2017

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Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability

Clinical genetics, 2019-10, Vol.96 (4), p.354-358

2019

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A copy number variation morbidity map of developmental delay

Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

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

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

The complex behavioral phenotype of 15q13.3 microdeletion syndrome

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Identification of novel candidate disease genes from de novo exonic copy number variants

MECP2 duplications in six patients with complex sex chromosome rearrangements

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

MECP2 duplications in six patients with complex sex chromosome rearrangements

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation

The subtle facial signs of prenatal exposure to alcohol: An anthropometric approach

Below-one-volt organic thin-film transistors with large on/off current ratios

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability

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