Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

(2012) Tjitske Kleefstra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature

(2012) Mitsuo Motobayashi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic variability of atypical 22q11.2 deletions not includingTBX1

(2012) Judith M.A. Verhagen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Development, cognition, and behaviour in Pitt-Hopkins syndrome

(2012) INGRID D C VAN BALKOM et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(2012) Colby Chiang et al.   NATURE GENETICS

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

(2011) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

(2011) Brian H.Y. Chung et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Physical health problems in adults with Prader-Willi syndrome

(2011) Margje Sinnema et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe intellectual disability and autistic features associated with microduplication 2q23.1

(2011) Brian HY Chung et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

(2011) Grace J. Noh et al.   European Journal of Medical Genetics

Ophthalmic findings in Angelman syndrome

(2011) Paola Michieletto et al.   JOURNAL OF AAPOS

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Clinical and genetic aspects of Angelman syndrome

(2010) Charles A Williams et al.   GENETICS IN MEDICINE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

The Human Proteins MBD5 and MBD6 Associate with Heterochromatin but They Do Not Bind Methylated DNA

(2010) Sophie Laget et al.   PLoS One

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

DNA methylation and methyl-CpG binding proteins: developmental requirements and function

(2009) Ozren Bogdanović et al.   CHROMOSOMA

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

(2009) Bregje WM van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures

(2009) Stephen R Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

(2009) T Kleefstra et al.   JOURNAL OF MEDICAL GENETICS

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

(2009) Jill A. Rosenfeld et al.   PLoS One

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

(2008) S Jaillard et al.   JOURNAL OF MEDICAL GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE