Genetics of Early Onset Cognitive Impairment

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The prevalence of mental retardation: a critical review of recent literature

(2010) Nel Roeleveld et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Most very low birth weight subjects do well as adults

(2009) P-O Gäddlin et al.   ACTA PAEDIATRICA

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

(2009) Orianne Philippe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

(2009) Asif Mir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

(2009) Ganeshwaran H. Mochida et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization

(2009) Maja Hempel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

(2009) Fadi F. Hamdan et al.   ANNALS OF NEUROLOGY

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Copy number and sequence variants implicateAPBA2as an autism candidate gene

(2009) Timothy D. Babatz et al.   Autism Research

FMR1: A gene with three faces

(2009) Ben A Oostra et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Copy Number Variation in Schizophrenia in the Japanese Population

(2009) Masashi Ikeda et al.   BIOLOGICAL PSYCHIATRY

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Large-Scale Medical Resequencing for X-Linked Mental Retardation

(2009) Y. Shen et al.   CLINICAL CHEMISTRY

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

(2009) A-M Bisgaard et al.   CLINICAL GENETICS

Detection and validation of copy number variation in X-linked mental retardation

(2009) M. Bauters et al.   CYTOGENETIC AND GENOME RESEARCH

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

(2009) S. Goobie et al.   CYTOGENETIC AND GENOME RESEARCH

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

(2009) Martin Poot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

(2009) Ron Hochstenbach et al.   European Journal of Medical Genetics

Regulation of monoamine oxidase A by the SRY gene on the Y chromosome

(2009) Jason B. Wu et al.   FASEB JOURNAL

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

(2009) H. C. Mefford et al.   GENOME RESEARCH

Balanced translocations in mental retardation

(2009) Geert Vandeweyer et al.   HUMAN GENETICS

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

(2009) L. M. Dibbens et al.   HUMAN MOLECULAR GENETICS

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

(2009) J. Coppinger et al.   HUMAN MOLECULAR GENETICS

Mental retardation and inborn errors of metabolism

(2009) A. García-Cazorla et al.   JOURNAL OF INHERITED METABOLIC DISEASE

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

(2009) B Grisart et al.   JOURNAL OF MEDICAL GENETICS

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

(2009) M. A. Mencarelli et al.   JOURNAL OF MEDICAL GENETICS

Fragile X syndrome: from molecular genetics to therapy

(2009) C D'Hulst et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile

(2009) A. Antonell et al.   JOURNAL OF MEDICAL GENETICS

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

(2009) E Berry-Kravis et al.   JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

X-linked mental retardation: focus on synaptic function and plasticity

(2009) Yann Humeau et al.   JOURNAL OF NEUROCHEMISTRY

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

(2009) A Ingason et al.   MOLECULAR PSYCHIATRY

Let's celebrate human genetic diversity

(2009) Bruce T. Lahn et al.   NATURE

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

(2009) Nadia Bahi-Buisson et al.   NEUROGENETICS

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Distal Xq duplication and functional Xq disomy

(2009) Damien Sanlaville et al.   Orphanet Journal of Rare Diseases

Retards mentaux d’origine génétique

(2009) A. Goldenberg et al.   PATHOLOGIE BIOLOGIE

Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development

(2009) H. Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

(2008) Masoud Garshasbi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

(2008) J.A. Fantes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

(2008) Florence Molinari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

3q29 interstitial microduplication: A new syndrome in a three-generation family

(2008) Emily C. Lisi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sex dependent imprinting effects on complex traits in mice

(2008) Reinmar Hager et al.   BMC EVOLUTIONARY BIOLOGY

Genetics of intellectual disability

(2008) H Hilger Ropers   CURRENT OPINION IN GENETICS & DEVELOPMENT

A Direct Role for FMRP in Activity-Dependent Dendritic mRNA Transport Links Filopodial-Spine Morphogenesis to Fragile X Syndrome

(2008) Jason B. Dictenberg et al.   DEVELOPMENTAL CELL

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion

(2008) Claudia Torniero et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

XLMR genes: update 2007

(2008) Pietro Chiurazzi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

(2008) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

(2008) Ann-Britt Kiholm Lund et al.   European Journal of Medical Genetics

Clinical variability of the 22q11.2 duplication syndrome

(2008) Christian Wentzel et al.   European Journal of Medical Genetics

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

(2008) M. Bauters et al.   GENOME RESEARCH

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

Open-Label Treatment Trial of Lithium to Target the Underlying Defect in Fragile X Syndrome

(2008) Elizabeth Berry-Kravis et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

(2008) Kimberly L Stark et al.   NATURE GENETICS

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

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

(2008) Femke M.S. de Vrij et al.   NEUROBIOLOGY OF DISEASE

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

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

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deletion 22q13.3 syndrome

(2008) Mary C Phelan   Orphanet Journal of Rare Diseases

MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function

(2008) A. C. Barbosa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

(2008) Blake C Ballif et al.   Molecular Cytogenetics

Is Down Syndrome a Disappearing Birth Defect?

(2007) Veronica R. Collins et al.   JOURNAL OF PEDIATRICS

Consanguinity and its relevance to clinical genetics

(2003) AH Bittles   CLINICAL GENETICS