Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy

The variation game: Cracking complex genetic disorders with NGS and omics data

(2015) Hongzhu Cui et al.   METHODS

Angelman Syndrome

(2015) Seth S. Margolis et al.   Neurotherapeutics

Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes

(2015) Louisa Kalsner et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Characterizing runs of homozygosity and their impact on risk for psychosis in a population isolate

(2014) Nadine M. Melhem et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

A recessive genetic model and runs of homozygosity in major depressive disorder

(2014) Robert A. Power et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

(2014) Guylaine D’Amours et al.   BMC Medical Genomics

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

(2014) Jia-Chi Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

(2014) Ilaria Gandin et al.   GENETICS IN MEDICINE

Epigenetics and imprinting in human disease

(2014) Jennifer M. Kalish et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

The role of genomic imprinting in biology and disease: an expanding view

(2014) Jo Peters   NATURE REVIEWS GENETICS

Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

(2014) Anand K. Srivastava et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

No evidence that runs of homozygosity are associated with schizophrenia in an Irish genome-wide association dataset

(2014) Elizabeth A. Heron et al.   SCHIZOPHRENIA RESEARCH

In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research

(2014) Ivan Y Iourov et al.   Molecular Cytogenetics

Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism

(2013) Ece D. Gamsiz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long Runs of Homozygosity Are Enriched for Deleterious Variation

(2013) Zachary A. Szpiech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetic Landscapes of Autism Spectrum Disorders

(2013) Guillaume Huguet et al.   Annual Review of Genomics and Human Genetics

Somatic Cell Genomics of Brain Disorders: A New Opportunity to Clarify Genetic-Environmental Interactions

(2013) I.Y. Iourov et al.   CYTOGENETIC AND GENOME RESEARCH

Epigenetics, Autism Spectrum, and Neurodevelopmental Disorders

(2013) Sampathkumar Rangasamy et al.   Neurotherapeutics

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

(2013) Yao-Shan Fan et al.   Molecular Cytogenetics

Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease

(2013) Ivan Y Iourov et al.   Molecular Cytogenetics

Genetic Basis of Intellectual Disability

(2012) Jay W. Ellison et al.   Annual Review of Medicine

Single Cell Genomics of the Brain: Focus on Neuronal Diversity and Neuropsychiatric Diseases

(2012) Ivan Y Iourov et al.   CURRENT GENOMICS

Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing

(2012) Lauren Grote et al.   GENETICS IN MEDICINE

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

(2012) Matthias Begemann 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

Genomics, Intellectual Disability, and Autism

(2012) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies

(2012) Ivan Y Iourov et al.   Molecular Cytogenetics

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

(2011) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Mechanisms of imprint dysregulation

(2010) Bernhard Horsthemke   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Genomic and Epigenomic Instability, Fragile Sites, Schizophrenia and Autism

(2010) Cassandra Smith et al.   CURRENT GENOMICS

Molecular Cytogenetic Diagnosis and Somatic Genome Variations

(2010) S. Vorsanova et al.   CURRENT GENOMICS

Regions of homozygosity and their impact on complex diseases and traits

(2010) Chee Seng Ku et al.   HUMAN GENETICS

Genomic Runs of Homozygosity Record Population History and Consanguinity

(2010) Mirna Kirin et al.   PLoS One

Cytogenetic contribution to uniparental disomy (UPD)

(2010) Thomas Liehr   Molecular Cytogenetics

Epigenetic influences on brain development and plasticity

(2009) Michela Fagiolini et al.   CURRENT OPINION IN NEUROBIOLOGY

Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain

(2009) Ivan Y. Iourov et al.   HUMAN MOLECULAR GENETICS

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Cytogenetics and Cytogenomics of Brain Diseases

(2008) I. Iourov et al.   CURRENT GENOMICS

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

(2008) D Bartholdi et al.   JOURNAL OF MEDICAL GENETICS

Chromosomal mosaicism goes global

(2008) Ivan Y Iourov et al.   Molecular Cytogenetics