MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

Genes Related to Oxytocin and Arginine-Vasopressin Pathways: Associations with Autism Spectrum Disorders

(2017) Rong Zhang et al.   Neuroscience Bulletin

Varying Intolerance of Gene Pathways to Mutational Classes Explain Genetic Convergence across Neuropsychiatric Disorders

(2017) Shahar Shohat et al.   Cell Reports

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

(2016) Paul R. Kasher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Obesity in adults with 22q11.2 deletion syndrome

(2016) Sarah L. Voll et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update

(2016) Maxim V. Kuleshov et al.   NUCLEIC ACIDS RESEARCH

De novo genic mutations among a Chinese autism spectrum disorder cohort

(2016) Tianyun Wang et al.   Nature Communications

MyT1 Counteracts the Neural Progenitor Program to Promote Vertebrate Neurogenesis

(2016) Francisca F. Vasconcelos et al.   Cell Reports

Peripheral oxytocin treatment ameliorates obesity by reducing food intake and visceral fat mass

(2016) Yuko Maejima et al.   Aging-US

The Hunger Genes: Pathways to Obesity

(2015) Agatha A. van der Klaauw et al.   CELL

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

(2015) Nara Sobreira et al.   HUMAN MUTATION

Deletions and de novo mutations ofSOX11are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

(2015) Annmarie Hempel et al.   JOURNAL OF MEDICAL GENETICS

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Coexpression analysis of nine neuropeptides in the neurosecretory preoptic area of larval zebrafish

(2015) Ulrich Herget et al.   Frontiers in Neuroanatomy

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

(2014) Nina De Rocker et al.   GENETICS IN MEDICINE

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

(2014) Maria Bonaglia et al.   Molecular Cytogenetics

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

(2013) Martine Doco-Fenzy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Structural Analysis of DNA Binding by Myelin Transcription Factor 1 Double Zinc Fingers

(2013) Roland Gamsjaeger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

(2013) Shwetha Ramachandrappa et al.   JOURNAL OF CLINICAL INVESTIGATION

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

From neural development to cognition: unexpected roles for chromatin

(2013) Jehnna L. Ronan et al.   NATURE REVIEWS GENETICS

Mitigation of Sociocommunicational Deficits of Autism Through Oxytocin-Induced Recovery of Medial Prefrontal Activity

(2013) Takamitsu Watanabe et al.   JAMA Psychiatry

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

(2012) M Rio et al.   CLINICAL GENETICS

An anatomically comprehensive atlas of the adult human brain transcriptome

(2012) Michael J. Hawrylycz et al.   NATURE

Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

(2011) Kamron Khan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

(2011) Servi J.C. Stevens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Smith–Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways

(2011) Sarah H. Elsea et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Postnatal Sim1 Deficiency Causes Hyperphagic Obesity and Reduced Mc4r and Oxytocin Expression

(2010) K. P. Tolson et al.   JOURNAL OF NEUROSCIENCE

Direct conversion of fibroblasts to functional neurons by defined factors

(2010) Thomas Vierbuchen et al.   NATURE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Oxytocin Deficiency Mediates Hyperphagic Obesity ofSim1Haploinsufficient Mice

(2008) Bassil M. Kublaoui et al.   MOLECULAR ENDOCRINOLOGY