Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances

(2021) Maria Cerminara et al.   Frontiers in Genetics

Genetic Testing in Neurodevelopmental Disorders

(2021) Juliann M. Savatt et al.   Frontiers in Pediatrics

Impaired formation of high-order gephyrin oligomers underlies gephyrin dysfunction-associated pathologies

(2021) Seungjoon Kim et al.   iScience

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

(2021) Ana Arteche-López et al.   Genes

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing

(2021) Maria Isabel Alvarez-Mora et al.   Genes

The Protein Tyrosine Phosphatase Receptor Delta Regulates Developmental Neurogenesis

(2020) Hideaki Tomita et al.   Cell Reports

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

(2020) Uirá Souto Melo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recent Progress on Relevant microRNAs in Autism Spectrum Disorders

(2020) Xingwang Wu et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

ABHD4-dependent developmental anoikis safeguards the embryonic brain

(2020) Zsófia I. László et al.   Nature Communications

Interaction of OIP5-AS1 with MEF2C mRNA promotes myogenic gene expression

(2020) Jen-Hao Yang et al.   NUCLEIC ACIDS RESEARCH

PTPRD: neurobiology, genetics, and initial pharmacology of a pleiotropic contributor to brain phenotypes

(2019) George R. Uhl et al.   Annals of the New York Academy of Sciences

Genomic Copy Number Variations in the Autism Clinic—Work in Progress

(2019) Milen Velinov   Frontiers in Cellular Neuroscience

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

(2019) Laura M. Huckins et al.   NATURE GENETICS

AMPA Receptor Auxiliary Proteins of the CKAMP Family

(2019) Jakob von Engelhardt   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

(2019) Michael D. Fountain et al.   GENETICS IN MEDICINE

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

(2019) Huifang Yan et al.   BMC Medical Genetics

Synaptic dysfunction in human neurons with autism-associated deletions in PTCHD1-AS

(2019) P. Joel Ross et al.   BIOLOGICAL PSYCHIATRY

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

(2019) Siddharth Srivastava et al.   GENETICS IN MEDICINE

Brn4 promotes the differentiation of radial glial cells into neurons by inhibiting CtBP2

(2019) Lei Zhang et al.   LIFE SCIENCES

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

Shisa7 is a GABAA receptor auxiliary subunit controlling benzodiazepine actions

(2019) Wenyan Han et al.   SCIENCE

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

(2018) Laura Addis et al.   JOURNAL OF MEDICAL GENETICS

Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1 crv4 mouse model of SCAR13 ataxia

(2018) Simone Bossi et al.   NEUROBIOLOGY OF DISEASE

RES complex is associated with intron definition and required for zebrafish early embryogenesis

(2018) Juan Pablo Fernandez et al.   PLoS Genetics

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

(2018) Lucilla Pizzo et al.   GENETICS IN MEDICINE

MiR-4465 directly targets PTEN to inhibit AKT/mTOR pathway–mediated autophagy

(2018) Zhouteng Tao et al.   CELL STRESS & CHAPERONES

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

(2018) Hui Guo et al.   GENETICS IN MEDICINE

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

(2018) Bradley P. Coe et al.   NATURE GENETICS

Partial loss of psychiatric risk gene Mir137 in mice causes repetitive behavior and impairs sociability and learning via increased Pde10a

(2018) Ying Cheng et al.   NATURE NEUROSCIENCE

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Neural Glycosylphosphatidylinositol-Anchored Proteins in Synaptic Specification

(2017) Ji Won Um et al.   TRENDS IN CELL BIOLOGY

Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements

(2017) Giulio Piluso et al.   WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY

The AMPA receptor-associated protein Shisa7 regulates hippocampal synaptic function and contextual memory

(2017) Leanne J M Schmitz et al.   eLife

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV

(2016) Michael H. Duyzend et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Implication ofLRRC4CandDPP6in neurodevelopmental disorders

(2016) Gilles Maussion et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microduplications at the pseudoautosomalSHOXlocus in autism spectrum disorders and related neurodevelopmental conditions

(2016) Maria Tropeano et al.   JOURNAL OF MEDICAL GENETICS

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

(2016) Monkol Lek et al.   NATURE

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders

(2016) Min-Tzu Lo et al.   NATURE GENETICS

Genome-wide mapping and analysis of chromosome architecture

(2016) Anthony D. Schmitt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Glycine confers neuroprotection through microRNA-301a/PTEN signaling

(2016) Juan Chen et al.   Molecular Brain

The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

(2015) Devin Cox et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Chromatin architecture reorganization during stem cell differentiation

(2015) Jesse R. Dixon et al.   NATURE

Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice

(2015) Andy W. Yang et al.   NEUROGENETICS

Mechanisms of splicing-dependent trans-synaptic adhesion by PTPδ–IL1RAPL1/IL-1RAcP for synaptic differentiation

(2015) Atsushi Yamagata et al.   Nature Communications

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

(2015) Nancy Choucair et al.   Molecular Cytogenetics

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case

(2015) Elisa Tassano et al.   Molecular Cytogenetics

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

(2014) Carlotta Maria Vaccari et al.   BMC Medical Genetics

Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS

(2014) M Mattheisen et al.   MOLECULAR PSYCHIATRY

Rare exonic deletions of theRBFOX1gene increase risk of idiopathic generalized epilepsy

(2013) Dennis Lal et al.   EPILEPSIA

Gαz regulates BDNF-induction of axon growth in cortical neurons

(2013) Rainbo Hultman et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits

(2012) Pia Irene Anna Rossi et al.   CEREBRAL CORTEX

Interleukin-1 Receptor Accessory Protein Organizes Neuronal Synaptogenesis as a Cell Adhesion Molecule

(2012) T. Yoshida et al.   JOURNAL OF NEUROSCIENCE

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

GeneCodis3: a non-redundant and modular enrichment analysis tool for functional genomics

(2012) D. Tabas-Madrid et al.   NUCLEIC ACIDS RESEARCH

SynGAP isoforms exert opposing effects on synaptic strength

(2012) A.C. McMahon et al.   Nature Communications

Glutamate receptor composition of the post-synaptic density is altered in genetic mouse models of NMDA receptor hypo- and hyperfunction

(2011) Darrick T. Balu et al.   BRAIN RESEARCH

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

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

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

USP7/HAUSP stimulates repair of oxidative DNA lesions

(2010) S. V. Khoronenkova et al.   NUCLEIC ACIDS RESEARCH

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

(2008) Barbara Schormair et al.   NATURE GENETICS