相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report
Frenny Sheth et al.
BMC NEUROLOGY (2023)
A new neurodevelopmental disorder linked to heterozygous variants in UNC79
Allan Bayat et al.
GENETICS IN MEDICINE (2023)
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification
Courtney Thaxton et al.
HUMAN MUTATION (2022)
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
Maria Isabel Alvarez-Mora et al.
ORPHANET JOURNAL OF RARE DISEASES (2022)
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
Islam Oguz Tuncay et al.
NPJ GENOMIC MEDICINE (2022)
A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing
Ekaterina A. Gibitova et al.
GENES (2022)
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
Quentin Testard et al.
JOURNAL OF MEDICAL GENETICS (2022)
A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome
Jhanvi Shah et al.
BMC NEUROLOGY (2021)
The Human Phenotype Ontology in 2021
Sebastian Koehler et al.
NUCLEIC ACIDS RESEARCH (2021)
Mouse Genome Database (MGD): Knowledgebase for mouse-human comparative biology
Judith A. Blake et al.
NUCLEIC ACIDS RESEARCH (2021)
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
Ana Arteche-Lopez et al.
GENES (2021)
Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings
Jasleen Dhaliwal et al.
GENES (2021)
A single-cell type transcriptomics map of human tissues
Max Karlsson et al.
SCIENCE ADVANCES (2021)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
Daniel G. Glaze et al.
NEUROLOGY (2019)
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Siddharth Srivastava et al.
GENETICS IN MEDICINE (2019)
Recessive gene disruptions in autism spectrum disorder
Ryan N. Doan et al.
NATURE GENETICS (2019)
Getting to the Cores of Autism
Lilia M. Iakoucheva et al.
CELL (2019)
Front Cover, Volume 40, Issue 8
Laurens Wiel et al.
HUMAN MUTATION (2019)
UniProt: a worldwide hub of protein knowledge
Alex Bateman et al.
NUCLEIC ACIDS RESEARCH (2019)
STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets
Damian Szklarczyk et al.
NUCLEIC ACIDS RESEARCH (2019)
Prevalence of autism spectrum disorder in Indian children: A systematic review and meta-analysis
Anil Chauhan et al.
NEUROLOGY INDIA (2019)
Parental Perception and Participation in Genetic Testing Among Children With Autism Spectrum Disorders
John W. Harrington et al.
CLINICAL PEDIATRICS (2018)
Increasing the diagnostic yield of exome sequencing by copy number variant analysis
Daniel S. Marchuk et al.
PLOS ONE (2018)
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Hui Guo et al.
MOLECULAR AUTISM (2018)
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
Noa Lipstein et al.
JOURNAL OF CLINICAL INVESTIGATION (2017)
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders
Mad Rossi et al.
PEDIATRIC NEUROLOGY (2017)
Autism Spectrum disorders (ASD) in South Asia: a systematic review
Mohammad Didar Hossain et al.
BMC PSYCHIATRY (2017)
Heritability of autism spectrum disorders: a meta-analysis of twin studies
Beata Tick et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2016)
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Kristiina Tammimies et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Next-generation diagnostics and disease-gene discovery with the Exomiser
Damian Smedley et al.
NATURE PROTOCOLS (2015)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
The Database of Genomic Variants: a curated collection of structural variation in the human genome
Jeffrey R. MacDonald et al.
NUCLEIC ACIDS RESEARCH (2014)
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
Marco Fichera et al.
MOLECULAR CYTOGENETICS (2014)
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
Helga Thorvaldsdottir et al.
BRIEFINGS IN BIOINFORMATICS (2013)
Parental Interest in a Genetic Risk Assessment Test for Autism Spectrum Disorders
Vivien Narcisa et al.
CLINICAL PEDIATRICS (2013)
Diagnostic and statistical manual of mental disorders 5: A quick glance
Vihang N. Vahia
INDIAN JOURNAL OF PSYCHIATRY (2013)
Disease gene identification strategies for exome sequencing
Christian Gilissen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Identification of deleterious mutations within three human genomes
Sung Chun et al.
GENOME RESEARCH (2009)
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Murim Choi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
Tjitske Kleefstra et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
SA Yatsenko et al.
JOURNAL OF MEDICAL GENETICS (2005)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Human gene mutation database (HGMD®):: 2003 update
PD Stenson et al.
HUMAN MUTATION (2003)
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
D Botstein et al.
NATURE GENETICS (2003)
分享论文
