Related references
Note: Only part of the references are listed.Cortical Abnormalities and Non-Spatial Learning Deficits in a Mouse Model of CranioFrontoNasal Syndrome
Dina N. Arvanitis et al.
PLOS ONE (2014)
ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
Hiromi Hirata et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes
Stephen R. F. Twigg et al.
HUMAN MOLECULAR GENETICS (2013)
Tet Proteins Connect the O-Linked N-acetylglucosamine Transferase Ogt to Chromatin in Embryonic Stem Cells
Pietro Vella et al.
MOLECULAR CELL (2013)
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
Herbert A. Lubs et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
Lingli Huang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy
Erin L. Heinzen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
Tjitske Kleefstra et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation
Peter M. Krawitz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Human Genome Sequencing in Health and Disease
Claudia Gonzaga-Jauregui et al.
ANNUAL REVIEW OF MEDICINE, VOL 63 (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis
Sheng-Quan Zhang et al.
NATURE GENETICS (2012)
Fast gapped-read alignment with Bowtie 2
Ben Langmead et al.
NATURE METHODS (2012)
Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
James O'Sullivan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
Fadi F. Hamdan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Mapping Rare and Common Causal Alleles for Complex Human Diseases
Soumya Raychaudhuri
CELL (2011)
Autism in two females with duplications involving Xp11.22-p11.23
Anna C. Edens et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
Brian H. Y. Chung et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis
Tejasvi S. Niranjan et al.
GENOME BIOLOGY (2011)
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities
Matthew N. Bainbridge et al.
GENOME BIOLOGY (2011)
Unlocking Mendelian disease using exome sequencing
Christian Gilissen et al.
GENOME BIOLOGY (2011)
Genetics of Early Onset Cognitive Impairment
Hans Hilger Ropers
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 11 (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Integrating common and rare genetic variation in diverse human populations
David M. Altshuler et al.
NATURE (2010)
Exome sequencing identifies the cause of a mendelian disorder
Sarah B. Ng et al.
NATURE GENETICS (2010)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah B. Ng et al.
NATURE GENETICS (2010)
Exome sequencing makes medical genomics a reality
Leslie G. Biesecker
NATURE GENETICS (2010)
Target-enrichment strategies for next-generation sequencing
Lira Mamanova et al.
NATURE METHODS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
APPLICATIONS OF NEXT-GENERATION SEQUENCING Sequencing technologies - the next generation
Michael L. Metzker
NATURE REVIEWS GENETICS (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Ephrin-B1 regulates axon guidance by reverse signaling through a PDZ-dependent mechanism
Jeffrey O. Bush et al.
GENES & DEVELOPMENT (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
The genetic landscape of intellectual disability arising from chromosome X
Jozef Gecz et al.
TRENDS IN GENETICS (2009)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at Synapses in a mouse model of fragile X syndrome
Ravi S. Muddashetty et al.
JOURNAL OF NEUROSCIENCE (2007)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
Share Paper
