EX-HOM (EXome HOMozygosity): a proof of principle (Q42613349)

3 November 2017

EX-HOM (EXome HOMozygosity): a proof of principle (English)

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3 November 2017

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Matteo Benelli

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Alberto Magi

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Alberto Magi

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Marco Seri

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Marco Seri

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Rita Casadio

7

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Rita Casadio

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3 November 2017

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Tommaso Pippucci

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3 November 2017

Pier Luigi Martelli

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3 November 2017

Pamela Magini

5

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3 November 2017

Francesca Torricelli

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3 November 2017

Giovanni Romeo

9

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3 November 2017

18 August 2011

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72

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3 November 2017

45-53

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

3 November 2017

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BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing

21 January 2018

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CEP152 is a genome maintenance protein disrupted in Seckel syndrome

21 January 2018

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Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

21 January 2018

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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

21 January 2018

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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

21 January 2018

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

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Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

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Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

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Runs of homozygosity in European populations

21 January 2018

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Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

21 January 2018

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

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Automated inference of molecular mechanisms of disease from amino acid substitutions.

21 January 2018

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Human non-synonymous SNPs: server and survey

21 January 2018

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A method and server for predicting damaging missense mutations

21 January 2018

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

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Functional annotations improve the predictive score of human disease-related mutations in proteins

21 January 2018

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Prediction of human mRNA donor and acceptor sites from the DNA sequence.

21 January 2018

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Human genes involved in chromatin remodeling in transcription initiation, and associated diseases: An overview using the GENATLAS database

21 January 2018

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A genecentric Human Protein Atlas for expression profiles based on antibodies

21 January 2018

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A mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin

21 January 2018

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Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration

21 January 2018

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Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

21 January 2018

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MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes

21 January 2018

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Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

21 January 2018

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Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

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Collaborative genomics for human health and cooperation in the Mediterranean region

21 January 2018

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Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

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21 January 2018

Identifiers

DOI

10.1159/000330164

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3 November 2017

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