The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities (Q27014740)

American Journal of Human Genetics

published in

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199-215

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De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

21 March 2017

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Defining functional DNA elements in the human genome

21 March 2017

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21 March 2017

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Integrative annotation of variants from 1092 humans: application to cancer genomics

21 March 2017

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Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

21 March 2017

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 March 2017

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Human genome sequencing in health and disease

21 March 2017

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A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 March 2017

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NT5E mutations and arterial calcifications

21 March 2017

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 March 2017

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Exome sequencing identifies the cause of a mendelian disorder

21 March 2017

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 March 2017

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Finding the missing heritability of complex diseases

21 March 2017

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Targeted capture and massively parallel sequencing of 12 human exomes

21 March 2017

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Diet and the evolution of human amylase gene copy number variation

21 March 2017

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Initial sequencing and comparative analysis of the mouse genome

21 March 2017

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Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes

21 March 2017

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Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

21 March 2017

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β-Secretase (BACE1) inhibitors with high in vivo efficacy suitable for clinical evaluation in Alzheimer's disease

21 March 2017

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Saccharomyces cerevisiae S288C has a mutation in FLO8, a gene required for filamentous growth

21 March 2017

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Isolation of peroxisome-deficient mutants of Saccharomyces cerevisiae

21 March 2017

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Unipolar cell divisions in the yeast S. cerevisiae lead to filamentous growth: regulation by starvation and RAS

21 March 2017

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Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genes

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

21 March 2017

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Guidelines for investigating causality of sequence variants in human disease

21 March 2017

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Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia

21 March 2017

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 March 2017

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Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis

21 March 2017

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A framework for the interpretation of de novo mutation in human disease

7 April 2017

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

7 April 2017

1 reference

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Genomic responses in mouse models poorly mimic human inflammatory diseases

7 April 2017

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A new initiative on precision medicine

7 April 2017

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A general framework for estimating the relative pathogenicity of human genetic variants

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Exome sequencing as a tool for Mendelian disease gene discovery

7 April 2017

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Missing heritability and strategies for finding the underlying causes of complex disease

7 April 2017

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A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

7 April 2017

1 reference

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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

9 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Chromothriptic cure of WHIM syndrome

28 September 2017

1 reference

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Socio-economic burden of rare diseases: A systematic review of cost of illness evidence

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

TBX6 null variants and a common hypomorphic allele in congenital scoliosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Finding our way through phenotypes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

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

28 September 2017

1 reference

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Challenges and solutions for gene identification in the presence of familial locus heterogeneity

28 September 2017

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PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Clinical exome sequencing for genetic identification of rare Mendelian disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Molecular findings among patients referred for clinical whole-exome sequencing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Phenotyping: targeting genotype's rich cousin for diagnosis

28 September 2017

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FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

28 September 2017

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Rare inherited kidney diseases: challenges, opportunities, and perspectives

28 September 2017

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Variant association tools for quality control and analysis of large-scale sequence and genotyping array data

28 September 2017

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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

28 September 2017

1 reference

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Targeting the inward-rectifier potassium channel ROMK in cardiovascular disease

28 September 2017

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

28 September 2017

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Synthetic cytotoxicity: digenic interactions with TEL1/ATM mutations reveal sensitivity to low doses of camptothecin

28 September 2017

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Pathogenic variants in non-protein-coding sequences.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

De novo mutations in histone-modifying genes in congenital heart disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Hunting human disease genes: lessons from the past, challenges for the future.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Pharmacogenomics in clinical practice and drug development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

De novo mutations in human genetic disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Deep phenotyping for precision medicine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Next-generation sequencing demands next-generation phenotyping

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Effect of a monoclonal antibody to PCSK9 on LDL cholesterol

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Genetics of human cardiovascular disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

A RaDiCAL approach to gene discovery

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Whole-genome sequencing for optimized patient management

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Charting a course for genomic medicine from base pairs to bedside

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

A newborn with unusual morphology: some practical aspects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Massively parallel sequencing and rare disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Structural variation in the human genome and its role in disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

From syndrome families to functional genomics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Genetic disorders in children and young adults: a population study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Exome sequencing makes medical genomics a reality

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Suvorexant in Patients With Insomnia: Results From Two 3-Month Randomized Controlled Clinical Trials

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573249

Positional cloning moves from perditional to traditional

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/26166479

12 December 2020

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/26166479

12 December 2020

inferred from PubMed ID database lookup

Human genetics. Affordable 'exomes' fill gaps in a catalog of rare diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/26166479

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2015.06.009

1 reference

release_wes2hctftng37beq673gsckhbu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wes2hctftng37beq673gsckhbu

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

26166479

1 reference