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Mutations in PIK3R1 Cause SHORT Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.158-166

2013

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Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Journal of medical genetics, 2014-07, Vol.51 (7), p.470-474

2014

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Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

American journal of human genetics, 2012-02, Vol.90 (2), p.282-289

2012

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THEMIS is required for pathogenesis of cerebral malaria and protection against pulmonary tuberculosis

Infection and immunity, 2015-02, Vol.83 (2), p.759-768

2015

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Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

American journal of human genetics, 2013-02, Vol.92 (2), p.252-258

2013

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Toward a Computational Tool Predicting the Stereochemical Outcome of Asymmetric Reactions: Development and Application of a Rapid and Accurate Program Based on Organic Principles

Angewandte Chemie (International ed.), 2008-03, Vol.47 (14), p.2635-2638

2008

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A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.719-729

2018

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CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection

Nature microbiology, 2019-09, Vol.4 (9), p.1516

2019

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Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

Epilepsia (Copenhagen), 2014-07, Vol.55 (7), p.e75-e79

2014

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Mutations in TMEM231 cause Joubert syndrome in French Canadians

Journal of medical genetics, 2012-10, Vol.49 (10), p.636-641

2012

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Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

Journal of medical genetics, 2011-09, Vol.48 (9), p.590-592

2011

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Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

Journal of neuropathology and experimental neurology, 2014-11, Vol.73 (11), p.1009-1025

2014

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A family segregating lethal neonatal coenzyme Q 10 deficiency caused by mutations in COQ9

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.719-729

2018

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Altered IFN-γ-mediated immunity and transcriptional expression patterns in N-Ethyl-N-nitrosourea-induced STAT4 mutants confer susceptibility to acute typhoid-like disease

The Journal of immunology (1950), 2014-01, Vol.192 (1), p.259-270

2014

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

Nature genetics, 2012-08, Vol.44 (8), p.934-940

2012

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Artificial intelligence for dementia genetics and omics

Alzheimer's & dementia, 2023-12, Vol.19 (12), p.5905-5921

2023

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k-Space Image Correlation Spectroscopy (kICS): Accuracy and Precision, Capabilities and Limitations

Schwartzentruber, Jeremy A

2011

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Toward a Computational Tool Predicting the Stereochemical Outcome of Asymmetric Reactions: Development and Application of a Rapid and Accurate Program Based on Organic Principles

Angewandte Chemie, 2008-03, Vol.120 (14), p.2675-2678

2008

Volltextzugriff (PDF)

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes

Nature genetics, 2021-03, Vol.53 (3), p.392-402

2021

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CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

Nature (London), 2014-06, Vol.510 (7504), p.288-292

2014

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An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

Nature genetics, 2021-11, Vol.53 (11), p.1527-1533

2021

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What can exome sequencing do for you?

Journal of Medical Genetics, 2011-09, Vol.48 (9), p.580-589

2011

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Mutations in PIK3R1 Cause SHORT Syndrome

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

THEMIS is required for pathogenesis of cerebral malaria and protection against pulmonary tuberculosis

Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

Toward a Computational Tool Predicting the Stereochemical Outcome of Asymmetric Reactions: Development and Application of a Rapid and Accurate Program Based on Organic Principles

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection

Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

Mutations in TMEM231 cause Joubert syndrome in French Canadians

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

A family segregating lethal neonatal coenzyme Q 10 deficiency caused by mutations in COQ9

Altered IFN-γ-mediated immunity and transcriptional expression patterns in N-Ethyl-N-nitrosourea-induced STAT4 mutants confer susceptibility to acute typhoid-like disease

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

Artificial intelligence for dementia genetics and omics

k-Space Image Correlation Spectroscopy (kICS): Accuracy and Precision, Capabilities and Limitations

Toward a Computational Tool Predicting the Stereochemical Outcome of Asymmetric Reactions: Development and Application of a Rapid and Accurate Program Based on Organic Principles

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

What can exome sequencing do for you?

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

A map of transcriptional heterogeneity and regulatory variation in human microglia

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

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