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SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

Clinical genetics, 2015-10, Vol.88 (4), p.327-335

2015

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Whole-genome sequencing of patients achieving hepatitis B virus serum antigen loss following tenofovir disoproxil fumerate (TDF) and/or pegylated-interferon α-2a (PEG) therapy

Journal of hepatology, 2017, Vol.66 (1), p.S691-S691

2017

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1-D DSMC simulation of Io's atmospheric collapse and reformation during and after eclipse

Icarus (New York, N.Y. 1962), 2009-06, Vol.201 (2), p.585-597

2009

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PNPLA3 Variants Confer an Increased Risk of Advanced Fibrosis Due to Non-Alcoholic Steatohepatitis

Journal of hepatology, 2016, Vol.64 (2), p.S493-S493

2016

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Genome-Wide Association Study of Clinically Significant Portal Hypertension in Patients with Nonalcoholic Steatohepatitis and Advanced Fibrosis

Journal of hepatology, 2016, Vol.64 (2), p.S280-S280

2016

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Whole Exome Sequencing: A Novel Strategy to Understand Chronic Lung Allograft Dysfunction (CLAD)

The Journal of heart and lung transplantation, 2014-04, Vol.33 (4), p.S140-S140

2014

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Genome-Wide Association Study (Gwas) of Liver Fibrosis Phenotypes in Patients with Primary Sclerosing Cholangitis (Psc) Reveals Common Genetic Variation Influencing Serum Levels of Lysyl Oxidase-Like-2 (Loxl2)

Journal of hepatology, 2016, Vol.64 (2), p.S180-S181

2016

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P0711 : Genome-wide association study of response to sofosbuvir-ribavirin treatment in GT2/3 HCV patients

Journal of hepatology, 2015-04, Vol.62, p.S590-S590

2015

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Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia

European journal of paediatric neurology, 2017-06, Vol.21, p.e214-e214

2017

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No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy

Epilepsy research, 2009-01, Vol.83 (1), p.44-51

2009

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930 ANALYSIS OF GENOTYPE 1 HCV ADAPTATION TO HOST IL28B POLYMORPHISM - EVIDENCE FOR VIRAL INNATE IMMUNE ESCAPE PATTERNS

Journal of hepatology, 2012-04, Vol.56, p.S362-S362

2012

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Guidelines for investigating causality of sequence variants in human disease

Nature (London), 2014-04, Vol.508 (7497), p.469-476

2014

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Causal Genetic Variants in Stillbirth

The New England journal of medicine, 2020-09, Vol.383 (12), p.1107-1116

2020

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Coupled DSMC-Monte Carlo radiative transfer modeling of gas dynamics in a transient impact-generated lunar atmosphere

Icarus (New York, N.Y. 1962), 2019-07, Vol.326, p.88-104

2019

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The influence of surface roughness on volatile transport on the Moon

Icarus (New York, N.Y. 1962), 2018-01, Vol.299, p.31-45

2018

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1168 IL28B GENETIC VARIATION ASSOCIATED WITH EARLY VIRAL KINETICS AND SVR IN HCV GENOTYPE 1 THE VIRAHEP-C STUDY

Journal of hepatology, 2010, Vol.52, p.S451-S451

2010

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Parametric study of water vapor and water ice particle plumes based on DSMC calculations: Application to the Enceladus geysers

Icarus (New York, N.Y. 1962), 2019-02, Vol.319, p.729-744

2019

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125 IL28B POLYMORPHISM IS ASSOCIATED WITH JAUNDICE DURING ACUTE HCV INFECTION AND IS A STRONG PREDICTOR FOR SPONTANEOUS CLEARANCE IN THE PROSPECTIVE GERMAN ANTI-D COHORT

Journal of hepatology, 2010, Vol.52, p.S56-S56

2010

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Practical considerations in the clinical application of whole-exome sequencing

Clinical genetics, 2016-02, Vol.89 (2), p.173-181

2016

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DSMC simulation of Europa water vapor plumes

Icarus (New York, N.Y. 1962), 2016-10, Vol.277, p.370-380

2016

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A non-equilibrium surface reservoir approach for hybrid DSMC/Navier–Stokes particle generation

Journal of computational physics, 2013-01, Vol.232 (1), p.468-481

2013

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SAT-161 - Whole-genome sequencing of patients achieving hepatitis B virus serum antigen loss following tenofovir disoproxil fumerate (TDF) and/or pegylated-interferon α-2a (PEG) therapy

Journal of hepatology, 2017, Vol.66 (1), p.S691-S691

2017

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Population genetic approaches to neurological disease: Parkinson's disease as an example

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2005-08, Vol.360 (1460), p.1573-1578

2005

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Monte Carlo solution of the Boltzmann equation via a discrete velocity model

Journal of computational physics, 2011-02, Vol.230 (4), p.1265-1280

2011

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The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome

Clinical genetics, 2015-10, Vol.88 (4), p.386-390

2015

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SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

Whole-genome sequencing of patients achieving hepatitis B virus serum antigen loss following tenofovir disoproxil fumerate (TDF) and/or pegylated-interferon α-2a (PEG) therapy

1-D DSMC simulation of Io's atmospheric collapse and reformation during and after eclipse

PNPLA3 Variants Confer an Increased Risk of Advanced Fibrosis Due to Non-Alcoholic Steatohepatitis

Genome-Wide Association Study of Clinically Significant Portal Hypertension in Patients with Nonalcoholic Steatohepatitis and Advanced Fibrosis

Whole Exome Sequencing: A Novel Strategy to Understand Chronic Lung Allograft Dysfunction (CLAD)

Genome-Wide Association Study (Gwas) of Liver Fibrosis Phenotypes in Patients with Primary Sclerosing Cholangitis (Psc) Reveals Common Genetic Variation Influencing Serum Levels of Lysyl Oxidase-Like-2 (Loxl2)

P0711 : Genome-wide association study of response to sofosbuvir-ribavirin treatment in GT2/3 HCV patients

Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia

No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy

930 ANALYSIS OF GENOTYPE 1 HCV ADAPTATION TO HOST IL28B POLYMORPHISM - EVIDENCE FOR VIRAL INNATE IMMUNE ESCAPE PATTERNS

Guidelines for investigating causality of sequence variants in human disease

Causal Genetic Variants in Stillbirth

Coupled DSMC-Monte Carlo radiative transfer modeling of gas dynamics in a transient impact-generated lunar atmosphere

The influence of surface roughness on volatile transport on the Moon

1168 IL28B GENETIC VARIATION ASSOCIATED WITH EARLY VIRAL KINETICS AND SVR IN HCV GENOTYPE 1 THE VIRAHEP-C STUDY

Parametric study of water vapor and water ice particle plumes based on DSMC calculations: Application to the Enceladus geysers

125 IL28B POLYMORPHISM IS ASSOCIATED WITH JAUNDICE DURING ACUTE HCV INFECTION AND IS A STRONG PREDICTOR FOR SPONTANEOUS CLEARANCE IN THE PROSPECTIVE GERMAN ANTI-D COHORT

Practical considerations in the clinical application of whole-exome sequencing

DSMC simulation of Europa water vapor plumes

A non-equilibrium surface reservoir approach for hybrid DSMC/Navier–Stokes particle generation

SAT-161 - Whole-genome sequencing of patients achieving hepatitis B virus serum antigen loss following tenofovir disoproxil fumerate (TDF) and/or pegylated-interferon α-2a (PEG) therapy

Population genetic approaches to neurological disease: Parkinson's disease as an example

Monte Carlo solution of the Boltzmann equation via a discrete velocity model

The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome

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