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Mutations in NOTCH1 Cause Adams-Oliver Syndrome

American journal of human genetics, 2014-09, Vol.95 (3), p.275-284

2014

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Parent-of-origin-specific signatures of de novo mutations

Nature genetics, 2016-08, Vol.48 (8), p.935-939

2016

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing

PloS one, 2014-04, Vol.9 (4), p.e94554

2014

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Diagnosis and treatment of cancer using genomics

BMJ (Online), 2015-05, Vol.350, p.h1832

2015

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New observations on maternal age effect on germline de novo mutations

Nature communications, 2016-01, Vol.7 (1), p.10486-10486, Article 10486

2016

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Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

Genetics in medicine, 2016-03, Vol.18 (3), p.221-230

2016

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CloudForest: A Scalable and Efficient Random Forest Implementation for Biological Data

PloS one, 2015-12, Vol.10 (12), p.e0144820-e0144820

2015

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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome

American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1111-1116

2015

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Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

American journal of transplantation, 2006-03, Vol.6 (3), p.557-564

2006

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response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.700-707

2007

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Methylome repatterning in a mouse model of Maternal PKU Syndrome

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.194-199

2014

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Genomic and molecular characterization of preterm birth

Proceedings of the National Academy of Sciences - PNAS, 2019-03, Vol.116 (12), p.5819-5827

2019

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Identification of copy number variants in whole-genome data using Reference Coverage Profiles

Frontiers in genetics, 2015-02, Vol.6, p.45-45

2015

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Identification of differentially expressed genes in hepatocellular carcinoma and metastatic liver tumors by oligonucleotide expression profiling

Cancer, 2001-07, Vol.92 (2), p.395-405

2001

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Cloning and Characterization of the Human Type II Arginase Gene

Genomics (San Diego, Calif.), 1996-12, Vol.38 (2), p.118-123

1996

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Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas

Gastroenterology (New York, N.Y. 1943), 2015-12, Vol.149 (7), p.1872-1883.e9

2015

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Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

Brain (London, England : 1878), 2016-09, Vol.139 (Pt 9), p.e52-e52

2016

Volltextzugriff (PDF)

Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency

American journal of human genetics, 2001-04, Vol.68 (4), p.839-847

2001

Volltextzugriff (PDF)

The human arginases and arginase deficiency

Journal of inherited metabolic disease, 1998, Vol.21 (S1), p.86-100

1998

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Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer

Oncotarget, 2015-11, Vol.6 (37), p.39614-39633

2015

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30 years of liver transplantation for metabolic disease in the United States

Journal of hepatology, 2018-04, Vol.68, p.S28

2018

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PS-048 - 30 years of liver transplantation for metabolic disease in the United States

Journal of hepatology, 2018-04, Vol.68, p.S28-S28

2018

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Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series

Pediatric transplantation, 2011-02, Vol.15 (1), p.58-64

2011

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Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

Molecular syndromology, 2015-09, Vol.6 (3), p.141-146

2015

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Diagnosis of an imprinted‐gene syndrome by a novel bioinformatics analysis of whole‐genome sequences from a family trio

Molecular genetics & genomic medicine, 2014-11, Vol.2 (6), p.530-538

2014

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Mutations in NOTCH1 Cause Adams-Oliver Syndrome

Parent-of-origin-specific signatures of de novo mutations

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing

Diagnosis and treatment of cancer using genomics

New observations on maternal age effect on germline de novo mutations

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

CloudForest: A Scalable and Efficient Random Forest Implementation for Biological Data

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome

Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

Methylome repatterning in a mouse model of Maternal PKU Syndrome

Genomic and molecular characterization of preterm birth

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

Identification of differentially expressed genes in hepatocellular carcinoma and metastatic liver tumors by oligonucleotide expression profiling

Cloning and Characterization of the Human Type II Arginase Gene

Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency

The human arginases and arginase deficiency

Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer

30 years of liver transplantation for metabolic disease in the United States

PS-048 - 30 years of liver transplantation for metabolic disease in the United States

Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series

Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

Diagnosis of an imprinted‐gene syndrome by a novel bioinformatics analysis of whole‐genome sequences from a family trio

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