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Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism

Clinical genetics, 2018-03, Vol.93 (3), p.712-718

2018

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

Genetics in medicine, 2012-01, Vol.14 (1), p.51-59

2012

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G.P.95 Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.870-871

2012

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Developing genomic knowledge bases and databases to support clinical management: current perspectives

Pharmacogenomics and personalized medicine, 2014-01, Vol.7 (default), p.275-283

2014

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Effects of lossy image compression on quantitative image analysis of cell nuclei

Analytical and quantitative cytology and histology, 2004-02, Vol.26 (1), p.22

2004

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Nucleic acids research, 2019-01, Vol.47 (D1), p.D1018

2019

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Precision Population Medicine in Primary Care: The Sanford Chip Experience

Frontiers in genetics, 2021-03, Vol.12, p.626845-626845

2021

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Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes

Diabetes care, 2024-06, Vol.47 (6), p.1042

2024

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Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Neuromuscular disorders : NMD, 2013-06, Vol.23 (6), p.483-488

2013

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Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.161-170

2014

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Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience

Genetics in medicine, 2016-12, Vol.18 (12), p.1303-1307

2016

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Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Frontiers in medicine, 2017-05, Vol.4, p.62

2017

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Analysis of DNA sequence variants detected by high-throughput sequencing

Human mutation, 2012-04, Vol.33 (4), p.599-608

2012

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VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance

Human mutation, 2012-04, Vol.33 (4), p.593-598

2012

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Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1232-1239

2013

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Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

Frontiers in medicine, 2016-10, Vol.3, p.39-39

2016

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Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function

Molecular genetics and metabolism, 2012-04, Vol.105 (4), p.665-671

2012

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

Genetics in medicine, 2011-09, p.1

2011

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The NIH Undiagnosed Diseases Program: Insights into Rare Diseases

Genetics in medicine, 2011-09, Vol.14 (1), p.51-59

2011

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Les premières salles d'opérations dites aseptiques après Pasteur

Histoire des sciences médicales, 1999, Vol.33 (1), p.69-81

1999

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The surgeon's outfit in the operating room: 100 years of history

Histoire des sciences médicales, 1998-10, Vol.33 (4), p.353-364

1998

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The first operating rooms called aseptic after Pasteur

Histoire des sciences médicales, 1999-01, Vol.33 (1), p.69-81

1999

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L'habit du chirurgien en salle d'opération : 100 ans d'histoire

Histoire des sciences médicales, 1998, Vol.32 (4), p.353-364

1998

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Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism

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

G.P.95 Two sibs with early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD) due to homozygous exon 7 deletion in MEGF10

Developing genomic knowledge bases and databases to support clinical management: current perspectives

Effects of lossy image compression on quantitative image analysis of cell nuclei

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Improved provider preparedness through an 8-part genetics and genomic education program

Precision Population Medicine in Primary Care: The Sanford Chip Experience

Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Analysis of DNA sequence variants detected by high-throughput sequencing

VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function

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

The NIH Undiagnosed Diseases Program: Insights into Rare Diseases

Les premières salles d'opérations dites aseptiques après Pasteur

The surgeon's outfit in the operating room: 100 years of history

The first operating rooms called aseptic after Pasteur

L'habit du chirurgien en salle d'opération : 100 ans d'histoire

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