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Incidence, Risk Factors, and Attributable Mortality of Secondary Infections in the Intensive Care Unit After Admission for Sepsis

JAMA : the journal of the American Medical Association, 2016-04, Vol.315 (14), p.1469

2016

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The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

Nature genetics, 2013-03, Vol.45 (3), p.262-268

2013

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A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

American journal of human genetics, 2012-05, Vol.90 (5), p.871-878

2012

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Mutations in FAM134B , encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Nature genetics, 2009-11, Vol.41 (11), p.1179-1181

2009

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Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Nature genetics, 2012-07, Vol.44 (7), p.740-742

2012

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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

American journal of human genetics, 2012-10, Vol.91 (4), p.672-684

2012

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Demographic History of Oceania Inferred from Genome-wide Data

Current biology, 2010-11, Vol.20 (22), p.1983-1992

2010

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Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

The journal of clinical endocrinology and metabolism, 2009-10, Vol.94 (10), p.3865-3871

2009

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Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3

Epilepsia (Copenhagen), 2016-03, Vol.57 (3), p.e60-e63

2016

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Metainformatics: International Symposium, MIS 2002, Esbjerg, Denmark, August 7-10, 2002, Revised Papers

1, 2003

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Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

Journal of investigative dermatology, 2013-09, Vol.133 (9), p.2202-2211

2013

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HaploPainter: a tool for drawing pedigrees with complex haplotypes

Bioinformatics, 2005-04, Vol.21 (8), p.1730-1732

2005

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Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

Lancet neurology, 2012-09, Vol.11 (9), p.764-773

2012

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The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Human genetics, 2014-01, Vol.133 (1), p.29-39

2014

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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

American journal of human genetics, 2015-02, Vol.96 (2), p.275-282

2015

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Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

Nature genetics, 2007-08, Vol.39 (8), p.1018-1024

2007

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Consensus molecular subtypes of colorectal cancer are recapitulated in in vitro and in vivo models

Cell death and differentiation, , Vol.25 (3), p.616-633

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Identification of pathogenic variant enriched regions across genes and gene families

Genome research, 2020-01, Vol.30 (1), p.62

2020

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Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

American journal of human genetics, 2009-12, Vol.85 (6), p.883-889

2009

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G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

Nature genetics, 2008-03, Vol.40 (3), p.329-334

2008

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Incidence, Risk Factors, and Attributable Mortality of Secondary Infections in the Intensive Care Unit After Admission for Sepsis

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Mutations in FAM134B , encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Demographic History of Oceania Inferred from Genome-wide Data

Mutational dynamics between primary and relapse neuroblastomas

Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia

Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3

Metainformatics: International Symposium, MIS 2002, Esbjerg, Denmark, August 7-10, 2002, Revised Papers

Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

HaploPainter: a tool for drawing pedigrees with complex haplotypes

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Consensus molecular subtypes of colorectal cancer are recapitulated in in vitro and in vivo models

Identification of pathogenic variant enriched regions across genes and gene families

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

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