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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Nature genetics, 2009-11, Vol.41 (11), p.1247-1252

2009

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Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line

Science (American Association for the Advancement of Science), 2003-08, Vol.301 (5633), p.643-646

2003

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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

Proceedings of the National Academy of Sciences - PNAS, 2013-12, Vol.110 (50), p.20152-20157

2013

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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

Nature genetics, 2013-01, Vol.45 (1), p.93-97

2013

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Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania

Nature communications, 2019-12, Vol.10 (1), p.5732-19, Article 5732

2019

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A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

Nature communications, 2013-12, Vol.4 (1), p.2872-2872, Article 2872

2013

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The influence of mutation, recombination, population history, and selection on patterns of genetic diversity in Neisseria meningitidis

Molecular biology and evolution, 2005-03, Vol.22 (3), p.562-569

2005

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Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

Proceedings of the National Academy of Sciences - PNAS, 2014-09, Vol.111 (36), p.13127-13132

2014

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Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

Clinical immunology (Orlando, Fla.), 2015-10, Vol.160 (2), p.301-314

2015

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Genome-Wide Association Study Implicates HLA-C01:02 as a Risk Factor at the Major Histocompatibility Complex Locus in Schizophrenia

Biological psychiatry (1969), 2012-10, Vol.72 (8), p.620-628

2012

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Whole-Exome Sequencing Studies of Nonfunctioning Pituitary Adenomas

The journal of clinical endocrinology and metabolism, 2013-04, Vol.98 (4), p.E796-E800

2013

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Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies

EBioMedicine, 2016-08, Vol.10 (C), p.137-149

2016

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Questionnaire survey of urinary incontinence in women with cystic fibrosis

BMJ (Online), 2001-06, Vol.322 (7301), p.1521-1521

International edition, 2001

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Reproducibility of Placental Volume and Vasculature Indices Obtained by 3‐Dimensional Power Doppler Sonography

Journal of ultrasound in medicine, 2010-06, Vol.29 (6), p.911-916

2010

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Treatment of urinary incontinence in cystic fibrosis

Journal of cystic fibrosis, 2003-12, Vol.2 (4), p.171-176

2003

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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

The influence of mutation, recombination, population history, and selection on patterns of genetic diversity in Neisseria meningitidis

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

Genome-Wide Association Study Implicates HLA-C01:02 as a Risk Factor at the Major Histocompatibility Complex Locus in Schizophrenia

Whole-Exome Sequencing Studies of Nonfunctioning Pituitary Adenomas

Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

Questionnaire survey of urinary incontinence in women with cystic fibrosis

Reproducibility of Placental Volume and Vasculature Indices Obtained by 3‐Dimensional Power Doppler Sonography

Treatment of urinary incontinence in cystic fibrosis

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