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Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

American journal of human genetics, 2015-06, Vol.96 (6), p.913-925

2015

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Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

Cells, tissues, organs, 2011-01, Vol.194 (2-4), p.279-283

2011

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Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

Clinical journal of the American Society of Nephrology, 2014-03, Vol.9 (3), p.527-535

2014

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Disorders of Human Dentin

Cells Tissues Organs, 2007-01, Vol.186 (1), p.70-77

2007

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comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene

Human mutation, 2008-12, Vol.29 (12), p.1392-1404

2008

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Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome

Journal of medical genetics, 1999-12, Vol.36 (12), p.881-887

1999

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The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P

European journal of human genetics : EJHG, 2009-06, Vol.17 (6), p.774-784

2009

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Human and Mouse Enamel Phenotypes Resulting from Mutation or Altered Expression of AMEL, ENAM, MMP20 and KLK4

Cells, tissues, organs, 2009-01, Vol.189 (1-4), p.224-229

2009

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A Mutation in the SOS1 Gene Causes Hereditary Gingival Fibromatosis Type 1

American journal of human genetics, 2002-04, Vol.70 (4), p.943-954

2002

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Hereditary Interstitial Kidney Disease

Seminars in nephrology, 2010-07, Vol.30 (4), p.366-373

2010

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Germ Line Gain of Function with SOS1 Mutation in Hereditary Gingival Fibromatosis

The Journal of biological chemistry, 2007-07, Vol.282 (28), p.20245-20255

2007

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Nature genetics, 2013-03, Vol.45 (3), p.299-303

2013

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A 4 bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro

Bone (New York, N.Y.), 2008-01, Vol.42 (1), p.162-171

2008

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Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

American journal of human genetics, 2009-08, Vol.85 (2), p.204-213

2009

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Penetrance of PD in Glucocerebrosidase Gene Mutation Carriers

Neurology, 2012-07, Vol.79 (1), p.106-107

2012

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Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)

Case reports in dentistry, 2014-01, Vol.2014 (2014), p.1-5

2014

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Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.732-742

2012

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An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countries

Molecular genetics & genomic medicine, 2019-01, Vol.7 (1), p.e00599-n/a

2019

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Invited commentary: The need for human genetics and genomics in dental school curricula

Molecular genetics & genomic medicine, 2016-03, Vol.4 (2), p.123-125

2016

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Foreword to volume 3, issue 6

Molecular genetics & genomic medicine, 2015-11, Vol.3 (6), p.481-482

2015

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Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

Head & face medicine, 2007-01, Vol.3 (1), p.8-8, Article 8

2007

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Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease

Molecular genetics & genomic medicine, 2017-07, Vol.5 (4), p.307-316

2017

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Childhood course of renal insufficiency in a family with a uromodulin gene mutation

Pediatric nephrology (Berlin, West), 2010-07, Vol.25 (7), p.1355-1360

2010

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Clinical, Genetic, and Biochemical Findings in Two Siblings With Papillon‐Lefèvre Syndrome

Journal of periodontology (1970), 2005-12, Vol.76 (12), p.2322-2329

2005

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Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

Disorders of Human Dentin

comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene

Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome

The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P

Human and Mouse Enamel Phenotypes Resulting from Mutation or Altered Expression of AMEL, ENAM, MMP20 and KLK4

A Mutation in the SOS1 Gene Causes Hereditary Gingival Fibromatosis Type 1

Hereditary Interstitial Kidney Disease

Germ Line Gain of Function with SOS1 Mutation in Hereditary Gingival Fibromatosis

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

A 4 bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Penetrance of PD in Glucocerebrosidase Gene Mutation Carriers

Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countries

Invited commentary: The need for human genetics and genomics in dental school curricula

Foreword to volume 3, issue 6

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease

Childhood course of renal insufficiency in a family with a uromodulin gene mutation

Clinical, Genetic, and Biochemical Findings in Two Siblings With Papillon‐Lefèvre Syndrome

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