Publications by authors named "Suzanne Hart"

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An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countries.
Manjit Kaur, Donald W Hadley, Maximilian Muenke, P Suzanne Hart

Mol Genet Genomic Med· January 2019

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Looking back and looking forward.
Maximilian Muenke, Suzanne Hart

Mol Genet Genomic Med· January 2018

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Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.
Debra S Regier, Carlos R Ferreira, Suzanne Hart, Donald W Hadley, Maximilian Muenke

Mol Genet Genomic Med· November 2017

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Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.
Carlos R Ferreira, Debra S Regier, Donald W Hadley, P Suzanne Hart, Maximilian Muenke

Mol Genet Genomic Med· July 2017

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Invited commentary: The need for human genetics and genomics in dental school curricula.
P Suzanne Hart, Thomas C Hart

Mol Genet Genomic Med· March 2016

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Foreword to volume 3, issue 6.
P Suzanne Hart, Maximilian Muenke

Mol Genet Genomic Med· November 2015

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Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Jennifer J Johnston, Katie L Lewis, David Ng, Larry N Singh, Jamila Wynter, Suzanne P Hart

Am J Hum Genet· June 2015

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Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome).
Meltem Ozdemir-Karatas, Didem Ozdemir-Ozenen, P Suzanne Hart, Thomas C Hart

Case Rep Dent· January 2015

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Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.
Anthony J Bleyer, Stanislav Kmoch, Corinne Antignac, Vicki Robins, Kendrah Kidd, Thomas C Hart, P Suzanne Hart

Clin J Am Soc Nephrol· March 2014

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Genetics and genomic medicine around the world.
Suzanne Hart, Maximilian Muenke

Mol Genet Genomic Med· January 2014

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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Graciana Jaureguiberry, Muriel De la Dure-Molla, David Parry, Mickael Quentric, Nina Himmerkus, Thomas C Hart, P Suzanne Hart

Nephron Physiol· October 2013

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Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.
Pranoot Tanpaiboon, Jennifer L Sloan, Patrick F Callahan, Dorothea McAreavey, P Suzanne Hart

JIMD Rep· May 2013

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Andrew Kirby, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet, P Suzanne Hart

Nat Genet· March 2013

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Penetrance of PD in Glucocerebrosidase Gene Mutation Carriers.
Ellen Sidransky, P Suzanne Hart

Neurology· July 2012

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Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
Rafael Denadai, Cassio E Raposo-Amaral, Débora Bertola, Chong Kim, Nivaldo Alonso, Thomas Hart, P Suzanne Hart

Am J Med Genet A· April 2012

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Amelogenesis imperfecta: genotype-phenotype studies in 71 families.
J Timothy Wright, Melody Torain, Kimberly Long, Kim Seow, Peter Crawford, P Suzanne Hart, Tom C Hart

Cells Tissues Organs· December 2011

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Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
Meral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, Dan Geiger, Mualla Cetin, P Suzanne Hart

Blood· December 2010

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Childhood course of renal insufficiency in a family with a uromodulin gene mutation.
Péter Schäffer, Eva Gombos, Krisztina Meichelbeck, András Kiss, P Suzanne Hart

Pediatr Nephrol· July 2010

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Hereditary interstitial kidney disease.
Anthony J Bleyer, P Suzanne Hart, Stanislav Kmoch

Semin Nephrol· July 2010

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Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
Irini Manoli, Gretchen Golas, Wendy Westbroek, Thierry Vilboux, Thomas C Markello, P Suzanne Hart

Am J Med Genet A· June 2010

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Oral rehabilitation of a patient with amelogenesis imperfecta.
Dilsah Cogulu, Sema Becerik, Gülnur Emingil, P Suzanne Hart, Thomas C Hart

Pediatr Dent· March 2010

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Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
Martina Zivná, Helena Hůlková, Marie Matignon, Katerina Hodanová, Petr Vylet'al, P Suzanne Hart, Thomas C Hart

Am J Hum Genet· August 2009

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Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.
Sema Becerik, Dilsah Cogulu, Gülnur Emingil, Ted Han, P Suzanne Hart, Thomas C Hart

Am J Med Genet A· July 2009

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The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.
Sun J Choi, Mary L Marazita, P Suzanne Hart, Pawel P Sulima, L Leigh Field, Thomas C Hart

Eur J Hum Genet· June 2009

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Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.
J Timothy Wright, Thomas C Hart, P Suzanne Hart, Darrin Simmons, Cynthia Suggs

Cells Tissues Organs· February 2009

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