Publications by authors named "Kathleen Leppig"

43Publications

Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience.

Genet Med 2020 Oct 18;22(10):1667-1672. Epub 2020 Jun 18.

Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN, USA.

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http://dx.doi.org/10.1038/s41436-020-0863-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521988PMC
October 2020

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Collaborations in medical genetics: 10-Year history of an ongoing Vietnamese-North American Collaboration.

Mol Genet Genomic Med 2018 03;6(2):129-133

Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1002/mgg3.383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902404PMC
March 2018

Building a family network from genetic testing.

Mol Genet Genomic Med 2017 Mar 29;5(2):122-129. Epub 2016 Dec 29.

Department of Medicine (Medical Genetics) and Genomic Sciences University of Washington Seattle WA 98195 USA.

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http://dx.doi.org/10.1002/mgg3.259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370219PMC
March 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.

Skeletal Radiol 2012 May 4;41(5):607-10. Epub 2011 Sep 4.

Orthopaedics and Sports Medicine, Seattle Children's Hospital, 4800 Sandpoint Way NE, Seattle, WA 98105, USA.

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http://dx.doi.org/10.1007/s00256-011-1261-9DOI Listing
May 2012

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.

Birth Defects Res A Clin Mol Teratol 2006 Feb;76(2):78-85

Children's Craniofacial Center, Children's Hospital and Regional Medical Center, Seattle, Washington 98195-6320, USA.

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http://doi.wiley.com/10.1002/bdra.20231
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http://dx.doi.org/10.1002/bdra.20231DOI Listing
February 2006

Sacral hemangioblastoma in a patient with von Hippel-Lindau disease. Case report and review of the literature.

Neurosurg Focus 2003 Aug 15;15(2):E11. Epub 2003 Aug 15.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1414, USA.

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http://dx.doi.org/10.3171/foc.2003.15.2.11DOI Listing
August 2003

Phenotype and X inactivation in 45,X/46,X,r(X) cases.

Am J Med Genet A 2004 Jul;128A(3):276-84

Genetic Services, Group Health Permanente, Seattle, Washington 98112, USA.

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http://dx.doi.org/10.1002/ajmg.a.30002DOI Listing
July 2004

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

Am J Med Genet 2002 Feb;108(1):51-6

Division of Genetics and Development, Department of Pediatrics, University of Washington and Children's Hospital and Regional Medical Center, Seattle, Washington 98105, USA.

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http://dx.doi.org/10.1002/ajmg.10185DOI Listing
February 2002