Publications by authors named "Erik C Thorland"

42 Publications

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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January 2017

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.

Neurology 2016 05 13;86(19):1762-71. Epub 2016 Apr 13.

From the Departments of Neurology, Peripheral Nerve Division (W.W., P.J.D., C.J.K.), Department of Health Science Research (C.W., S.B., J.M.E.), Laboratory Medicine and Pathology (D.B.D., E.C.T., P.A.L., Y.W., C.J.K.), Medical Genome Facility (B.W.E., Y.W.), and Medical Genetics (C.J.K., D.B.D.), Mayo Clinic, Rochester, MN; Department of Neurology (W.W.), China-Japan Friendship Hospital, Beijing, China; and Department of Neurology (S.S.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.

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May 2016

Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features.

Mol Cytogenet 2016 22;9:26. Epub 2016 Mar 22.

Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA.

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March 2016

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

Genes Dis 2015 Dec 21;2(4):347-352. Epub 2015 Sep 21.

Department of Surgery, University of Chicago, 5841 S. Maryland Ave, M/C 0077, Chicago, IL 60637.

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December 2015

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.

Am J Med Genet A 2014 Oct 26;164A(10):2514-20. Epub 2014 Jun 26.

Cytogenetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

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October 2014

Prenatal diagnosis of chromosome abnormalities: past, present, and future.

Clin Chem 2013 Oct 15;59(10):1432-4. Epub 2013 Jul 15.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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October 2013

Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype.

Am J Med Genet A 2010 Oct;152A(10):2623-7

Mayo Medical School, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.

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October 2010