Erik C Thorland

Erik C Thorland

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Erik C Thorland

Erik C Thorland

Publications by authors named "Erik C Thorland"

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Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).

Am J Med Genet A 2018 12 22;176(12):2798-2802. Epub 2018 Oct 22.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

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http://doi.wiley.com/10.1002/ajmg.a.40498
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http://dx.doi.org/10.1002/ajmg.a.40498DOI Listing
December 2018

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

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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http://dx.doi.org/10.1212/WNL.0000000000002659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862246PMC
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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http://dx.doi.org/10.1186/s13039-016-0233-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802915PMC
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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http://dx.doi.org/10.1016/j.gendis.2015.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782977PMC
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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http://dx.doi.org/10.1002/ajmg.a.36663DOI Listing
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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http://dx.doi.org/10.1373/clinchem.2013.204149DOI Listing
October 2013

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Genet Med 2011 Jul;13(7):680-5

Fullerton Genetics Center, Mission Health System, 267 McDowell St., Asheville, NC 28803, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3182217a3aDOI Listing
July 2011

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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http://doi.wiley.com/10.1002/ajmg.a.33637
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http://dx.doi.org/10.1002/ajmg.a.33637DOI Listing
October 2010

Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies.

Am J Med Genet A 2007 Oct;143A(20):2357-70

Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1002/ajmg.a.31954DOI Listing
October 2007

Comprehensive validation of array comparative genomic hybridization platforms: how much is enough?

Genet Med 2007 Sep;9(9):632-41

Cytogenetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Genetics and Pathology, Mayo Clinic, 200 First St. SW, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1097/gim.0b013e31814629fcDOI Listing
September 2007

A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.

Clin Chem 2006 Oct 3;52(10):1864-70. Epub 2006 Aug 3.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55901, USA.

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http://dx.doi.org/10.1373/clinchem.2006.072397DOI Listing
October 2006

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.

Biochem Biophys Res Commun 2006 Jan;339(3):755-60

Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute, 10901 N Torrey Pines Road, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/j.bbrc.2005.11.073DOI Listing
January 2006

Common fragile sites are preferential targets for HPV16 integrations in cervical tumors.

Oncogene 2003 Feb;22(8):1225-37

Department of Biochemistry and Molecular Biology Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1038/sj.onc.1206170DOI Listing
February 2003

Evidence that instability within the FRA3B region extends four megabases.

Oncogene 2002 Dec;21(57):8713-22

Department of Experimental Pathology, Mayo Foundation, Rochester, Minnesota, MN 55905, USA.

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http://dx.doi.org/10.1038/sj.onc.1205950DOI Listing
December 2002