Publications by authors named "Carlo L Marcelis"

46Publications

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Am J Med Genet A 2017 Nov 21;173(11):3022-3028. Epub 2017 Sep 21.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.38485DOI Listing
November 2017

Previous miscarriages and GLI2 are associated with anorectal malformations in offspring.

Hum Reprod 2017 02 5;32(2):299-306. Epub 2017 Jan 5.

Department for Health Evidence (133), Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), P.O. Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1093/humrep/dew327DOI Listing
February 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

Duplications of SLC1A3: Associated with ADHD and autism.

Eur J Med Genet 2016 Aug 11;59(8):373-6. Epub 2016 Jun 11.

Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.06.003DOI Listing
August 2016

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

Eur Heart J 2016 06 24;37(23):1815-22. Epub 2015 Oct 24.

Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, P.O. Box 5800, 6229 GR Maastricht, The Netherlands School for Cardiovascular Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1093/eurheartj/ehv522DOI Listing
June 2016

When is a post-mortem skeletal survey of the fetus indicated, and when not?

J Matern Fetal Neonatal Med 2016 Mar 25;29(6):991-7. Epub 2015 Sep 25.

a Department of Radiology and Nuclear Medicine .

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http://www.tandfonline.com/doi/full/10.3109/14767058.2015.10
Publisher Site
http://dx.doi.org/10.3109/14767058.2015.1029913DOI Listing
March 2016

Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.

J Child Neurol 2015 Oct 11;30(11):1515-9. Epub 2015 Mar 11.

Sleepcenter of Stichting Epilepsie Instellingen Nederland (SEIN), Zwolle, Netherlands.

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http://journals.sagepub.com/doi/10.1177/0883073815573317
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http://dx.doi.org/10.1177/0883073815573317DOI Listing
October 2015

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.

Birth Defects Res C Embryo Today 2014 Dec;102(4):382-400

Department for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/bdrc.21068DOI Listing
December 2014

Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias.

Eur J Pediatr 2015 May 17;174(5):583-7. Epub 2014 Oct 17.

Department for Health Evidence (133), Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s00431-014-2436-xDOI Listing
May 2015

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Am J Med Genet A 2014 Jul 26;164A(7):1627-34. Epub 2014 Mar 26.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36501DOI Listing
July 2014

First results of a European multi-center registry of patients with anorectal malformations.

J Pediatr Surg 2013 Dec;48(12):2530-5

Department of Pediatric Surgery, Radboud University Nijmegen Medical Centre (RUNMC), Nijmegen, The Netherlands; Department of Pediatric Surgery, Sophia Children's Hospital-Erasmus MC, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpedsurg.2013.07.022DOI Listing
December 2013

A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3).

Clin Dysmorphol 2013 Jul;22(3):106-8

Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e328363025cDOI Listing
July 2013

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts.

Eur J Hum Genet 2012 Oct 28;20(10):1018-23. Epub 2012 Mar 28.

Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449067PMC
October 2012

Constructing "best interests": genetic testing of children in families with hypertrophic cardiomyopathy.

Am J Med Genet A 2011 Aug 7;155A(8):1930-8. Epub 2011 Jul 7.

Department of Health, Ethics and Society, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.34107DOI Listing
August 2011

Complete COL1A1 allele deletions in osteogenesis imperfecta.

Genet Med 2010 Nov;12(11):736-41

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/GIM.0b013e3181f01617DOI Listing
November 2010

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Hum Mutat 2008 Sep;29(9):1125-32

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/humu.20750DOI Listing
September 2008

Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings.

Clin Dysmorphol 2007 Apr;16(2):73-6

Department of Human Genetics, University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e3280147130DOI Listing
April 2007

The Currarino triad: the variable expression.

J Pediatr Surg 2005 Aug;40(8):1238-42

Department of Pediatric Surgery, University Hospital, 6202 AZ Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.jpedsurg.2005.05.004DOI Listing
August 2005

Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy.

J Am Coll Cardiol 2003 Mar;41(6):981-6

Department of Genetics and Cell Biology, University of Maastricht, Joseph Bechlaan 113, 6229 GR Maastricht, the Netherlands.

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http://dx.doi.org/10.1016/s0735-1097(02)03005-xDOI Listing
March 2003