Publications by authors named "Jeske J T van Harssel"

4Publications

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Authors:
Aida Telegrafi Bryn D Webb Sarah M Robbins Carlos E Speck-Martins David FitzPatrick Leah Fleming Richard Redett Andreas Dufke Gunnar Houge Jeske J T van Harssel Alain Verloes Angela Robles Irini Manoli Elizabeth C Engle Ethylin W Jabs David Valle John Carey Julie E Hoover-Fong Nara L M Sobreira

Am J Med Genet A 2017 Oct 4;173(10):2763-2771. Epub 2017 Aug 4.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

View Article and Find Full Text PDF
October 2017

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Authors:
Magdalena Harakalova Jeske J T van Harssel Paulien A Terhal Stef van Lieshout Karen Duran Ivo Renkens David J Amor Louise C Wilson Edwin P Kirk Claire L S Turner Debbie Shears Sixto Garcia-Minaur Melissa M Lees Alison Ross Hanka Venselaar Gert Vriend Hiroki Takanari Martin B Rook Marcel A G van der Heyden Folkert W Asselbergs Hans M Breur Marielle E Swinkels Ingrid J Scurr Sarah F Smithson Nine V Knoers Jasper J van der Smagt Isaac J Nijman Wigard P Kloosterman Mieke M van Haelst Gijs van Haaften Edwin Cuppen

Nat Genet 2012 May 18;44(7):793-6. Epub 2012 May 18.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article and Find Full Text PDF
May 2012

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.

Authors:
Sietske H G Kevelam Jeske J T van Harssel Bert van der Zwaag Hubertus J M Smeets Aimee D C Paulussen Klaske D Lichtenbelt

Am J Med Genet A 2012 Jan 21;158A(1):166-73. Epub 2011 Nov 21.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article and Find Full Text PDF
January 2012

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

Authors:
Ingo Kurth Eva Klopocki Sigmar Stricker Jolieke van Oosterwijk Sebastian Vanek Jens Altmann Heliosa G Santos Jeske J T van Harssel Thomy de Ravel Andrew O M Wilkie Andreas Gal Stefan Mundlos

Nat Genet 2009 Aug;41(8):862-3

View Article and Find Full Text PDF
August 2009