Nicole Corsten-Janssen

Nicole Corsten-Janssen

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Nicole Corsten-Janssen

Nicole Corsten-Janssen

Publications by authors named "Nicole Corsten-Janssen"

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9Publications

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Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Hum Mutat 2018 12 24;39(12):1875-1884. Epub 2018 Sep 24.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/humu.23627DOI Listing
December 2018

Clinical and molecular effects of CHD7 in the heart.

Am J Med Genet C Semin Med Genet 2017 12 31;175(4):487-495. Epub 2017 Oct 31.

UCL Great Ormond Street Institute of Child Health, Section Developmental Biology of Birth Defects, London, UK.

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http://dx.doi.org/10.1002/ajmg.c.31590DOI Listing
December 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity.

Int J Cardiol Heart Vasc 2016 Sep 25;12:21-25. Epub 2016 May 25.

Pediatric Cardiology, Dana-Dwek Children's Hospital, Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.ijcha.2016.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454153PMC
September 2016

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.

Am J Med Genet A 2014 Dec 24;164A(12):3003-9. Epub 2014 Sep 24.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36747DOI Listing
December 2014