Publications by authors named "Eline Overwater"

13 Publications

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Primrose syndrome: Characterization of the phenotype in 42 patients.

Authors:
Daniela Melis Daniel Carvalho Tina Barbaro-Dieber Alberto J Espay Michael J Gambello Blanca Gener Erica Gerkes Marrit M Hitzert Hanne B Hove Sandra Jansen Petr E Jira Katherine Lachlan Leonie A Menke Vinodh Narayanan Damara Ortiz Eline Overwater Renata Posmyk Keri Ramsey Alessandro Rossi Renata Lazari Sandoval Constance Stumpel Kyra E Stuurman Viviana Cordeddu Peter Turnpenny Pietro Strisciuglio Marco Tartaglia Sheela Unger Todd Waters Clare Turnbull Raoul C Hennekam

Clin Genet 2020 06 20;97(6):890-901. Epub 2020 Apr 20.

Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.

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June 2020

Expanding the spectrum of CEP55-associated disease to viable phenotypes.

Authors:
Elizabeth S Barrie Eline Overwater Mieke M van Haelst M Mahdi Motazacker Kristen V Truxal Erin Crist Roya Mostafavi Eniko K Pivnick Asim F Choudhri TaraChandra Narumanchi Valerie Castelluccio Laurence E Walsh Cheryl Garganta Julie M Gastier-Foster

Am J Med Genet A 2020 05 25;182(5):1201-1208. Epub 2020 Feb 25.

The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio.

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May 2020

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.

Authors:
Luisa Marsili Eline Overwater Nadine Hanna Geneviève Baujat Marieke J H Baars Catherine Boileau Dominique Bonneau Anne Claire Brehin Yline Capri Ho Y Cheung Eelco Dulfer Marion Gerard Laurent Gouya Yvonne Hilhorst-Hofstee Arjan C Houweling Bertrand Isidor Lauriane Le Gloan Leonie A Menke Sylvie Odent Fanny Morice-Picard Clemence Vanlerberghe Els Voorhoeve J Peter van Tintelen Alessandra Maugeri Pauline Arnaud

Clin Genet 2020 05 16;97(5):723-730. Epub 2020 Jan 16.

Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.

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May 2020

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

Authors:
Arjan C Houweling Glenda M Beaman Alex V Postma T Blair Gainous Klaske D Lichtenbelt Francesco Brancati Filipa M Lopes Ingeborg van der Made Abeltje M Polstra Michael L Robinson Kevin D Wright Jamie M Ellingford Ashley R Jackson Eline Overwater Rita Genesio Silvio Romano Letizia Camerota Emanuela D'Angelo Elizabeth J Meijers-Heijboer Vincent M Christoffels Kirk M McHugh Brian L Black William G Newman Adrian S Woolf Esther E Creemers

J Clin Invest 2019 12;129(12):5374-5380

Department of Experimental Cardiology, Amsterdam UMC, Amsterdam, Netherlands.

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December 2019

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

Authors:
Eline Overwater Rifka Efrat Daniela Q C M Barge-Schaapveld Phillis Lakeman Marjan M Weiss Alessandra Maugeri J Peter van Tintelen Arjan C Houweling

Mol Genet Genomic Med 2019 02 28;7(2):e00518. Epub 2018 Nov 28.

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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February 2019

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Authors:
Eline Overwater Luisa Marsili Marieke J H Baars Annette F Baas Irma van de Beek Eelco Dulfer Johanna M van Hagen Yvonne Hilhorst-Hofstee Marlies Kempers Ingrid P Krapels Leonie A Menke Judith M A Verhagen Kak K Yeung Petra J G Zwijnenburg Maarten Groenink Peter van Rijn Marjan M Weiss Els Voorhoeve J Peter van Tintelen Arjan C Houweling Alessandra Maugeri

Hum Mutat 2018 09 12;39(9):1173-1192. Epub 2018 Jul 12.

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

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September 2018

Iris Flocculi and Type B Aortic Dissection.

Authors:
Eline Overwater Arjan C Houweling

Ophthalmology 2017 11;124(11):1711

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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November 2017

Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.

Authors:
Kak K Yeung Natalija Bogunovic Niels Keekstra Adriaan A M Beunders Jorrit Pals Kim van der Kuij Eline Overwater Willem Wisselink Jan D Blankensteijn Victor W M van Hinsbergh Rene J P Musters Gerard Pals Dimitra Micha Behrouz Zandieh-Doulabi

Hum Mutat 2017 04 27;38(4):439-450. Epub 2017 Jan 27.

Department of Oral Cell Biology, ACTA University of Amsterdam and VU University Amsterdam, MOVE Research Institute, Amsterdam, The Netherlands.

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April 2017

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts.

Authors:
Timothy J Satchwell Amanda J Bell Bethan R Hawley Stephanie Pellegrin Kathryn E Mordue Cees Th B M van Deursen Nicole Heitink-Ter Braak Gerwin Huls Mathie P G Leers Eline Overwater Rienk Y J Tamminga Bert van der Zwaag Elisa Fermo Paola Bianchi Richard van Wijk Ashley M Toye

Haematologica 2016 09 31;101(9):1018-27. Epub 2016 May 31.

School of Biochemistry, University of Bristol, UK National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Red Blood Cell Products, University of Bristol, UK

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September 2016

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

Authors:
Doris Milosavljević Eline Overwater Saskia Tamminga Karin de Boer Mariet W Elting Marion E van Hoorn Tuula Rinne Arjan C Houweling

Am J Med Genet A 2016 07 25;170(7):1874-80. Epub 2016 Apr 25.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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July 2016

Germline Mutations in Predisposition Genes in Pediatric Cancer.

Authors:
Abdenasser Bardai Eline Overwater Cora M Aalfs

N Engl J Med 2016 04;374(14):1390-1

Academic Medical Center, Amsterdam, the Netherlands.

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April 2016

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Authors:
Dimitra Micha Dong-Chuan Guo Yvonne Hilhorst-Hofstee Fop van Kooten Dian Atmaja Eline Overwater Ferdy K Cayami Ellen S Regalado René van Uffelen Hanka Venselaar Sultana M H Faradz Gerrit Vriend Marjan M Weiss Erik A Sistermans Alessandra Maugeri Dianna M Milewicz Gerard Pals Fleur S van Dijk

Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.

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December 2015

The association of mobile medical team involvement on on-scene times and mortality in trauma patients.

Authors:
Sema Aydin Eline Overwater Teun Peter Saltzherr P H Ping Fung Kon Jin Pieternel van Exter Kees Jan Ponsen Jan S K Luitse J Carel Goslings

J Trauma 2010 Sep;69(3):589-94; discussion 594

Trauma Unit Department of Surgery, Academic Medical Center, Amsterdam, The Netherlands.

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September 2010