Publications by authors named "Lorette O M Hulsman"

4Publications

Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability.

Authors:
Laura J C M van Zutven Grazia M S Mancini Karen G C B Bindels-de Heus Erica L T van den Akker Lorette O M Hulsman Marjan Smit H Berna Beverloo

Am J Med Genet A 2018 02 11;176(2):492-495. Epub 2017 Dec 11.

Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.

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February 2018

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

Authors:
Paula J P de Vree Elzo de Wit Mehmet Yilmaz Monique van de Heijning Petra Klous Marjon J A M Verstegen Yi Wan Hans Teunissen Peter H L Krijger Geert Geeven Paul P Eijk Daoud Sie Bauke Ylstra Lorette O M Hulsman Marieke F van Dooren Laura J C M van Zutven Ans van den Ouweland Sjef Verbeek Ko Willems van Dijk Marion Cornelissen Atze T Das Ben Berkhout Birgit Sikkema-Raddatz Eva van den Berg Pieter van der Vlies Desiree Weening Johan T den Dunnen Magdalena Matusiak Mohamed Lamkanfi Marjolijn J L Ligtenberg Petra ter Brugge Jos Jonkers John A Foekens John W Martens Rob van der Luijt Hans Kristian Ploos van Amstel Max van Min Erik Splinter Wouter de Laat

Nat Biotechnol 2014 Oct 17;32(10):1019-25. Epub 2014 Aug 17.

1] Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands. [2] Cergentis B.V., Utrecht, the Netherlands.

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October 2014

Phenotypic variability of atypical 22q11.2 deletions not including TBX1.

Authors:
Judith M A Verhagen Karin E M Diderich Grétel Oudesluijs Grazia M S Mancini Alex J Eggink Anna C Verkleij-Hagoort Irene A L Groenenberg Patrick J Willems Frederik A du Plessis Stella A de Man Malgorzata I Srebniak Diane van Opstal Lorette O M Hulsman Laura J C M van Zutven Marja W Wessels

Am J Med Genet A 2012 Oct 14;158A(10):2412-20. Epub 2012 Aug 14.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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October 2012

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

Authors:
Jeroen Knijnenburg Yolande van Bever Lorette O M Hulsman Chantal A P van Kempen Galhana M Bolman Rosa Laura E van Loon H Berna Beverloo Laura J C M van Zutven

Eur J Hum Genet 2012 Sep 7;20(9):986-9. Epub 2012 Mar 7.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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September 2012