Publications by authors named "Arjan Bouman"

14Publications

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Authors:
Hannah Stamberger Trine B Hammer Elena Gardella Danique R M Vlaskamp Birgitte Bertelsen Simone Mandelstam Iris de Lange Jing Zhang Candace T Myers Christina Fenger Zaid Afawi Edith P Almanza Fuerte Danielle M Andrade Yunus Balcik Bruria Ben Zeev Mark F Bennett Samuel F Berkovic Bertrand Isidor Arjan Bouman Eva Brilstra Øyvind L Busk Anita Cairns Roseline Caumes Nicolas Chatron Russell C Dale Christa de Geus Patrick Edery Deepak Gill Jacob Bie Granild-Jensen Lauren Gunderson Boudewijn Gunning Gali Heimer Johan R Helle Michael S Hildebrand Georgie Hollingsworth Volodymyr Kharytonov Eric W Klee Bobby P C Koeleman David A Koolen Christian Korff Sébastien Küry Gaetan Lesca Dorit Lev Richard J Leventer Mark T Mackay Erica L Macke Meriel McEntagart Shekeeb S Mohammad Pauline Monin Martino Montomoli Eva Morava Sebastien Moutton Alison M Muir Elena Parrini Peter Procopis Emmanuelle Ranza Laura Reed Philipp S Reif Felix Rosenow Massimiliano Rossi Lynette G Sadleir Tara Sadoway Helenius J Schelhaas Amy L Schneider Krati Shah Ruth Shalev Sanjay M Sisodiya Thomas Smol Connie T R M Stumpel Kyra Stuurman Joseph D Symonds Frederic Tran Mau-Them Nienke Verbeek Judith S Verhoeven Geoffrey Wallace Keren Yosovich Yuri A Zarate Ayelet Zerem Sameer M Zuberi Renzo Guerrini Heather C Mefford Chirag Patel Yue-Hua Zhang Rikke S Møller Ingrid E Scheffer

Genet Med 2020 Nov 4. Epub 2020 Nov 4.

Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC, Australia.

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November 2020

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

Authors:
Theodore G Drivas Dong Li Divya Nair Joseph T Alaimo Mariëlle Alders Janine Altmüller Tahsin Stefan Barakat E Martina Bebin Nicole L Bertsch Patrick R Blackburn Alyssa Blesson Arjan M Bouman Knut Brockmann Perrine Brunelle Margit Burmeister Gregory M Cooper Jonas Denecke Anne Dieux-Coëslier Holly Dubbs Alejandro Ferrer Danna Gal Lauren E Bartik Lauren B Gunderson Linda Hasadsri Mahim Jain Catherine Karimov Beth Keena Eric W Klee Katja Kloth Baiba Lace Marina Macchiaiolo Julien L Marcadier Jeff M Milunsky Melanie P Napier Xilma R Ortiz-Gonzalez Pavel N Pichurin Jason Pinner Zoe Powis Chitra Prasad Francesca Clementina Radio Kristen J Rasmussen Deborah L Renaud Eric T Rush Carol Saunders Duygu Selcen Ann R Seman Deepali N Shinde Erica D Smith Thomas Smol Lot Snijders Blok Joan M Stoler Sha Tang Marco Tartaglia Michelle L Thompson Jiddeke M van de Kamp Jingmin Wang Dagmar Weise Karin Weiss Rixa Woitschach Bernd Wollnik Huifang Yan Elaine H Zackai Giuseppe Zampino Philippe Campeau Elizabeth Bhoj

Eur J Hum Genet 2020 Oct 1;28(10):1422-1431. Epub 2020 Jun 1.

Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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October 2020

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Authors:
Enrico D H Konrad Niels Nardini Almuth Caliebe Inga Nagel Dana Young Gabriella Horvath Stephanie L Santoro Christine Shuss Alban Ziegler Dominique Bonneau Marlies Kempers Rolph Pfundt Eric Legius Arjan Bouman Kyra E Stuurman Katrin Õunap Sander Pajusalu Monica H Wojcik Georgia Vasileiou Gwenaël Le Guyader Hege M Schnelle Siren Berland Evelien Zonneveld-Huijssoon Simone Kersten Aditi Gupta Patrick R Blackburn Marissa S Ellingson Matthew J Ferber Radhika Dhamija Eric W Klee Meriel McEntagart Klaske D Lichtenbelt Amy Kenney Samantha A Vergano Rami Abou Jamra Konrad Platzer Mary Ella Pierpont Divya Khattar Robert J Hopkin Richard J Martin Marjolijn C J Jongmans Vivian Y Chang Julian A Martinez-Agosto Outi Kuismin Mitja I Kurki Olli Pietiläinen Aarno Palotie Timothy J Maarup Diana S Johnson Katja Venborg Pedersen Lone W Laulund Sally A Lynch Moira Blyth Katrina Prescott Natalie Canham Rita Ibitoye Eva H Brilstra Marwan Shinawi Emily Fassi Heinrich Sticht Anne Gregor Hilde Van Esch Christiane Zweier

Genet Med 2019 12 26;21(12):2723-2733. Epub 2019 Jun 26.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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December 2019

[Whole Exome Sequencing in daily practice: the possibilities and impossibilities of this diagnostic test].

Authors:
Arjan Bouman Alice S Brooks Marjon A van Slegtenhorst

Ned Tijdschr Geneeskd 2018 11 26;162. Epub 2018 Nov 26.

Erasmus MC, afd. Klinische Genetica, Rotterdam.

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November 2018

Homozygous DMRT2 variant associates with severe rib malformations in a newborn.

Authors:
Arjan Bouman Quinten Waisfisz Jop Admiraal Moniek van de Loo Rick R van Rijn Dimitra Micha Roelof-Jan Oostra Inge B Mathijssen

Am J Med Genet A 2018 05;176(5):1216-1221

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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May 2018

Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates.

Authors:
Peter Henneman Arjan Bouman Adri Mul Lia Knegt Anne-Marie van der Kevie-Kersemaekers Nitash Zwaveling-Soonawala Hanne E J Meijers-Heijboer A S Paul van Trotsenburg Marcel M Mannens

PLoS One 2018 30;13(3):e0194938. Epub 2018 Mar 30.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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July 2018

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element.

Authors:
Arjan Bouman Mieke van Haelst Rosalina van Spaendonk

Clin Dysmorphol 2018 Apr;27(2):58-62

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

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April 2018

Bloom syndrome does not always present with sun-sensitive facial erythema.

Authors:
Arjan Bouman Silvana van Koningsbruggen M Bariş Karakullukcu Willem Hans Schreuder Phillis Lakeman

Eur J Med Genet 2018 Feb 19;61(2):94-97. Epub 2017 Oct 19.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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February 2018

Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.

Authors:
Arjan Bouman Mariëlle Alders Roelof Jan Oostra Elisabeth van Leeuwen Nikki Thuijs Anne-Marie van der Kevie-Kersemaekers Merel van Maarle

Am J Med Genet A 2017 May 3;173(5):1383-1389. Epub 2017 Apr 3.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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May 2017

Trisomy 4 mosaicism: Delineation of the phenotype.

Authors:
Arjan Bouman Anne-Marie van der Kevie-Kersemaekers Karin Huijsdens-van Amsterdam Nordin Dahhan Lia Knegt Fleur Vansenne Jan Maarten Cobben

Am J Med Genet A 2016 Apr 20;170A(4):1040-5. Epub 2016 Jan 20.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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April 2016

Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.

Authors:
Arjan Bouman Lia Knegt Stefan Gröschel Claudia Erpelinck Mathijs Sanders Ruud Delwel Taco Kuijpers Jan Maarten Cobben

Am J Med Genet A 2016 Feb 10;170A(2):504-509. Epub 2015 Nov 10.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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February 2016

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

Authors:
Teresa M Neuhann Annette Stegerer Angelika Riess Edward Blair Thomas Martin Stefanie Wieser Rüdiger Kläs Arjan Bouman Alma Kuechler Olaf Rittinger

Am J Med Genet A 2015 Oct 14;167A(10):2376-81. Epub 2015 May 14.

Klinische Genetik, Universitätskinderklinik, Paracelsus Medizinische Privatuniversität, Salzburg, Austria.

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October 2015

An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation.

Authors:
Arjan Bouman Marjan Weiss Sandra Jansen Margot Hankel Aggie Nieuwint Bauke Adriaanse Jiddeke van de Kamp Gita Tan-Sindhunata

Clin Dysmorphol 2015 Apr;24(2):68-74

aDepartment of Clinical Genetics, AMC Departments of bClinical Genetics cGynaecology, VU University Medical Center, Amsterdam, The Netherlands.

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April 2015

Clinical delineation of a patient with trisomy 12q23q24.

Authors:
Arjan Bouman Anke Schuitema Rolph Pfundt Guillaume van de Zande Tjitske Kleefstra

Eur J Med Genet 2013 Aug 10;56(8):463-9. Epub 2013 Jul 10.

Department of Clinical Genetics, AMC, Amsterdam, The Netherlands.

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August 2013