Mieke M van Haelst

Mieke M van Haelst

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Publications by authors named "Mieke M van Haelst"

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Genetics of Obesity.

Authors:
Lotte Kleinendorst Mieke M van Haelst Erica L T van den Akker

Exp Suppl 2019 ;111:419-441

Obesity Center CGG, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/978-3-030-25905-1_19DOI Listing
October 2019

Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.

Authors:
Lotte Kleinendorst Ozair Abawi Hetty J van der Kamp Mariëlle Alders Hanne E J Meijers-Heijboer Elisabeth F C van Rossum Erica van den Akker Mieke M van Haelst

Eur J Endocrinol 2019 Oct 1. Epub 2019 Oct 1.

M van Haelst, Clinical Genetics, Amsterdam UMC - Locatie AMC, Amsterdam, Netherlands.

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http://dx.doi.org/10.1530/EJE-19-0678DOI Listing
October 2019

Fetal methotrexate syndrome: A systematic review of case reports.

Authors:
Eline A Verberne Emma de Haan J Peter van Tintelen Dick Lindhout Mieke M van Haelst

Reprod Toxicol 2019 08 8;87:125-139. Epub 2019 Jun 8.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.reprotox.2019.05.066DOI Listing
August 2019

A comprehensive diagnostic approach to detect underlying causes of obesity in adults.

Authors:
Eline S van der Valk Erica L T van den Akker Mesut Savas Lotte Kleinendorst Jenny A Visser Mieke M Van Haelst Arya M Sharma Elisabeth F C van Rossum

Obes Rev 2019 06 1;20(6):795-804. Epub 2019 Mar 1.

Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/obr.12836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850662PMC
June 2019

Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation.

Authors:
Mellody I Cooiman Lotte Kleinendorst Bert van der Zwaag Ignace M C Janssen Frits J Berends Mieke M van Haelst

Mol Genet Genomic Med 2019 Jun 4;7(6):e00632. Epub 2019 May 4.

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

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http://dx.doi.org/10.1002/mgg3.632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565551PMC
June 2019

Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity.

Authors:
Mesut Savas Vincent L Wester Jenny A Visser Lotte Kleinendorst Bert van der Zwaag Mieke M van Haelst Erica L T van den Akker Elisabeth F C van Rossum

Obes Facts 2019 19;12(4):369-384. Epub 2019 Jun 19.

Obesity Center CGG (Centrum Gezond Gewicht), Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands,

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https://www.karger.com/Article/FullText/499978
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http://dx.doi.org/10.1159/000499978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6758708PMC
June 2019

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

Authors:
Sandra Jansen Ilse M van der Werf A Micheil Innes Alexandra Afenjar Pankaj B Agrawal Ilse J Anderson Paldeep S Atwal Ellen van Binsbergen Marie-José van den Boogaard Lucia Castiglia Zeynep H Coban-Akdemir Anke van Dijck Diane Doummar Albertien M van Eerde Anthonie J van Essen Koen L van Gassen Maria J Guillen Sacoto Mieke M van Haelst Ivan Iossifov Jessica L Jackson Elizabeth Judd Charu Kaiwar Boris Keren Eric W Klee Jolien S Klein Wassink-Ruiter Marije E Meuwissen Kristin G Monaghan Sonja A de Munnik Caroline Nava Charlotte W Ockeloen Rosa Pettinato Hilary Racher Tuula Rinne Corrado Romano Victoria R Sanders Rhonda E Schnur Eric J Smeets Alexander P A Stegmann Asbjørg Stray-Pedersen David A Sweetser Paulien A Terhal Kristian Tveten Grace E VanNoy Petra F de Vries Jessica L Waxler Marcia Willing Rolph Pfundt Joris A Veltman R Frank Kooy Lisenka E L M Vissers Bert B A de Vries

Eur J Hum Genet 2019 May 24;27(5):738-746. Epub 2019 Jan 24.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41431-018-0292-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462006PMC
May 2019

The pathogenesis of obesity.

Authors:
Sabrina M Oussaada Katy A van Galen Mellody I Cooiman Lotte Kleinendorst Eric J Hazebroek Mieke M van Haelst Kasper W Ter Horst Mireille J Serlie

Metabolism 2019 03 9;92:26-36. Epub 2019 Jan 9.

Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, location Academic Medical Center, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2018.12.012DOI Listing
March 2019

[A girl with 16p11.2 deletion syndrome].

Authors:
Lotte Kleinendorst Marthe Sno Mieke M van Haelst

Ned Tijdschr Geneeskd 2019 Mar 21;163. Epub 2019 Mar 21.

Amsterdam UMC, Universiteit van Amsterdam, Klinische Genetica.

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March 2019

PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).

Authors:
Kirsten Y Renkema Jonne M Westermann Rutger A J Nievelstein Shirley M Lo-A-Njoe Bert van der Zwaag Meindert E Manshande Mieke M van Haelst

Hypertens Res 2018 Nov 12;41(11):981-988. Epub 2018 Sep 12.

Department of Genetics, Center for Molecular Medicine,University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/s41440-018-0094-5DOI Listing
November 2018

The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.

Authors:
Lotte Kleinendorst Graciela Pi Castán Alfonso Caro-Llopis Elles M J Boon Mieke M van Haelst

Am J Med Genet A 2018 11 20;176(11):2456-2459. Epub 2018 Sep 20.

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

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http://dx.doi.org/10.1002/ajmg.a.40486DOI Listing
November 2018

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

Authors:
Marijn F Stokman Bert van der Zwaag Nicole C A J van de Kar Mieke M van Haelst Albertien M van Eerde Joost W van der Heijden Hester Y Kroes Elly Ippel Annelien J A Schulp Koen L van Gassen Iris A L M van Rooij Rachel H Giles Philip L Beales Ronald Roepman Heleen H Arts Ernie M H F Bongers Kirsten Y Renkema Nine V A M Knoers Jeroen van Reeuwijk Marc R Lilien

Pediatr Nephrol 2018 10 5;33(10):1701-1712. Epub 2018 Jul 5.

Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00467-018-3958-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132874PMC
October 2018

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.

Authors:
Federico Tessadori Helen I Roessler Sanne M C Savelberg Sonja Chocron Sarah M Kamel Karen J Duran Mieke M van Haelst Gijs van Haaften Jeroen Bakkers

Dis Model Mech 2018 10 18;11(10). Epub 2018 Oct 18.

Hubrecht Institute-KNAW and UMC Utrecht, 3584 CT Utrecht, the Netherlands

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http://dx.doi.org/10.1242/dmm.035469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215435PMC
October 2018

Genetic obesity: next-generation sequencing results of 1230 patients with obesity.

Authors:
Lotte Kleinendorst Maarten P G Massink Mellody I Cooiman Mesut Savas Olga H van der Baan-Slootweg Roosje J Roelants Ignace C M Janssen Hanne J Meijers-Heijboer Nine V A M Knoers Hans Kristian Ploos van Amstel Elisabeth F C van Rossum Erica L T van den Akker Gijs van Haaften Bert van der Zwaag Mieke M van Haelst

J Med Genet 2018 09 3;55(9):578-586. Epub 2018 Jul 3.

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

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105315
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http://dx.doi.org/10.1136/jmedgenet-2018-105315DOI Listing
September 2018

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Authors:
Helen I Roessler Catharina M L Volker-Touw Paulien A Terhal Gijs van Haaften Mieke M van Haelst

Clin Dysmorphol 2018 Jul;27(3):78-83

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

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http://dx.doi.org/10.1097/MCD.0000000000000219DOI Listing
July 2018

Williams-Beuren syndrome in diverse populations.

Authors:
Paul Kruszka Antonio R Porras Deise Helena de Souza Angélica Moresco Victoria Huckstadt Ashleigh D Gill Alec P Boyle Tommy Hu Yonit A Addissie Gary T K Mok Cedrik Tekendo-Ngongang Karen Fieggen Eloise J Prijoles Pranoot Tanpaiboon Engela Honey Ho-Ming Luk Ivan F M Lo Meow-Keong Thong Premala Muthukumarasamy Kelly L Jones Khadija Belhassan Karim Ouldim Ihssane El Bouchikhi Laila Bouguenouch Anju Shukla Katta M Girisha Nirmala D Sirisena Vajira H W Dissanayake C Sampath Paththinige Rupesh Mishra Monisha S Kisling Carlos R Ferreira María Beatriz de Herreros Ni-Chung Lee Saumya S Jamuar Angeline Lai Ee Shien Tan Jiin Ying Lim Cham Breana Wen-Min Neerja Gupta Stephanie Lotz-Esquivel Ramsés Badilla-Porras Dalia Farouk Hussen Mona O El Ruby Engy A Ashaat Siddaramappa J Patil Leah Dowsett Alison Eaton A Micheil Innes Vorasuk Shotelersuk Ëben Badoe Ambroise Wonkam María Gabriela Obregon Brian H Y Chung Milana Trubnykova Jorge La Serna Bertha Elena Gallardo Jugo Miguel Chávez Pastor Hugo Hernán Abarca Barriga Andre Megarbane Beth A Kozel Mieke M van Haelst Roger E Stevenson Marshall Summar A Adebowale Adeyemo Colleen A Morris Danilo Moretti-Ferreira Marius George Linguraru Maximilian Muenke

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Young girl with severe early-onset obesity and hyperphagia.

Authors:
Lotte Kleinendorst Mieke M van Haelst Erica L T van den Akker

BMJ Case Rep 2017 Sep 25;2017. Epub 2017 Sep 25.

Pediatric Endocrinology - Obesity Center CGG, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1136/bcr-2017-221067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747791PMC
September 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Authors:
Konrad Platzer Hongjie Yuan Hannah Schütz Alexander Winschel Wenjuan Chen Chun Hu Hirofumi Kusumoto Henrike O Heyne Katherine L Helbig Sha Tang Marcia C Willing Brad T Tinkle Darius J Adams Christel Depienne Boris Keren Cyril Mignot Eirik Frengen Petter Strømme Saskia Biskup Dennis Döcker Tim M Strom Heather C Mefford Candace T Myers Alison M Muir Amy LaCroix Lynette Sadleir Ingrid E Scheffer Eva Brilstra Mieke M van Haelst Jasper J van der Smagt Levinus A Bok Rikke S Møller Uffe B Jensen John J Millichap Anne T Berg Ethan M Goldberg Isabelle De Bie Stephanie Fox Philippe Major Julie R Jones Elaine H Zackai Rami Abou Jamra Arndt Rolfs Richard J Leventer John A Lawson Tony Roscioli Floor E Jansen Emmanuelle Ranza Christian M Korff Anna-Elina Lehesjoki Carolina Courage Tarja Linnankivi Douglas R Smith Christine Stanley Mark Mintz Dianalee McKnight Amy Decker Wen-Hann Tan Mark A Tarnopolsky Lauren I Brady Markus Wolff Lutz Dondit Helio F Pedro Sarah E Parisotto Kelly L Jones Anup D Patel David N Franz Rena Vanzo Elysa Marco Judith D Ranells Nataliya Di Donato William B Dobyns Bodo Laube Stephen F Traynelis Johannes R Lemke

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.

Authors:
Désirée Y van Haaften-Visser Magdalena Harakalova Enric Mocholi Joris M van Montfrans Abdul Elkadri Ester Rieter Karoline Fiedler Peter M van Hasselt Emily M M Triffaux Mieke M van Haelst Isaac J Nijman Wigard P Kloosterman Edward E S Nieuwenhuis Aleixo M Muise Edwin Cuppen Roderick H J Houwen Paul J Coffer

J Biol Chem 2017 05 16;292(19):7904-7920. Epub 2017 Mar 16.

From the Division of Pediatrics, Wilhelmina Children's Hospital,

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http://dx.doi.org/10.1074/jbc.M116.772038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427269PMC
May 2017

Clinical utility gene card for: Cantú syndrome.

Authors:
Edwin P Kirk Ingrid Scurr Gijs van Haaften Mieke M van Haelst Colin G Nichols Maggie Williams Sarah F Smithson Dorothy K Grange

Eur J Hum Genet 2017 04 4;25(4). Epub 2017 Jan 4.

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

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http://dx.doi.org/10.1038/ejhg.2016.185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386410PMC
April 2017

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Authors:
Christel Depienne Caroline Nava Boris Keren Solveig Heide Agnès Rastetter Sandrine Passemard Sandra Chantot-Bastaraud Marie-Laure Moutard Pankaj B Agrawal Grace VanNoy Joan M Stoler David J Amor Thierry Billette de Villemeur Diane Doummar Caroline Alby Valérie Cormier-Daire Catherine Garel Pauline Marzin Sophie Scheidecker Anne de Saint-Martin Edouard Hirsch Christian Korff Armand Bottani Laurence Faivre Alain Verloes Christine Orzechowski Lydie Burglen Bruno Leheup Joelle Roume Joris Andrieux Frenny Sheth Chaitanya Datar Michael J Parker Laurent Pasquier Sylvie Odent Sophie Naudion Marie-Ange Delrue Cédric Le Caignec Marie Vincent Bertrand Isidor Florence Renaldo Fiona Stewart Annick Toutain Udo Koehler Birgit Häckl Celina von Stülpnagel Gerhard Kluger Rikke S Møller Deb Pal Tord Jonson Maria Soller Nienke E Verbeek Mieke M van Haelst Carolien de Kovel Bobby Koeleman Glen Monroe Gijs van Haaften Tania Attié-Bitach Lucile Boutaud Delphine Héron Cyril Mignot

Hum Genet 2017 04 10;136(4):463-479. Epub 2017 Mar 10.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.

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http://dx.doi.org/10.1007/s00439-017-1772-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360844PMC
April 2017

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

Authors:
Noa Lipstein Nanda M Verhoeven-Duif Francesco E Michelassi Nathaniel Calloway Peter M van Hasselt Katarzyna Pienkowska Gijs van Haaften Mieke M van Haelst Ron van Empelen Inge Cuppen Heleen C van Teeseling Annemieke M V Evelein Jacob A Vorstman Sven Thoms Olaf Jahn Karen J Duran Glen R Monroe Timothy A Ryan Holger Taschenberger Jeremy S Dittman Jeong-Seop Rhee Gepke Visser Judith J Jans Nils Brose

J Clin Invest 2017 Mar 13;127(3):1005-1018. Epub 2017 Feb 13.

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http://dx.doi.org/10.1172/JCI90259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5330740PMC
March 2017

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Authors:
Glen R Monroe Gerardus W Frederix Sanne M C Savelberg Tamar I de Vries Karen J Duran Jasper J van der Smagt Paulien A Terhal Peter M van Hasselt Hester Y Kroes Nanda M Verhoeven-Duif Isaäc J Nijman Ellen C Carbo Koen L van Gassen Nine V Knoers Anke M Hövels Mieke M van Haelst Gepke Visser Gijs van Haaften

Genet Med 2016 09 4;18(9):949-56. Epub 2016 Feb 4.

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

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http://www.nature.com/articles/gim2015200
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http://dx.doi.org/10.1038/gim.2015.200DOI Listing
September 2016

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

Authors:
Iris M de Lange Annemarie A Verrijn Stuart Rob B van der Luijt Hans Kristian Ploos van Amstel Mieke M van Haelst

Am J Med Genet A 2016 09 23;170(9):2431-5. Epub 2016 Jun 23.

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

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http://dx.doi.org/10.1002/ajmg.a.37818DOI Listing
September 2016

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Authors:
Tamar I de Vries Glen R Monroe Martine J van Belzen Christian A van der Lans Sanne Mc Savelberg William G Newman Gijs van Haaften Rutger A Nievelstein Mieke M van Haelst

Eur J Hum Genet 2016 08 9;24(9):1363-6. Epub 2016 Mar 9.

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

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http://dx.doi.org/10.1038/ejhg.2016.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989203PMC
August 2016

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

Authors:
Marijn F Stokman Machteld M Oud Ellen van Binsbergen Gisela G Slaats Nayia Nicolaou Kirsten Y Renkema Isaac J Nijman Ronald Roepman Rachel H Giles Heleen H Arts Nine V A M Knoers Mieke M van Haelst

Am J Med Genet A 2016 06 19;170(6):1566-9. Epub 2016 Feb 19.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37598DOI Listing
June 2016

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Authors:
Dragana J Josifova Glen R Monroe Federico Tessadori Esther de Graaff Bert van der Zwaag Sarju G Mehta Magdalena Harakalova Karen J Duran Sanne M C Savelberg Isaäc J Nijman Heinz Jungbluth Casper C Hoogenraad Jeroen Bakkers Nine V Knoers Helen V Firth Philip L Beales Gijs van Haaften Mieke M van Haelst

Hum Mol Genet 2016 06 22;25(11):2158-2167. Epub 2016 Mar 22.

Department of Genetics

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http://dx.doi.org/10.1093/hmg/ddw082DOI Listing
June 2016

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Authors:
Brieana Fregeau Bum Jun Kim Andrés Hernández-García Valerie K Jordan Megan T Cho Rhonda E Schnur Kristin G Monaghan Jane Juusola Jill A Rosenfeld Elizabeth Bhoj Elaine H Zackai Stephanie Sacharow Kristin Barañano Daniëlle G M Bosch Bert B A de Vries Kristin Lindstrom Audrey Schroeder Philip James Peggy Kulch Seema R Lalani Mieke M van Haelst Koen L I van Gassen Ellen van Binsbergen A James Barkovich Daryl A Scott Elliott H Sherr

Am J Hum Genet 2016 May 14;98(5):963-970. Epub 2016 Apr 14.

Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863473PMC
May 2016

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.

Authors:
Suzanne I M Alsters Anthony P Goldstone Jessica L Buxton Anna Zekavati Alona Sosinsky Andrianos M Yiorkas Susan Holder Robert E Klaber Nicola Bridges Mieke M van Haelst Carel W le Roux Andrew J Walley Robin G Walters Michael Mueller Alexandra I F Blakemore

PLoS One 2015 29;10(6):e0131417. Epub 2015 Jun 29.

Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131417PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485893PMC
March 2016

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies.

Authors:
Shirley Lo-A-Njoe Lars T van der Veken Clementien Vermont Louise Rafael-Croes Vincent Keizer Ron Hochstenbach Nine Knoers Mieke M van Haelst

Case Rep Genet 2016 31;2016:2861653. Epub 2016 Jan 31.

Department of Genetics, Wilhelmina Children's Hospital, UMC Utrecht, 3584 EA Utrecht, Netherlands.

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http://dx.doi.org/10.1155/2016/2861653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752968PMC
March 2016

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

Authors:
Charlotte W Ockeloen Marjolein H Willemsen Sonja de Munnik Bregje W M van Bon Nicole de Leeuw Aad Verrips Sarina G Kant Elizabeth A Jones Han G Brunner Rosa L E van Loon Eric E J Smeets Mieke M van Haelst Gijs van Haaften Ann Nordgren Helena Malmgren Giedre Grigelioniene Sascha Vermeer Pedro Louro Lina Ramos Thomas J J Maal Celeste C van Heumen Helger G Yntema Carine E L Carels Tjitske Kleefstra

Eur J Hum Genet 2015 Sep 26;23(9):1176-85. Epub 2014 Nov 26.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538199PMC
September 2015

Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

Authors:
Charlotte W Ockeloen Marjolein H Willemsen Sonja de Munnik Bregje W M van Bon Nicole de Leeuw Aad Verrips Sarina G Kant Elizabeth A Jones Han G Brunner Rosa L E van Loon Eric E J Smeets Mieke M van Haelst Gijs van Haaften Ann Nordgren Helena Malmgren Giedre Grigelioniene Sascha Vermeer Pedro Louro Lina Ramos Thomas J J Maal Celeste C van Heumen Helger G Yntema Carine E L Carels Tjitske Kleefstra

Eur J Hum Genet 2015 Sep;23(9):1270

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http://dx.doi.org/10.1038/ejhg.2015.130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538192PMC
September 2015

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Authors:
Shannon Marchegiani Taylor Davis Federico Tessadori Gijs van Haaften Francesco Brancati Alexander Hoischen Haigen Huang Elise Valkanas Barbara Pusey Denny Schanze Hanka Venselaar Anneke T Vulto-van Silfhout Lynne A Wolfe Cynthia J Tifft Patricia M Zerfas Giovanna Zambruno Ariana Kariminejad Farahnaz Sabbagh-Kermani Janice Lee Maria G Tsokos Chyi-Chia R Lee Victor Ferraz Eduarda Morgana da Silva Cathy A Stevens Nathalie Roche Oliver Bartsch Peter Farndon Eva Bermejo-Sanchez Brian P Brooks Valerie Maduro Bruno Dallapiccola Feliciano J Ramos Hon-Yin Brian Chung Cédric Le Caignec Fabiana Martins Witold K Jacyk Laura Mazzanti Han G Brunner Jeroen Bakkers Shuo Lin May Christine V Malicdan Cornelius F Boerkoel William A Gahl Bert B A de Vries Mieke M van Haelst Martin Zenker Thomas C Markello

Am J Hum Genet 2015 Jul 25;97(1):99-110. Epub 2015 Jun 25.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572501PMC
July 2015

Non-invasive sources of cells with primary cilia from pediatric and adult patients.

Authors:
Henry Ajzenberg Gisela G Slaats Marijn F Stokman Heleen H Arts Ive Logister Hester Y Kroes Kirsten Y Renkema Mieke M van Haelst Paulien A Terhal Iris A van Rooij Mandy G Keijzer-Veen Nine V Knoers Marc R Lilien Michael A Jewett Rachel H Giles

Cilia 2015 1;4. Epub 2015 Jun 1.

Department of Nephrology and Hypertension, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, Netherlands.

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http://dx.doi.org/10.1186/s13630-015-0017-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450497PMC
June 2015

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Authors:
Eugenia Migliavacca Christelle Golzio Katrin Männik Ian Blumenthal Edwin C Oh Louise Harewood Jack A Kosmicki Maria Nicla Loviglio Giuliana Giannuzzi Loyse Hippolyte Anne M Maillard Ali Abdullah Alfaiz Mieke M van Haelst Joris Andrieux James F Gusella Mark J Daly Jacques S Beckmann Sébastien Jacquemont Michael E Talkowski Nicholas Katsanis Alexandre Reymond

Am J Hum Genet 2015 May 30;96(5):784-96. Epub 2015 Apr 30.

Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570289PMC
May 2015

Further confirmation of the MED13L haploinsufficiency syndrome.

Authors:
Mieke M van Haelst Glen R Monroe Karen Duran Ellen van Binsbergen Johannes M Breur Jacques C Giltay Gijs van Haaften

Eur J Hum Genet 2015 Jan 30;23(1):135-8. Epub 2014 Apr 30.

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

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http://www.nature.com/articles/ejhg201469
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http://dx.doi.org/10.1038/ejhg.2014.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266749PMC
January 2015

Ciliary disturbances in syndromal and non-syndromal obesity.

Authors:
Tamar I de Vries Mieke M van Haelst

J Pediatr Genet 2014 Jun;3(2):79-88

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

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http://dx.doi.org/10.3233/PGE-14085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020988PMC
June 2014

Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.

Authors:
W Ludo van der Pol Jolien F Leijenaar Wim G M Spliet Selma W Lavrijsen Nicolaas J G Jansen Kees P J Braun Marcel Mulder Brigitte Timmers-Raaijmakers Kimberly Ratsma Dennis Dooijes Mieke M van Haelst

Mol Genet Genomic Med 2014 Mar 12;2(2):134-7. Epub 2013 Dec 12.

Department of Medical Genetics, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960055PMC
March 2014

A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.

Authors:
Ellen van Binsbergen Richard J Ellis Nadia Abdelmalik Joanna Jarvis Kashmir Randhawa Josephine Wyatt-Ashmead Natalie Canham J Guy Thorpe-Beeston Grazia M S Mancini Mieke M Van Haelst

Am J Med Genet A 2014 Jan 15;164A(1):194-8. Epub 2013 Nov 15.

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

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http://dx.doi.org/10.1002/ajmg.a.36202DOI Listing
January 2014

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

Authors:
Saskia N van der Crabben Magdalena Harakalova Eva H Brilstra Frédérique M C van Berkestijn Floris C Hofstede Adrianus J van Vught Edwin Cuppen Wigard Kloosterman Hans Kristian Ploos van Amstel Gijs van Haaften Mieke M van Haelst

Am J Med Genet A 2014 Jan 20;164A(1):29-35. Epub 2013 Nov 20.

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

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http://dx.doi.org/10.1002/ajmg.a.36184DOI Listing
January 2014

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

Authors:
Denny Schanze Magdalena Harakalova Cathy A Stevens Francesco Brancati Bruno Dallapiccola Peter Farndon Victor E F Ferraz Donna M McDonald-McGinn Elaine H Zackai Michael Wright Stef van Lieshout Maartje J Vogel Mieke M van Haelst Martin Zenker

Am J Med Genet A 2013 Dec 24;161A(12):3012-7. Epub 2013 Sep 24.

Institute of Human Genetics, University Hospital Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36119DOI Listing
December 2013

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

Authors:
Annette F Baas Michael Gabbett Milan Rimac Minttu Kansikas Martine Raphael Rutger Aj Nievelstein Wayne Nicholls Johan Offerhaus Danielle Bodmer Annekatrin Wernstedt Birgit Krabichler Ulrich Strasser Minna Nyström Johannes Zschocke Stephen P Robertson Mieke M van Haelst Katharina Wimmer

Eur J Hum Genet 2013 Jan 13;21(1):55-61. Epub 2012 Jun 13.

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

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http://www.nature.com/doifinder/10.1038/ejhg.2012.117
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http://dx.doi.org/10.1038/ejhg.2012.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522206PMC
January 2013

Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats.

Authors:
Joram D Mul Denovan P Begg Suzanne I M Alsters Gijs van Haaften Karen J Duran David A D'Alessio Carel W le Roux Stephen C Woods Darleen A Sandoval Alexandra I F Blakemore Edwin Cuppen Mieke M van Haelst Randy J Seeley

Am J Physiol Endocrinol Metab 2012 Jul 24;303(1):E103-10. Epub 2012 Apr 24.

Metabolic Diseases Institute, University of Cincinnati, Cincinnati, OH, USA.

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http://dx.doi.org/10.1152/ajpendo.00159.2012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404562PMC
July 2012

Mutations in GRIP1 cause Fraser syndrome.

Authors:
Maartje J Vogel Patrick van Zon Louise Brueton Marleen Gijzen Marc C van Tuil Phillip Cox Denny Schanze Ariana Kariminejad Siavash Ghaderi-Sohi Edward Blair Martin Zenker Peter J Scambler Hans Kristian Ploos van Amstel Mieke M van Haelst

J Med Genet 2012 May 17;49(5):303-6. Epub 2012 Apr 17.

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

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http://dx.doi.org/10.1136/jmedgenet-2011-100590DOI Listing
May 2012

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.

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http://dx.doi.org/10.1038/ng.2324DOI Listing
May 2012

Ablepharon-Macrostomia syndrome--extension of the phenotype.

Authors:
Staci Kallish Donna M McDonald-McGinn Mieke M van Haelst Scott P Bartlett James A Katowitz Elaine H Zackai

Am J Med Genet A 2011 Dec 14;155A(12):3060-2. Epub 2011 Oct 14.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.34287DOI Listing
December 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.

Authors:
Adam J de Smith Mieke M van Haelst Richard J Ellis Susan E Holder Stewart J Payne Sugera K Hashim Philippe Froguel Alexandra I F Blakemore

Am J Med Genet A 2011 May 4;155A(5):1192-5. Epub 2011 Apr 4.

Department of Genomics of Common Disease, Imperial College London, Hammersmith Hospital Campus, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33986
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http://dx.doi.org/10.1002/ajmg.a.33986DOI Listing
May 2011

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.

Authors:
Adam J de Smith Carolin Purmann Robin G Walters Richard J Ellis Susan E Holder Mieke M Van Haelst Angela F Brady Una L Fairbrother Mehul Dattani Julia M Keogh Elana Henning Giles S H Yeo Stephen O'Rahilly Philippe Froguel I Sadaf Farooqi Alexandra I F Blakemore

Hum Mol Genet 2009 Sep 4;18(17):3257-65. Epub 2009 Jun 4.

Section of Genomic Medicine, Imperial College London, Hammersmith Hospital Campus, London, UK.

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http://dx.doi.org/10.1093/hmg/ddp263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722987PMC
September 2009

Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup).

Authors:
Mieke M van Haelst Rubin Wang Piranit N Kantaputra Rodger Palmer Philip Beales

Am J Med Genet A 2009 Feb;149A(4):833-4

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http://dx.doi.org/10.1002/ajmg.a.32722DOI Listing
February 2009

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.

Authors:
Mieke M van Haelst Peter J Scambler Raoul C M Hennekam

Am J Med Genet A 2007 Dec;143A(24):3194-203

Molecular Medicine Unit, Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.31951DOI Listing
December 2007

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Authors:
Stephen P Robertson Zandra A Jenkins Timothy Morgan Lesley Adès Salim Aftimos Odile Boute Torunn Fiskerstrand Sixto Garcia-Miñaur Arthur Grix Andrew Green Vazken Der Kaloustian Ray Lewkonia Brenda McInnes Mieke M van Haelst Grazia Mancini Grazia Macini Tamás Illés Geert Mortier Ruth Newbury-Ecob Linda Nicholson Charles I Scott Karolina Ochman Izabela Brozek Deborah J Shears Andrea Superti-Furga Mohnish Suri Margo Whiteford Andrew O M Wilkie Deborah Krakow

Am J Med Genet A 2006 Aug;140(16):1726-36

Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.31322DOI Listing
August 2006

Familial gigantism caused by an NSD1 mutation.

Authors:
Mieke M van Haelst Jeannette J M Hoogeboom Genevieve Baujat Hennie T Brüggenwirth Ingrid Van de Laar Kim Coleman Nazneen Rahman Martinus F Niermeijer Sten L S Drop Peter J Scambler

Am J Med Genet A 2005 Nov;139(1):40-4

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

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http://dx.doi.org/10.1002/ajmg.a.30973DOI Listing
November 2005

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Authors:
Yanli Fan Muneer A Esmail Stephen J Ansley Oliver E Blacque Keith Boroevich Alison J Ross Susan J Moore Jose L Badano Helen May-Simera Deanna S Compton Jane S Green Richard Alan Lewis Mieke M van Haelst Patrick S Parfrey David L Baillie Philip L Beales Nicholas Katsanis William S Davidson Michel R Leroux

Nat Genet 2004 Sep 15;36(9):989-93. Epub 2004 Aug 15.

Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Drive, Burnaby, B.C. V5A 1S6, Canada.

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http://dx.doi.org/10.1038/ng1414DOI Listing
September 2004