Mieke M van Haelst

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

Genet Med 2020 Oct 20. Epub 2020 Oct 20.

Department of Pediatrics, University of Montreal, Montreal, QC, Canada.

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http://dx.doi.org/10.1038/s41436-020-00992-z	DOI Listing

October 2020

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain.

Authors:

Mathew A Coban Patrick R Blackburn Murray L Whitelaw Mieke M van Haelst Paldeep S Atwal Thomas R Caulfield

Biomolecules 2020 Sep 12;10(9). Epub 2020 Sep 12.

Department of Cancer Biology, Mayo Clinic, Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.3390/biom10091314	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563489	PMC

September 2020

Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.

Authors:

Niels Vos Sabrina M Oussaada Mellody I Cooiman Lotte Kleinendorst Kasper W Ter Horst Eric J Hazebroek Johannes A Romijn Mireille J Serlie Marcel M A M Mannens Mieke M van Haelst

Curr Diab Rep 2020 07 30;20(9):44. Epub 2020 Jul 30.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s11892-020-01327-7	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7391392	PMC

July 2020

Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol.

Authors:

Eline A Verberne Meindert E Manshande Nadjah F Wagner-Buitenweg Wallid Elhage Hilda Holtsema Mieke M van Haelst

Clin Dysmorphol 2020 Oct;29(4):182-185

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0000000000000331	DOI Listing

October 2020

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.

Authors:

Eline A Verberne Sonja Faries Marcel M A M Mannens Alex V Postma Mieke M van Haelst

Am J Med Genet A 2020 08 28;182(8):1952-1956. Epub 2020 May 28.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61632	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496482	PMC

August 2020

Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome.

Authors:

Lotte Kleinendorst Lieke M van den Heuvel Lidewij Henneman Mieke M van Haelst

Eur J Hum Genet 2020 Sep 15;28(9):1196-1204. Epub 2020 May 15.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41431-020-0644-6	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608422	PMC

September 2020

mutations in the X-linked gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

Authors:

Daphné Lehalle Pierre Vabres Arthur Sorlin Tatjana Bierhals Magali Avila Virginie Carmignac Martin Chevarin Erin Torti Yuichi Abe Tobias Bartolomaeus Jill Clayton-Smith Benjamin Cogné Ivon Cusco Laurence Duplomb Eveline De Bont Yannis Duffourd Floor Duijkers Orly Elpeleg Aviva Fattal David Geneviève Maria J Guillen Sacoto Anne Guimier David J Harris Maja Hempel Bertrand Isidor Thibaud Jouan Paul Kuentz Eriko Koshimizu Klaske Lichtenbelt Valerie Loik Ramey Miriam Maik Sakoto Miyakate Yoshiko Murakami Laurent Pasquier Helio Pedro Laurie Simone Krista Sondergaard-Schatz Judith St-Onge Julien Thevenon Irene Valenzuela Rami Abou Jamra Koen van Gassen Mieke M van Haelst Silvana van Koningsbruggen Edgard Verdura Christa Whelan Habela Pia Zacher Jean-Baptiste Rivière Christel Thauvin-Robinet Joerg Betschinger Laurence Faivre

J Med Genet 2020 May 14. Epub 2020 May 14.

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.

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http://dx.doi.org/10.1136/jmedgenet-2019-106508	DOI Listing

May 2020

Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.

Authors:

Lotte Kleinendorst Ozair Abawi Bibian van der Voorn Mieke H T M Jongejan Annelies E Brandsma Jenny A Visser Elisabeth F C van Rossum Bert van der Zwaag Mariëlle Alders Elles M J Boon Mieke M van Haelst Erica L T van den Akker

PLoS One 2020 8;15(5):e0232990. Epub 2020 May 8.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0232990	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209105	PMC

August 2020

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.

Authors:

Eline A Verberne Lotje Dalen Meurs Nicole I Wolf Mieke M van Haelst

Am J Med Genet A 2020 07 22;182(7):1776-1779. Epub 2020 Apr 22.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61600	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318643	PMC

July 2020

Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74.

Authors:

Lotte Kleinendorst Sanne I M Alsters Ozair Abawi Quinten Waisfisz Elles M J Boon Erica L T van den Akker Mieke M van Haelst

Eur J Hum Genet 2020 Jul 6;28(7):943-946. Epub 2020 Mar 6.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41431-020-0594-z	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316806	PMC

July 2020

Three-dimensional facial morphology in Cantú syndrome.

Authors:

Helen I Roessler Kathleen Shields Dorothy K Grange Nine V A M Knoers Gijs van Haaften Peter Hammond Mieke M van Haelst

Am J Med Genet A 2020 05 26;182(5):1041-1052. Epub 2020 Feb 26.

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

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http://dx.doi.org/10.1002/ajmg.a.61517	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217184	PMC

May 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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http://dx.doi.org/10.1002/ajmg.a.61512	DOI Listing

May 2020

Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.

Authors:

Patrick R Blackburn Adrienne E Sullivan Alexis G Gerassimou Lotte Kleinendorst David C Bersten Mellody Cooiman Kimberly G Harris Klaas J Wierenga Eric W Klee Jay A van Gerpen Owen A Ross Mieke M van Haelst Murray L Whitelaw Thomas R Caulfield Paldeep S Atwal

J Clin Endocrinol Metab 2020 01;105(1)

Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida.

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http://dx.doi.org/10.1210/clinem/dgz192	DOI Listing

January 2020

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

Authors:

Dorothy K Grange Helen I Roessler Conor McClenaghan Karen Duran Kathleen Shields Maria S Remedi Nine V A M Knoers Jin-Moo Lee Edwin P Kirk Ingrid Scurr Sarah F Smithson Gautam K Singh Mieke M van Haelst Colin G Nichols Gijs van Haaften

Am J Med Genet C Semin Med Genet 2019 12;181(4):658-681

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

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http://dx.doi.org/10.1002/ajmg.c.31753	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654223	PMC

December 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 L T van den Akker Mieke M van Haelst

Eur J Endocrinol 2020 Jan;182(1):47-56

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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

January 2020

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_19	DOI Listing

October 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	Publisher Site
http://dx.doi.org/10.1159/000499978	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6758708	PMC

February 2020

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.2019.05.066	DOI Listing

August 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 06 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/mgg3.632	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565551	PMC

June 2019

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

Authors:

Lotte Kleinendorst Marthe Sno Mieke M van Haelst

Ned Tijdschr Geneeskd 2019 03 21;163. Epub 2019 Mar 21.

Amsterdam UMC, Universiteit van Amsterdam, Klinische Genetica.

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March 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.12836	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850662	PMC

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 05 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/s41431-018-0292-2	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462006	PMC

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.2018.12.012	DOI Listing

March 2019

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.035469	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215435	PMC

October 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.40486	DOI Listing

November 2018

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/s41440-018-0094-5	DOI Listing

November 2018

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

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/s00467-018-3958-7	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132874	PMC

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	Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2018-105315	DOI Listing

September 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	Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38672	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881	PMC

May 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.0000000000000219	DOI Listing

July 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-2017-221067	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747791	PMC

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-2016-104509	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050	PMC

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.M116.772038	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427269	PMC

May 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/s00439-017-1772-0	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360844	PMC

April 2017

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

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

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http://dx.doi.org/10.1172/JCI90259	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5330740	PMC

March 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.2016.185	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386410	PMC

April 2017

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/ddw082	DOI Listing

June 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.37818	DOI Listing

September 2016

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

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.2016.03.002	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863473	PMC

May 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.2016.14	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989203	PMC

August 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/10.1155/2016/2861653	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752968	PMC

March 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.37598	DOI Listing

June 2016

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	Publisher Site
http://dx.doi.org/10.1038/gim.2015.200	DOI Listing

September 2016

Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

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

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http://dx.doi.org/10.1038/ejhg.2015.130	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538192	PMC

September 2015

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.0131417	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485893	PMC

March 2016

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

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.2015.05.017	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572501	PMC

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-x	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450497	PMC

June 2015

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

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.2015.04.002	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570289	PMC

May 2015

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

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.2014.253	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538199	PMC

September 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-14085	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020988	PMC

June 2014

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	Publisher Site
http://dx.doi.org/10.1038/ejhg.2014.69	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266749	PMC

January 2015

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/mgg3.52	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960055	PMC

March 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.36184	DOI Listing

January 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.36202	DOI 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.36119	DOI 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	Publisher Site
http://dx.doi.org/10.1038/ejhg.2012.117	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522206	PMC