Publications by authors named "Klaas J Wierenga"

39Publications

mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.

Pediatr Hematol Oncol 2020 Aug 13;37(5):431-437. Epub 2020 Mar 13.

Jimmy Everest Section of Pediatric Hematology/Oncology, Department of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.

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http://dx.doi.org/10.1080/08880018.2020.1737284DOI Listing
August 2020

A neonate with mucolipidosis II and transient secondary hyperparathyroidism.

J Pediatr Endocrinol Metab 2019 Dec;32(12):1399-1402

University of Miami Miller School of Medicine, Division of Pediatric Endocrinology, 1601 NW 12th Avenue, Suite 3044A, Miami, FL 33136-1015, USA, Phone: +1-305-243-5707, Fax: +1-305-243-6309.

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http://dx.doi.org/10.1515/jpem-2019-0162DOI Listing
December 2019

The first case of deafness-dystonia syndrome due to compound heterozygous variants in .

Clin Case Rep 2018 Sep 26;6(9):1815-1817. Epub 2018 Jul 26.

Section of Genetics Department of Pediatrics University of Oklahoma Health Sciences Center Oklahoma City Oklahoma.

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http://doi.wiley.com/10.1002/ccr3.1719
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http://dx.doi.org/10.1002/ccr3.1719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132111PMC
September 2018

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.

Am J Hum Genet 2018 06 31;102(6):1158-1168. Epub 2018 May 31.

Department of Neuroscience and Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992132PMC
June 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Inferred inheritance of MorbidMap genes without OMIM clinical synopsis.

Genet Med 2018 04 24;20(4):470-473. Epub 2017 Aug 24.

Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.

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http://dx.doi.org/10.1038/gim.2017.131DOI Listing
April 2018

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.

Pediatr Blood Cancer 2017 Sep 28;64(9). Epub 2017 Apr 28.

Jimmy Everest Section of Pediatric Hematology-Oncology and Bone Marrow Transplant, Oklahoma University Health Science Center, Oklahoma City, OK.

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http://dx.doi.org/10.1002/pbc.26571DOI Listing
September 2017

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

J Mol Diagn 2016 05 2;18(3):446-453. Epub 2016 Mar 2.

Baylor Miraca Genetics Laboratories, Houston, Texas; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.01.002DOI Listing
May 2016

Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures.

Epilepsy Behav Case Rep 2013 1;1:35-8. Epub 2013 Mar 1.

Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

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http://dx.doi.org/10.1016/j.ebcr.2013.01.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150641PMC
February 2015

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

Genet Med 2013 May 25;15(5):354-60. Epub 2012 Oct 25.

Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK, USA.

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http://dx.doi.org/10.1038/gim.2012.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908554PMC
May 2013

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.

2012 Nov 14;158A(11):2935-40. Epub 2012 Sep 14.

College of Medicine, University of Oklahoma, Oklahoma City, Oklahoma, USA.

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http://dx.doi.org/10.1002/ajmg.a.35613DOI Listing
November 2012

Galactose toxicity in animals.

IUBMB Life 2009 Nov;61(11):1063-74

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1002/iub.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2788023PMC
November 2009

High-throughput screening for human galactokinase inhibitors.

J Biomol Screen 2008 Jun 19;13(5):415-23. Epub 2008 May 19.

Department of Pediatrics, Leonard M. Miller School of Medicine, University of Miami, Miami, Florida 33101, USA.

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http://dx.doi.org/10.1177/1087057108318331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2705177PMC
June 2008