Ernie Bongers

Ernie Bongers

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Ernie Bongers

Ernie Bongers

Publications by authors named "Ernie Bongers"

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Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.

Am J Kidney Dis 2019 Mar 18;73(3):400-403. Epub 2018 Sep 18.

Department of Nephrology, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1053/j.ajkd.2018.06.034DOI Listing
March 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies.

J Proteomics 2019 02 30;192:27-36. Epub 2018 Jul 30.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jprot.2018.07.008DOI Listing
February 2019

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Thiazide Responsiveness Testing in Patients With Renal Magnesium Wasting and Correlation With Genetic Analysis: A Diagnostic Test Study.

Am J Kidney Dis 2016 07 29;68(1):168-70. Epub 2016 Jan 29.

Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1053/j.ajkd.2015.12.023DOI Listing
July 2016

Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study.

Birth Defects Res A Clin Mol Teratol 2016 Jul 4;106(7):596-603. Epub 2016 Apr 4.

Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/bdra.23500DOI Listing
July 2016

Genetic, environmental, and epigenetic factors involved in CAKUT.

Nat Rev Nephrol 2015 Dec 18;11(12):720-31. Epub 2015 Aug 18.

Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, PO Box 85090, 3508 AB, Utrecht, Netherlands.

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http://dx.doi.org/10.1038/nrneph.2015.140DOI Listing
December 2015

Meier-Gorlin syndrome.

Orphanet J Rare Dis 2015 Sep 17;10:114. Epub 2015 Sep 17.

Department of Human Genetics 836, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0322-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574002PMC
September 2015

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Hum Genet 2014 Aug 13;133(8):997-1009. Epub 2014 Apr 13.

Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.

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http://dx.doi.org/10.1007/s00439-014-1444-2DOI Listing
August 2014

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Am J Med Genet A 2014 Jul 26;164A(7):1627-34. Epub 2014 Mar 26.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36501DOI Listing
July 2014

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

Am J Med Genet A 2014 Jul 26;164A(7):1622-6. Epub 2014 Mar 26.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1002/ajmg.a.36498DOI Listing
July 2014

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Eur J Hum Genet 2014 Jun 6;22(6):844-6. Epub 2013 Nov 6.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023223PMC
June 2014

Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?

J Clin Endocrinol Metab 2013 Oct 26;98(10):4089-96. Epub 2013 Aug 26.

MD, PhD, Radboud University Nijmegen Medical Centre, Department of Nephrology 464, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1210/jc.2012-3453DOI Listing
October 2013

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

Am J Med Genet A 2012 Nov 20;158A(11):2719-25. Epub 2012 Jul 20.

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19083, USA.

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http://dx.doi.org/10.1002/ajmg.a.35447DOI Listing
November 2012

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

Am J Med Genet A 2009 Feb;149A(4):760-6

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

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http://dx.doi.org/10.1002/ajmg.a.32742DOI Listing
February 2009

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.

Eur J Hum Genet 2008 Oct 16;16(10):1240-4. Epub 2008 Apr 16.

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

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http://www.nature.com/articles/ejhg200883
Publisher Site
http://dx.doi.org/10.1038/ejhg.2008.83DOI Listing
October 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome.

Clin Dysmorphol 2007 Apr;16(2):131-4

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e328014715eDOI Listing
April 2007

Minimal rotation aberrations cause radiographic misdiagnosis of trochlear dysplasia.

Knee Surg Sports Traumatol Arthrosc 2006 Aug 5;14(8):713-7. Epub 2006 Jan 5.

Department of Orthopaedic Surgery, Radboud Hospital, University Medical Centre Nijmegen, P.O. Box 9101, 6500, HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00167-005-0031-4DOI Listing
August 2006

Mutations in the human TBX4 gene cause small patella syndrome.

Am J Hum Genet 2004 Jun 21;74(6):1239-48. Epub 2004 Apr 21.

Department of Human Genetics, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1086/421331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182087PMC
June 2004

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Int J Mol Med 2003 Jul;12(1):79-82

Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy.

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July 2003

Nail-patella syndrome. Overview on clinical and molecular findings.

Pediatr Nephrol 2002 Sep 30;17(9):703-12. Epub 2002 Jul 30.

Department of Human Genetics, University Medical Centre Nijmegen, Netherlands.

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http://dx.doi.org/10.1007/s00467-002-0911-5DOI Listing
September 2002