Publications by authors named "Koenraad Devriendt"

100Publications

Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.

Eur J Med Genet 2020 Aug 3;63(11):104009. Epub 2020 Aug 3.

Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104009DOI Listing
August 2020

Agnathia otocephaly: A case from the Katanga Copperbelt.

Birth Defects Res 2020 Jul 8. Epub 2020 Jul 8.

Center for Human Genetics, University Hospital, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/bdr2.1758DOI Listing
July 2020

Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa).

Am J Med Genet A 2020 07 14;182(7):1572-1575. Epub 2020 May 14.

Center for Human Genetics, University of Kinshasa, Kinshasa, Congo.

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http://dx.doi.org/10.1002/ajmg.a.61617DOI Listing
July 2020

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.

Eur J Med Genet 2020 May 10;63(5):103875. Epub 2020 Feb 10.

Center for Human Genetics, University Hospitals Leuven, Catholic University Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103875DOI Listing
May 2020

Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies.

Am J Med Genet A 2020 04 7;182(4):632-639. Epub 2020 Jan 7.

Centre for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.61477DOI Listing
April 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Holoprosencephaly: A case series from an area with high mining-related pollution.

Birth Defects Res 2019 11 16;111(19):1561-1563. Epub 2019 Aug 16.

Centre for Environment and Health, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/bdr2.1583DOI Listing
November 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium.

Clin Chem Lab Med 2019 Oct;57(11):e294-e297

Clinical Department of Laboratory Medicine, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium, Phone: 003216347015, Fax: 003216347931.

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http://dx.doi.org/10.1515/cclm-2019-0231DOI Listing
October 2019

Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome.

Am J Med Genet A 2019 03 11;179(3):448-454. Epub 2019 Jan 11.

Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.7DOI Listing
March 2019

First trimester cystic hygroma colli: Retrospective analysis in a tertiary center.

Eur J Obstet Gynecol Reprod Biol 2018 Dec 9;231:60-64. Epub 2018 Oct 9.

Department of obstetrics and gynecology, University Hospitals Leuven, Leuven, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03012115183102
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http://dx.doi.org/10.1016/j.ejogrb.2018.10.019DOI Listing
December 2018

Congenital lateral abdominal wall defect in two Congolese children.

Clin Dysmorphol 2019 Jan;28(1):50-52

Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium.

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http://Insights.ovid.com/crossref?an=00019605-201901000-0001
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http://dx.doi.org/10.1097/MCD.0000000000000239DOI Listing
January 2019

Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.

J Community Genet 2019 Jan 4;10(1):153-159. Epub 2018 Jul 4.

Centre for Human Genetics, University Hospitals, University of Leuven, Herestraat 49, Bus 602, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1007/s12687-018-0374-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325043PMC
January 2019

Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study.

J Craniomaxillofac Surg 2018 Jul 9;46(7):1051-1058. Epub 2018 May 9.

Department of Surgery, (Head: Pr Tshilombo François), Cliniques Universitaires de Lubumbashi, DRC. Electronic address:

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http://dx.doi.org/10.1016/j.jcms.2018.05.006DOI Listing
July 2018

Low-Dose Aripiprazole and Risperidone for Treating Problem Behavior in Children With Pitt-Hopkins Syndrome.

J Clin Psychopharmacol 2018 06;38(3):260-261

University Psychiatric Centre KU Leuven Catholic University of Leuven Leuven, Belgium Centre for Human Genetics Catholic University Leuven Leuven, Belgium.

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http://Insights.ovid.com/crossref?an=00004714-201806000-0001
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http://dx.doi.org/10.1097/JCP.0000000000000871DOI Listing
June 2018

A Novel Missense Variant in the Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.

Mol Syndromol 2017 Dec 12;9(1):22-24. Epub 2017 Aug 12.

Center for Human Genetics, University of Leuven (KU) and University Hospital Leuven (UZ), Leuven, Belgium.

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http://dx.doi.org/10.1159/000479359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803726PMC
December 2017

ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.

Eur J Med Genet 2018 Jul 7;61(7):376-383. Epub 2018 Feb 7.

Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; Leuven Autism Research (LAuRes), Leuven, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173063
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http://dx.doi.org/10.1016/j.ejmg.2018.02.002DOI Listing
July 2018

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Eur J Hum Genet 2018 03 22;26(3):359-366. Epub 2018 Jan 22.

Department of Human Genetics, KU Leuven, O&N I Herestraat 49, box 602, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1038/s41431-017-0032-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839023PMC
March 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP.

Retin Cases Brief Rep 2020 ;14(1):77-81

Department of Ophthalmology, University Hospital Leuven Campus St. Rafaël, University of Leuven (KUL), Leuven, Belgium.

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http://dx.doi.org/10.1097/ICB.0000000000000625DOI Listing
August 2020

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.

Hum Mutat 2017 03 17;38(3):324-331. Epub 2017 Jan 17.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.23150DOI Listing
March 2017

Prenatal and pre-implantation genetic diagnosis.

Nat Rev Genet 2016 09;17(10):643-56

Centre for Human Genetics, Department of Human Genetics, University of Leuven, 49 Herestraat, Leuven 3000, Belgium.

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http://dx.doi.org/10.1038/nrg.2016.97DOI Listing
September 2016

Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.

Am J Med Genet A 2016 11 8;170(11):2975-2983. Epub 2016 Sep 8.

Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37872DOI Listing
November 2016

Growth pattern in Kabuki syndrome with a KMT2D mutation.

Am J Med Genet A 2016 12 17;170(12):3172-3179. Epub 2016 Aug 17.

Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht UMC+, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37930DOI Listing
December 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo.

Clin Dysmorphol 2016 Oct;25(4):178-80

aUnit of Toxicology and Environment, Faculty of Medicine, Department of Public Health Departments of bPediatrics cSurgery, University Hospital of Lubumbashi dCentre for Human Genetics, Faculty of Medicine, University of Lubumbashi eDepartment of Internal Medicine, Service National/Medical Division of the Presidency of the Democratic Republic of the Congo fDepartment of Internal Medicine, University of Kolwezi, Kolwezi, Democratic Republic of the Congo gCentre for Environment and Health, Department of Public Health and Primary Care, KU Leuven hCentre for Human Genetics, University Hospital, KU Leuven, Leuven, Belgium.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000129DOI Listing
October 2016

Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.

Clin Case Rep 2016 03 12;4(3):294-7. Epub 2016 Feb 12.

Center for Human Genetics University Hospitals Leuven Katholieke Universiteit Leuven Leuven Belgium.

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http://doi.wiley.com/10.1002/ccr3.476
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http://dx.doi.org/10.1002/ccr3.476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771852PMC
March 2016

Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.

Horm Res Paediatr 2016 8;85(4):288-90. Epub 2016 Jan 8.

Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1159/000443308DOI Listing
April 2017

Platelet studies in autism spectrum disorder patients and first-degree relatives.

Mol Autism 2015 23;6:57. Epub 2015 Oct 23.

Department of Cardiovascular Sciences, Centre for Molecular and Vascular Biology, KU Leuven, Gasthuisberg Campus, O & N I, Herestraat 49-b911, 3000 Leuven, Belgium ; The LAuRes Consortium, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1186/s13229-015-0051-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619313PMC
October 2015

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.

Am J Med Genet A 2015 Oct 16;167A(10):2451-8. Epub 2015 Jun 16.

Department of Oral Health Sciences-Orthodontics, KU Leuven and Dentistry, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37207DOI Listing
October 2015

Sacrococcygeal appendage with femur: exoparasitic pyropagus twin, mature teratoma, or disorganization-like syndrome?

Clin Dysmorphol 2015 Oct;24(4):173-5

Departments of aSurgery bPediatrics cGynecology dPublic Health, Unit of Toxicology and Environment, School of Public Health, University Hospital eCenter for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi fDepartment of Pediatrics, University Hospitals, University of Kinshasa, Kinshasa, The Democratic Republic of the Congo gCenter for Human Genetics, University Hospitals, KU Leuven, Leuven, Belgium.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000086DOI Listing
October 2015

Mirror-image gastroschisis in monochorionic female twins.

Eur J Med Genet 2015 Apr 14;58(4):266-9. Epub 2015 Mar 14.

Center for Human Genetics, University Hospitals, KU Leuven, P.O. Box 602, 3000 Leuven, Belgium; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, Democratic Republic of the Congo.

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http://dx.doi.org/10.1016/j.ejmg.2015.03.001DOI Listing
April 2015

MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.

Am J Med Genet A 2015 May 25;167A(5):1142-6. Epub 2015 Feb 25.

Department of Congenital and Pediatric Cardiology, University Hospitals Leuven, Belgium; Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.36989
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http://dx.doi.org/10.1002/ajmg.a.36989DOI Listing
May 2015

Ophthalmological Findings in 6p Deletion Syndrome.

Ophthalmic Genet 2015 Jun 12;36(2):165-7. Epub 2015 Feb 12.

Departments of Ophthalmology .

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http://dx.doi.org/10.3109/13816810.2015.1010735DOI Listing
June 2015

Focus group discussions on secondary variants and next-generation sequencing technologies.

Eur J Med Genet 2015 Apr 3;58(4):249-57. Epub 2015 Feb 3.

Centre for Biomedical Ethics and Law, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2015.01.007DOI Listing
April 2015

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

Eur J Med Genet 2015 Apr 3;58(4):244-8. Epub 2015 Feb 3.

Centre of Human Genetics, University Hospitals Leuven, Belgium & Department of Human Genetics, KU Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2015.01.008DOI Listing
April 2015

Meningocele in a congolese female with beckwith-wiedemann phenotype.

Case Rep Genet 2014 28;2014:989425. Epub 2014 Dec 28.

Center for Human Genetics, University Hospital, KU Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1155/2014/989425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290800PMC
January 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions.

Med Health Care Philos 2015 Aug;18(3):361-70

Centre for Biomedical Ethics and Law, KU Leuven, Kapucijnenvoer 35, 3000, Leuven, Belgium,

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http://link.springer.com/10.1007/s11019-014-9611-8
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http://dx.doi.org/10.1007/s11019-014-9611-8DOI Listing
August 2015

Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa.

Case Rep Genet 2014 1;2014:365031. Epub 2014 Sep 1.

Center for Human Genetics, University Hospitals, KU Leuven, UZ Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1155/2014/365031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164427PMC
September 2014

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Eur J Med Genet 2014 Oct 3;57(10):587-95. Epub 2014 Sep 3.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Southeast Scotland Clinical Genetics Services, Western General Hospital, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.08.007DOI Listing
October 2014

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

Eur J Hum Genet 2015 Apr 16;23(4):551-4. Epub 2014 Jul 16.

Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2014.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666577PMC
April 2015

Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.

Eur J Med Genet 2014 Sep 24;57(9):532-5. Epub 2014 Jun 24.

Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2014.06.004DOI Listing
September 2014

Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions.

J Clin Endocrinol Metab 2014 Jul 26;99(7):E1361-7. Epub 2014 Mar 26.

Institut National de la Santé et de la Recherche Médicale (H.A.M.M., L.M., M.L.), Unité 693, Faculté de Médecine Paris-Sud, 94276 Le Kremlin-Bicêtre, France; PremUP Foundation (L.M., M.L.), 75014 Paris, France; Departments of Pharmacology and Toxicology (H.A.M.M., J.C.L.M.P., R.M.), Physiology (L.A.H.M.), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands; and Departments of Pediatrics and Growth and Regeneration (E.N.L., K.A.) and Center for Human Genetics (K.D.), University Hospitals Leuven and Katholieke Universiteit Leuven, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1210/jc.2014-1123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373678PMC
July 2014

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Am J Med Genet A 2014 Jun 25;164A(6):1576-9. Epub 2014 Mar 25.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.36486DOI Listing
June 2014

A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.

Eur J Med Genet 2014 Mar 28;57(4):169-73. Epub 2014 Jan 28.

Centre for Human Genetics, University Hospitals, University of Leuven, P.O. Box 602, 3000 Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.01.004DOI Listing
March 2014

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.

Neurology 2013 Nov 30;81(22):1953-8. Epub 2013 Oct 30.

From the Neurogenetics Group, VIB-Department of Molecular Genetics (I.M., T.D., P.D.J., J.B.), and Laboratory of Neurogenetics, Institute Born-Bunge (I.M., T.D., P.D.J., J.B.), University of Antwerp, Antwerpen, Belgium; University of Athens (A.D.); Attiko University Hospital (A.D.), Athens, Greece; Institute of Myology (T.V.), Paris, France; Department of Pediatric Neurology (U.S.), University of Essen, Essen, Germany; Centre for Human Genetics (K.D.), Department of Nephrology and Renal Transplantation (B.M.), and Pathology (E.L.), University Hospitals Leuven, Leuven, Belgium; Department of Imaging and Pathology (E.L.), KU Leuven, Leuven, Belgium; and Department of Neurology (P.D.J., J.B.), Antwerp University Hospital, Antwerpen, Belgium.

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http://dx.doi.org/10.1212/01.wnl.0000436615.58705.c9DOI Listing
November 2013

Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.

Am J Med Genet A 2013 Nov 10;161A(11):2846-54. Epub 2013 Oct 10.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.36209DOI Listing
November 2013

Disclosing incidental findings in genetics contexts: a review of the empirical ethical research.

Eur J Med Genet 2013 Oct 11;56(10):529-40. Epub 2013 Sep 11.

Centre for Biomedical Ethics and Law, Catholic University of Leuven, Kapucijnenvoer 35, Leuven 3000, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.08.006DOI Listing
October 2013

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

Eur J Med Genet 2013 Jul 27;56(7):379-82. Epub 2013 May 27.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2013.05.005DOI Listing
July 2013

Secondary variants--in defense of a more fitting term in the incidental findings debate.

Eur J Hum Genet 2013 Dec 22;21(12):1331-4. Epub 2013 May 22.

Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, Catholic University of Leuven, Leuven, Belgium.

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http://www.nature.com/articles/ejhg201389
Publisher Site
http://dx.doi.org/10.1038/ejhg.2013.89DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831086PMC
December 2013

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Am J Hum Genet 2012 Dec 15;91(6):1122-7. Epub 2012 Nov 15.

Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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Source
http://dx.doi.org/10.1016/j.ajhg.2012.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516611PMC
December 2012