Ilse Feenstra

Ilse Feenstra

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Ilse Feenstra

Ilse Feenstra

Publications by authors named "Ilse Feenstra"

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36Publications

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The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.

Mol Genet Genomic Med 2019 Jun 4;7(6):e660. Epub 2019 Apr 4.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.660
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http://dx.doi.org/10.1002/mgg3.660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565574PMC
June 2019

1 in 38 individuals at risk of a dominant medically actionable disease.

Eur J Hum Genet 2019 02 5;27(2):325-330. Epub 2018 Oct 5.

Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://www.nature.com/articles/s41431-018-0284-2
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http://dx.doi.org/10.1038/s41431-018-0284-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336841PMC
February 2019

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Am J Hum Genet 2018 07 28;103(1):74-88. Epub 2018 Jun 28.

Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037131PMC
July 2018

ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.

JIMD Rep 2018 9;40:11-16. Epub 2017 Sep 9.

Department of Neurology/Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2017_53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122024PMC
September 2017

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Hear Res 2017 04 12;347:56-62. Epub 2017 Jan 12.

Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2016.12.017DOI Listing
April 2017

The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial.

Eur J Hum Genet 2016 10 18;24(10):1409-16. Epub 2016 May 18.

Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2016.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027684PMC
October 2016

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

Ear Hear 2016 Jan-Feb;37(1):103-11

1Department of Otorhinolaryngology, Head and Neck Surgery, Radboud university medical center, Nijmegen, The Netherlands; 2Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; 3Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; 4Donders Institute for Brain, Cognition and Behavior, Radboud University, Nijmegen, The Netherlands; 5Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands; and 6Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/AUD.0000000000000217DOI Listing
September 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Guidelines for diagnostic next-generation sequencing.

Eur J Hum Genet 2016 Jan 28;24(1):2-5. Epub 2015 Oct 28.

University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226PMC
January 2016

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.

Prenat Diagn 2015 Oct 5;35(10):945-9. Epub 2015 Apr 5.

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

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http://doi.wiley.com/10.1002/pd.4593
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http://dx.doi.org/10.1002/pd.4593DOI Listing
October 2015

Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment.

Prenat Diagn 2015 Jun 13;35(6):549-57. Epub 2015 Mar 13.

Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/pd.4571DOI Listing
June 2015

Similar phenotypes caused by mutations in OTOG and OTOGL.

Ear Hear 2014 May-Jun;35(3):e84-91

1Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 4Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain; 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain; 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; 7Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; 9Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA; 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey; and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1097/AUD.0000000000000008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999258PMC
February 2015

The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis.

Eur J Obstet Gynecol Reprod Biol 2014 Nov 30;182:53-61. Epub 2014 Aug 30.

Department of Obstetrics and Gynaecology, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejogrb.2014.08.028DOI Listing
November 2014

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

Eur J Med Genet 2013 Aug 22;56(8):426-31. Epub 2013 May 22.

Department of Paediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2013.05.002DOI Listing
August 2013

Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy.

Obstet Gynecol Int 2013 30;2013:636459. Epub 2013 Apr 30.

Department of Human Genetics, Radboud University Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1155/2013/636459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657422PMC
June 2013

Why do parents prefer to know the fetal sex as part of invasive prenatal testing?

ISRN Obstet Gynecol 2012 12;2012:524537. Epub 2012 Dec 12.

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

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http://dx.doi.org/10.5402/2012/524537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530785PMC
January 2013

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

Neuropsychiatr Dis Treat 2012 12;8:295-300. Epub 2012 Jul 12.

Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.

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http://dx.doi.org/10.2147/NDT.S32903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404708PMC
August 2012

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy.

Eur J Med Genet 2012 May 27;55(5):358-61. Epub 2011 Nov 27.

Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2011.10.005DOI Listing
May 2012

Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

Am J Med Genet A 2007 Aug;143A(16):1858-67

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

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http://dx.doi.org/10.1002/ajmg.a.31850DOI Listing
August 2007