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Jan Hellemans

Research Profile

Disorders

Physiology

Procedures

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Chemicals & Drugs

Living Beings

Heterozygote

Anatomy

Chromosomes, Human, Pair 12

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Publications

TOP 3
Frauke Coppieters; Ellen De Meester; Nina De Rocker; Bram De Wilde; Jan Hellemans; Steve Lefever; Bart P Leroy; Françoise Meire; Filip Pattyn; Caroline Van Cauwenbergh; Jo Vandesompele; Elfride De Baere
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Sarah De Keulenaer; Joachim De Schrijver; Dieter Deforce; Daisy Flamez; Jan Hellemans; Steve Lefever; Filip Pattyn; Jean-Pierre Renard; Bieke Scharlaken; Mohammad Amin Tabatabaiefar; Guy Van Camp; Wim van Criekinge; Hendrik Van de Voorde; Filip Van Nieuwerburgh; Jo Vandesompele; Sofie Bekaert; Paul Coucke
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.
Joëlle Vermeulen; Katleen De Preter; Steve Lefever; Justine Nuytens; Fanny De Vloed; Stefaan Derveaux; Jan Hellemans; Frank Speleman; Jo Vandesompele
Measurable impact of RNA quality on gene expression results from quantitative PCR.

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All Publications

2012: Frauke Coppieters; Ellen De Meester; Nina De Rocker; Bram De Wilde; Jan Hellemans; Steve Lefever; Bart P Leroy; Françoise Meire; Filip Pattyn; Caroline Van Cauwenbergh; Jo Vandesompele; Elfride De Baere
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(6):576-85.
2012: Sarah De Keulenaer; Joachim De Schrijver; Dieter Deforce; Daisy Flamez; Jan Hellemans; Steve Lefever; Filip Pattyn; Jean-Pierre Renard; Bieke Scharlaken; Mohammad Amin Tabatabaiefar; Guy Van Camp; Wim van Criekinge; Hendrik Van de Voorde; Filip Van Nieuwerburgh; Jo Vandesompele; Sofie Bekaert; Paul Coucke
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.
BMC medical genomics 2012;5():17.
2011: Joëlle Vermeulen; Katleen De Preter; Steve Lefever; Justine Nuytens; Fanny De Vloed; Stefaan Derveaux; Jan Hellemans; Frank Speleman; Jo Vandesompele
Measurable impact of RNA quality on gene expression results from quantitative PCR.
Nucleic acids research 2011;39(9):e63.
2011: Kim De Leeneer; Anne De Paepe; Joachim De Schrijver; Jan Hellemans; Bruce Poppe; Wim van Criekinge; Machteld Baetens; Paul Coucke; Kathleen Claes
Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.
Human mutation 2011;32(3):335-44.
2011: Kim De Leeneer; Joachim De Schrijver; Bram De Wilde; Dieter Deforce; Machteld Baetens; Sofie Bekaert; Kathleen Claes; Lieven Clement; Paul Coucke; Sarah De Keulenaer; Steve Lefever; Filip Pattyn; Wim van Criekinge; Filip Van Nieuwerburgh; Jo Vandesompele; Jan Hellemans
Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics.
PloS one 2011;6(9):e25531.
2010: Delfien Syx; Fransiska Malfait; Lut Van Laer; Jan Hellemans; Trinh Hermanns-Lê; Andy Willaert; Abdelmajid Benmansour; Anne De Paepe; Alain Verloes
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).
Human genetics 2010;128(1):79-88.
2010: Barbara D'haene; Jan Hellemans; Marguerita Craen; Jean De Schepper; Koen Devriendt; Jean-Pierre Fryns; Kathelijn Keymolen; Eveline Debals; Annelies de Klein; Elisabeth M de Jong; Karin Segers; Anne De Paepe; Geert Mortier; Jo Vandesompele; Elfride De Baere
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.
The Journal of clinical endocrinology and metabolism 2010;95(6):3010-8.
2010: Barbara D'haene; Jo Vandesompele; Jan Hellemans
Accurate and objective copy number profiling using real-time quantitative PCR.
Methods (San Diego, Calif.) 2010;50(4):262-70.
2010: Stefaan Derveaux; Jo Vandesompele; Jan Hellemans
How to do successful gene expression analysis using real-time PCR.
Methods (San Diego, Calif.) 2010;50(4):227-30.
2009: Jan Hellemans; Marleen Simon; Annelies Dheedene; Yasemin Alanay; Ercan Mihci; Laila Rifai; abdelaziz sefiani; Yolande van Bever; Morteza Meradji; andrea superti-furga; Geert R Mortier
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
American journal of human genetics 2009;85(6):916-22.
2009: Annelies Dheedene; Steven Deleye; Jan Hellemans; Steven Staelens; Stefaan Vandenberghe; Geert Mortier
The heterozygous Lemd3 +/GT mouse is not a murine model for osteopoikilosis in humans.
Calcified tissue international 2009;85(6):546-51.
2009: Joëlle Vermeulen; Filip Pattyn; Katleen De Preter; Liesbeth Vercruysse; Stefaan Derveaux; Pieter Mestdagh; Steve Lefever; Jan Hellemans; Frank Speleman; Jo Vandesompele
External oligonucleotide standards enable cross laboratory comparison and exchange of real-time quantitative PCR data.
Nucleic acids research 2009;37(21):e138.
2009: Steve Lefever; Jan Hellemans; Filip Pattyn; Daniel R Przybylski; Chris Taylor; René Geurts; Andreas Untergasser; Jo Vandesompele
RDML: structured language and reporting guidelines for real-time quantitative PCR data.
Nucleic acids research 2009;37(7):2065-9.
2009: Karen Buysse; William Reardon; Lakshmi Mehta; Teresa Costa; Carrie Fagerstrom; Daniel J Kingsbury; George Anadiotis; Barbara C McGillivray; Jan Hellemans; Nicole de Leeuw; Bert B A de Vries; Frank Speleman; Björn Menten; Geert R Mortier
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.
European journal of medical genetics 2009;52(2-3):101-7.
2007: Frauke Coppieters; Bart P Leroy; Diane Beysen; Jan Hellemans; Karolien De Bosscher; Guy Haegeman; Kirsten Robberecht; Wim Wuyts; Paul J Coucke; Elfride De Baere
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.
American journal of human genetics 2007;81(1):147-57.
2007: Björn Menten; Karen Buysse; Farah Zahir; Jan Hellemans; Sara J Hamilton; Teresa Costa; Carrie Fagerstrom; George Anadiotis; Daniel Kingsbury; Barbara C McGillivray; Marco A Marra; Jan M Friedman; Frank Speleman; Geert R Mortier
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
Journal of medical genetics 2007;44(4):264-8.
2007: Jan Hellemans; Geert R Mortier; Anne De Paepe; Frank Speleman; Jo Vandesompele
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data.
Genome biology 2007;8(2):R19.
2006: Jan Hellemans; Philippe Debeer; Michael Wright; Andreas R Janecke; Klaus W Kjaer; Peter C M Verdonk; Ravi Savarirayan; Lina Basel; Celia Moss; Johannes Roth; Albert David; Anne De Paepe; Paul Coucke; Geert R Mortier
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
Human mutation 2006;27(3):290.
2005: Bart Loeys; Junji Chen; Enid R Neptune; Daniel P Judge; Megan Podowski; Tammy M Holm; Jennifer Meyers; Carmen C Leitch; Nicholas Katsanis; Neda A Sharifi; F Lauren Xu; Loretha A Myers; Philip J Spevak; Duke E Cameron; Julie De Backer; Jan Hellemans; Yan Chen; Elaine C Davis; Catherine Webb; Wolfram Kress; Paul Coucke; Daniel B Rifkin; Anne De Paepe; Harry C Dietz
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Nature genetics 2005;37(3):275-81.
2004: Jan Hellemans; Olena Preobrazhenska; Andy Willaert; Philippe Debeer; Peter C M Verdonk; Teresa Costa; Koen Janssens; Björn Menten; Nadine Van Roy; Stefan Vermeulen; Ravi Savarirayan; Wim Van Hul; Filip Vanhoenacker; Danny Huylebroeck; Anne De Paepe; Jean-Marie Naeyaert; Jo Vandesompele; Frank Speleman; Kristin Verschueren; Paul J Coucke; Geert R Mortier
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Nature genetics 2004;36(11):1213-8.
2003: Jan Hellemans; Paul J Coucke; Andres Giedion; Anne De Paepe; Peter Kramer; Frits A Beemer; Geert R Mortier
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
American journal of human genetics 2003;72(4):1040-6.