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2. The Digital MIQE Guidelines Update: Minimum Information for Publication of Quantitative Digital PCR Experiments for 2020

Author

Huggett, J. F., Whale, A. S., Spiegelaere, W. De, Trypsteen, W., Nour, A. A., Bae, Y.-K., Benes, V., Burke, D. G., Corbisier, Philippe, Cleveland, Megan, Devonshire, Alison S, Dong, Lianhua, Drandi, Deniela, Foy, Carole, Garson, J. A., Hellemans, J., He, H.-J., Kubista, M., Lievens, A., Makrigiorgos, M., Milavec, M., Mueller, R. D., Nolan, T., O'Sullivan, D., Pfaffl, M. W., Roediger, S., Romsos, E., Shipley, G., Taly, V., Untergasser, A., Wittwer, C., Bustin, S., Vandesompele., And J., University of Surrey (UNIS), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), dMIQE Group: Alexandra S Whale, Ward De Spiegelaere, Wim Trypsteen, Afif Abdel Nour, Young-Kyung Bae, Vladimir Benes, Daniel Burke, Megan Cleveland, Philippe Corbisier, Alison S Devonshire, Lianhua Dong, Daniela Drandi, Carole A Foy, Jeremy A Garson, Hua-Jun He, Jan Hellemans, Mikael Kubista, Antoon Lievens, Mike G Makrigiorgos, Mojca Milavec, Reinhold D Mueller, Tania Nolan, Denise M O'Sullivan, Michael W Pfaffl, Stefan Rödiger, Erica L Romsos, Gregory L Shipley, Valerie Taly, Andreas Untergasser, Carl T Wittwer, Stephen A Bustin, Jo Vandesompele, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), and TALY, Valerie

Subjects
0301 basic medicine, POLYMERASE-CHAIN-REACTION, Computer science, Process (engineering), [SDV]Life Sciences [q-bio], EGFR, Absolute quantification, ABSOLUTE QUANTIFICATION, Clinical Biochemistry, VOLUME VARIABILITY, Guidelines as Topic, Polymerase Chain Reaction, MIQE, 03 medical and health sciences, dMIQE, dPCR, digital PCR, Humans, Nucleic Acids, Publications, 0302 clinical medicine, Software, Digital polymerase chain reaction, Instrumentation (computer programming), PLASMA, business.industry, DROPLET, Biochemistry (medical), Biology and Life Sciences, AMPLIFICATION, DNA COPY NUMBER, Data science, ddc, QPCR, [SDV] Life Sciences [q-bio], 030104 developmental biology, 030220 oncology & carcinogenesis, Key (cryptography), Table (database), business, RESISTANCE
Abstract

Digital PCR (dPCR) has developed considerably since the publication of the Minimum Information for Publication of Digital PCR Experiments (dMIQE) guidelines in 2013, with advances in instrumentation, software, applications, and our understanding of its technological potential. Yet these developments also have associated challenges; data analysis steps, including threshold setting, can be difficult and preanalytical steps required to purify, concentrate, and modify nucleic acids can lead to measurement error. To assist independent corroboration of conclusions, comprehensive disclosure of all relevant experimental details is required. To support the community and reflect the growing use of dPCR, we present an update to dMIQE, dMIQE2020, including a simplified dMIQE table format to assist researchers in providing key experimental information and understanding of the associated experimental process. Adoption of dMIQE2020 by the scientific community will assist in standardizing experimental protocols, maximize efficient utilization of resources, and further enhance the impact of this powerful technology.

Published
2020
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6. Locus of control, latent inhibition and reaction times in a semantic (left-hemisphere) and visuospatial (right-hemisphere) stimulus discrimination task

Author

Branbander, B. de and Hellemans, J.

Subjects
Inhibition -- Research, Reaction time -- Testing, Motor ability -- Testing, Dopaminergic mechanisms -- Physiological aspects, Conditioned response -- Research, Cerebral dominance -- Research, Learning, Psychology of -- Research, Health, Psychology and mental health
Abstract

Rank correlations on latent inhibition learning among internal scorers versus external scorers on Rotter's I-E locus of control scale were compared between trial numbers and speed of correct reactions in a left- and in a right-hemispheric discrimination task. On the basis of previous research and theorizing reviewed by De Brabander, Boone, and Gerits (1992) we expected latent inhibition effects to show mainly on the left-hemisphere task and more clearly among internal scorers on Rotter's I-E locus of control scale. The findings seem to confirm our expectations.

Published
1997

7. Locus of control, sensation seeking, and stress

Author

Brabander, B. De, Hellemans, J., Boone, C., and Gerits, P.

Subjects
Control (Psychology) -- Research, Senses and sensation -- Psychological aspects, Stress (Psychology) -- Research, Psychology and mental health
Abstract

We explored the relations among locus of control, sensation seeking, and stress (N=68 students). Corroborating evidence was found that subjects with an external locus of control are more vulnerable to stress. Subjects scoring higher on the thrill and adventure seeking-dimension of sensation seeking reported less severe physical and psychological complaints thought to be associated with stress. These results suggest that high sensation seeking is associated with protective mechanisms against life-stress. Some possible intervening mechanisms are further discussed.

Published
1996

9. Catalyzing transcriptomics research in cardiovascular disease:the CardioRNA COST Action CA17129

Author

Gomes, C. P. (Clarissa Pedrosa da Costa), Agg, B. (Bence), Andova, A. (Andrejaana), Arslan, S. (Serdal), Baker, A. (Andrew), Bartekova, M. (Monika), Beis, D. (Dimitris), Betsou, F. (Fay), Wettinger, S. B. (Stephanie Bezzina), Bugarski, B. (Branko), Condorelli, G. (Gianluigi), da Silva, G. J. (Gustavo Jose Justo), Danilin, S. (Sabrina), de Gonzalo-Calvo, D. (David), Buil, A. (Alfonso), Carmo-Fonseca, M. (Maria), Enguita, F. J. (Francisco J.), Felekkis, K. (Kyriacos), Ferdinandy, P. (Peter), Gyoengyoesi, M. (Mariann), Hackl, M. (Matthias), Karaduzovic-Hadziabdic, K. (Kanita), Hellemans, J. (Jan), Heymans, S. (Stephane), Hlavackova, M. (Marketa), Hoydal, M. A. (Morten Andre), Jankovic, A. (Aleksandra), Jusic, A. (Amela), Kardassis, D. (Dimitris), Kerkela, R. (Risto), Kuster, G. M. (Gabriela M.), Lakkisto, P. (Paivi), Leszek, P. (Przemyslaw), Lustrek, M. (Mitja), Maegdefessel, L. (Lars), Martelli, F. (Fabio), Novella, S. (Susana), O'Brien, T. (Timothy), Papaneophytou, C. (Christos), Pedrazzini, T. (Thierry), Pinet, F. (Florence), Popescu, O. (Octavian), Potocnjak, I. (Ines), Robinson, E. (Emma), Sasson, S. (Shlomo), Scholz, M. (Markus), Simionescu, M. (Maya), Stoll, M. (Monika), Varga, Z. V. (Zoltan V.), Vinciguerra, M. (Manlio), Xuereb, A. (Angela), Yilmaz, M. B. (Mehmet Birhan), Emanueli, C. (Costanza), Devaux, Y. (Yvan), Gomes, C. P. (Clarissa Pedrosa da Costa), Agg, B. (Bence), Andova, A. (Andrejaana), Arslan, S. (Serdal), Baker, A. (Andrew), Bartekova, M. (Monika), Beis, D. (Dimitris), Betsou, F. (Fay), Wettinger, S. B. (Stephanie Bezzina), Bugarski, B. (Branko), Condorelli, G. (Gianluigi), da Silva, G. J. (Gustavo Jose Justo), Danilin, S. (Sabrina), de Gonzalo-Calvo, D. (David), Buil, A. (Alfonso), Carmo-Fonseca, M. (Maria), Enguita, F. J. (Francisco J.), Felekkis, K. (Kyriacos), Ferdinandy, P. (Peter), Gyoengyoesi, M. (Mariann), Hackl, M. (Matthias), Karaduzovic-Hadziabdic, K. (Kanita), Hellemans, J. (Jan), Heymans, S. (Stephane), Hlavackova, M. (Marketa), Hoydal, M. A. (Morten Andre), Jankovic, A. (Aleksandra), Jusic, A. (Amela), Kardassis, D. (Dimitris), Kerkela, R. (Risto), Kuster, G. M. (Gabriela M.), Lakkisto, P. (Paivi), Leszek, P. (Przemyslaw), Lustrek, M. (Mitja), Maegdefessel, L. (Lars), Martelli, F. (Fabio), Novella, S. (Susana), O'Brien, T. (Timothy), Papaneophytou, C. (Christos), Pedrazzini, T. (Thierry), Pinet, F. (Florence), Popescu, O. (Octavian), Potocnjak, I. (Ines), Robinson, E. (Emma), Sasson, S. (Shlomo), Scholz, M. (Markus), Simionescu, M. (Maya), Stoll, M. (Monika), Varga, Z. V. (Zoltan V.), Vinciguerra, M. (Manlio), Xuereb, A. (Angela), Yilmaz, M. B. (Mehmet Birhan), Emanueli, C. (Costanza), and Devaux, Y. (Yvan)

Abstract

Cardiovascular disease (CVD) remains the leading cause of death worldwide and, despite continuous advances, better diagnostic and prognostic tools, as well as therapy, are needed. The human transcriptome, which is the set of all RNA produced in a cell, is much more complex than previously thought and the lack of dialogue between researchers and industrials and consensus on guidelines to generate data make it harder to compare and reproduce results. This European Cooperation in Science and Technology (COST) Action aims to accelerate the understanding of transcriptomics in CVD and further the translation of experimental data into usable applications to improve personalized medicine in this field by creating an interdisciplinary network. It aims to provide opportunities for collaboration between stakeholders from complementary backgrounds, allowing the functions of different RNAs and their interactions to be more rapidly deciphered in the cardiovascular context for translation into the clinic, thus fostering personalized medicine and meeting a current public health challenge. Thus, this Action will advance studies on cardiovascular transcriptomics, generate innovative projects, and consolidate the leadership of European research groups in the field. COST (European Cooperation in Science and Technology) is a funding organization for research and innovation networks (www.cost.eu).

Published
2019

10. Corroborative evidence for difference in arousability between internal and external scorers on Rotter's I-E locus of control scale

Author

Brabander, B. de and Hellemans, J.

Subjects
Arousal (Physiology) -- Testing, Control (Psychology) -- Testing, Health, Psychology and mental health
Abstract

Here we report data about the answers on the Hopkins Symptom Check List for 68 students who participated in an experiment. About random half of the subjects were submitted to sham physiological measurements, the others not. Scores on Rotter's I-E Locus of Control Scale were also available. Analysis indicated that sham physiological measurement treatment is associated with more health complaints and more among external scorers on the Locus of Control Scale. These findings are interpreted as the result of increased arousal by the treatment and higher arousability among external scorers.

Published
1997

20. Presbyesophagus

Author

Hellemans, J., Vantrappen, G., Schwiegk, H., editor, Vantrappen, Gaston R., and Hellemans, Jan J.

Published
1974
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23. Achalasia

Author

Vantrappen, G., Hellemans, J., Schwiegk, H., editor, Vantrappen, Gaston R., and Hellemans, Jan J.

Published
1974
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28. Benchmarking of RNA-sequencing analysis workflows using whole-transcriptome RT-qPCR expression data

Author

Everaert, C, Luypaert, M, Maag, JLV, Cheng, QX, DInger, ME, Hellemans, J, Mestdagh, P, Everaert, C, Luypaert, M, Maag, JLV, Cheng, QX, DInger, ME, Hellemans, J, and Mestdagh, P

Abstract

© 2017 The Author(s). RNA-sequencing has become the gold standard for whole-transcriptome gene expression quantification. Multiple algorithms have been developed to derive gene counts from sequencing reads. While a number of benchmarking studies have been conducted, the question remains how individual methods perform at accurately quantifying gene expression levels from RNA-sequencing reads. We performed an independent benchmarking study using RNA-sequencing data from the well established MAQCA and MAQCB reference samples. RNA-sequencing reads were processed using five workflows (Tophat-HTSeq, Tophat-Cufflinks, STAR-HTSeq, Kallisto and Salmon) and resulting gene expression measurements were compared to expression data generated by wet-lab validated qPCR assays for all protein coding genes. All methods showed high gene expression correlations with qPCR data. When comparing gene expression fold changes between MAQCA and MAQCB samples, about 85% of the genes showed consistent results between RNA-sequencing and qPCR data. Of note, each method revealed a small but specific gene set with inconsistent expression measurements. A significant proportion of these method-specific inconsistent genes were reproducibly identified in independ ent datasets. These genes were typically smaller, had fewer exons, and were lower expressed compared to genes with consistent expression measurements. We propose that careful validation is warranted when evaluating RNA-seq based expression profiles for this specific gene set.

Published
2017

39. Het WISE project

Author

Scheepens, R.J., Kortland, J., Hellemans, J., Vloemans, M., Kortland, J., Hellemans, J., and Vloemans, M.

Subjects
Het vakspecifiek functioneren van docenten
Abstract

Item does not contain fulltext Woudschotenconferentie voor natuurkunde didactiek 2000 5 p.

Published
2001

40. Antihypertensive Therapy in Patients Above Age 60: A report of the European Working Party on High Blood Pressure in the Elderly (EWPHE)

Author

Amery, A., primary, Birkenhäger, W., additional, Bogaert, M., additional, Brixko, P., additional, Bulpitt, C., additional, Clement, D., additional, de Leeuw, P., additional, De Plaen, J. F., additional, Deruyttere, M., additional, De Schaepdryver, A., additional, Fagard, R., additional, Forette, F., additional, Forte, J., additional, Hamdy, R., additional, Hellemans, J., additional, Henry, J. F., additional, Koistinen, A., additional, Leonetti, G., additional, Lewis, P., additional, Lund-Johansen, P., additional, MacFarlane, J. P. R., additional, Meurer, K., additional, Miguel, P., additional, Morris, J., additional, Mutsers, A., additional, Nissinen, A., additional, O’Brien, E., additional, O’Malley, K., additional, Omvik, P., additional, Petrie, J. C., additional, Terzoli, L., additional, Tuomilehto, J., additional, Williams, B., additional, and Willemse, P., additional

Published
1984
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42. A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium

Author

Su, Z, Labaj, PP, Li, S, Thierry-Mieg, J, Thierry-Mieg, D, Shi, W, Wang, C, Schroth, GP, Setterquist, RA, Thompson, JF, Jones, WD, Xiao, W, Xu, W, Jensen, RV, Kelly, R, Xu, J, Conesa, A, Furlanello, C, Gao, H, Hong, H, Jafari, N, Letovsky, S, Liao, Y, Lu, F, Oakeley, EJ, Peng, Z, Praul, CA, Santoyo-Lopez, J, Scherer, A, Shi, T, Smyth, GK, Staedtler, F, Sykacek, P, Tan, X-X, Thompson, EA, Vandesompele, J, Wang, MD, Wang, J, Wolfinger, RD, Zavadil, J, Auerbach, SS, Bao, W, Binder, H, Blomquist, T, Brilliant, MH, Bushel, PR, Cain, W, Catalano, JG, Chang, C-W, Chen, T, Chen, G, Chen, R, Chierici, M, Chu, T-M, Clevert, D-A, Deng, Y, Derti, A, Devanarayan, V, Dong, Z, Dopazo, J, Du, T, Fang, H, Fang, Y, Fasold, M, Fernandez, A, Fischer, M, Furio-Tari, P, Fuscoe, JC, Caiment, F, Gaj, S, Gandara, J, Ge, W, Gondo, Y, Gong, B, Gong, M, Gong, Z, Green, B, Guo, C, Guo, L, Guo, L-W, Hadfield, J, Hellemans, J, Hochreiter, S, Jia, M, Jian, M, Johnson, CD, Kay, S, Kleinjans, J, Lababidi, S, Levy, S, Li, Q-Z, Li, L, Li, P, Li, Y, Li, H, Li, J, Lin, SM, Lopez, FJ, Lu, X, Luo, H, Ma, X, Meehan, J, Megherbi, DB, Mei, N, Mu, B, Ning, B, Pandey, A, Perez-Florido, J, Perkins, RG, Peters, R, Phan, JH, Pirooznia, M, Qian, F, Qing, T, Rainbow, L, Rocca-Serra, P, Sambourg, L, Sansone, S-A, Schwartz, S, Shah, R, Shen, J, Smith, TM, Stegle, O, Stralis-Pavese, N, Stupka, E, Suzuki, Y, Szkotnicki, LT, Tinning, M, Tu, B, van Deft, J, Vela-Boza, A, Venturini, E, Walker, SJ, Wan, L, Wang, W, Wieben, ED, Willey, JC, Wu, P-Y, Xuan, J, Yang, Y, Ye, Z, Yin, Y, Yu, Y, Yuan, Y-C, Zhang, J, Zhang, KK, Zhang, W, Zhang, Y, Zhao, C, Zheng, Y, Zhou, Y, Zumbo, P, Tong, W, Kreil, DP, Mason, CE, Shi, L, Su, Z, Labaj, PP, Li, S, Thierry-Mieg, J, Thierry-Mieg, D, Shi, W, Wang, C, Schroth, GP, Setterquist, RA, Thompson, JF, Jones, WD, Xiao, W, Xu, W, Jensen, RV, Kelly, R, Xu, J, Conesa, A, Furlanello, C, Gao, H, Hong, H, Jafari, N, Letovsky, S, Liao, Y, Lu, F, Oakeley, EJ, Peng, Z, Praul, CA, Santoyo-Lopez, J, Scherer, A, Shi, T, Smyth, GK, Staedtler, F, Sykacek, P, Tan, X-X, Thompson, EA, Vandesompele, J, Wang, MD, Wang, J, Wolfinger, RD, Zavadil, J, Auerbach, SS, Bao, W, Binder, H, Blomquist, T, Brilliant, MH, Bushel, PR, Cain, W, Catalano, JG, Chang, C-W, Chen, T, Chen, G, Chen, R, Chierici, M, Chu, T-M, Clevert, D-A, Deng, Y, Derti, A, Devanarayan, V, Dong, Z, Dopazo, J, Du, T, Fang, H, Fang, Y, Fasold, M, Fernandez, A, Fischer, M, Furio-Tari, P, Fuscoe, JC, Caiment, F, Gaj, S, Gandara, J, Ge, W, Gondo, Y, Gong, B, Gong, M, Gong, Z, Green, B, Guo, C, Guo, L, Guo, L-W, Hadfield, J, Hellemans, J, Hochreiter, S, Jia, M, Jian, M, Johnson, CD, Kay, S, Kleinjans, J, Lababidi, S, Levy, S, Li, Q-Z, Li, L, Li, P, Li, Y, Li, H, Li, J, Lin, SM, Lopez, FJ, Lu, X, Luo, H, Ma, X, Meehan, J, Megherbi, DB, Mei, N, Mu, B, Ning, B, Pandey, A, Perez-Florido, J, Perkins, RG, Peters, R, Phan, JH, Pirooznia, M, Qian, F, Qing, T, Rainbow, L, Rocca-Serra, P, Sambourg, L, Sansone, S-A, Schwartz, S, Shah, R, Shen, J, Smith, TM, Stegle, O, Stralis-Pavese, N, Stupka, E, Suzuki, Y, Szkotnicki, LT, Tinning, M, Tu, B, van Deft, J, Vela-Boza, A, Venturini, E, Walker, SJ, Wan, L, Wang, W, Wieben, ED, Willey, JC, Wu, P-Y, Xuan, J, Yang, Y, Ye, Z, Yin, Y, Yu, Y, Yuan, Y-C, Zhang, J, Zhang, KK, Zhang, W, Zhang, Y, Zhao, C, Zheng, Y, Zhou, Y, Zumbo, P, Tong, W, Kreil, DP, Mason, CE, and Shi, L

Abstract

We present primary results from the Sequencing Quality Control (SEQC) project, coordinated by the US Food and Drug Administration. Examining Illumina HiSeq, Life Technologies SOLiD and Roche 454 platforms at multiple laboratory sites using reference RNA samples with built-in controls, we assess RNA sequencing (RNA-seq) performance for junction discovery and differential expression profiling and compare it to microarray and quantitative PCR (qPCR) data using complementary metrics. At all sequencing depths, we discover unannotated exon-exon junctions, with >80% validated by qPCR. We find that measurements of relative expression are accurate and reproducible across sites and platforms if specific filters are used. In contrast, RNA-seq and microarrays do not provide accurate absolute measurements, and gene-specific biases are observed for all examined platforms, including qPCR. Measurement performance depends on the platform and data analysis pipeline, and variation is large for transcript-level profiling. The complete SEQC data sets, comprising >100 billion reads (10Tb), provide unique resources for evaluating RNA-seq analyses for clinical and regulatory settings.

Published
2014

44. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone- shaped epiphyses in hands and hips

Author

Hellemans, J, Coucke, PJ, Giedion, A, De Paepe, A, Kramer, P, Beemer, F, Mortier, GR, and University of Groningen

Subjects
DIFFERENTIATION, INDIAN HEDGEHOG, SONIC HEDGEHOG, PROTEIN, GROWTH, CHILDREN, BRACHYDACTYLY TYPE-B, GENE, ROBINOW-SYNDROME, ROR2
Abstract

Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips. Genome-wide homozygosity mapping in two consanguineous families linked the locus to 2q35-q36 with a maximum two-point LOD score of 8.02 at marker D2S2248. Two recombination events defined the minimal critical region between markers D2S2248 and D2S2151 (3.74 cM). Using a candidate-gene approach, we identified two missense mutations in the amino-terminal signaling domain of the gene encoding Indian hedgehog (IHH). Both affected individuals of family 1 are homozygous for a 137C-->T transition (P46L), and the three patients in family 2 are homozygous for a 569T-->C transition (V190A). The two mutant amino acids are strongly conserved and predicted to be located outside the region where brachydactyly type A-1 mutations are clustered.

Published
2003

47. Improved molecular diagnostics of idiopathic short stature and allied disorders: Quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1

Author

D'Haene, B. (Barbara), Hellemans, J. (Jan), Craen, M. (Margarita), Schepper, J. de, Devriendt, K. (Koenraad), Fryns, J.P., Keymolen, K. (Kathelijn), Debals, E. (Eveline), Klein, J.E.M.M. (Annelies) de, Jong, E.M. (Elisabeth) de, Segers, K. (Karin), Paepe, A. (Anne) de, Mortier, G. (Geert), Vandesompele, J. (Jo), De Baere, E. (Elfride), D'Haene, B. (Barbara), Hellemans, J. (Jan), Craen, M. (Margarita), Schepper, J. de, Devriendt, K. (Koenraad), Fryns, J.P., Keymolen, K. (Kathelijn), Debals, E. (Eveline), Klein, J.E.M.M. (Annelies) de, Jong, E.M. (Elisabeth) de, Segers, K. (Karin), Paepe, A. (Anne) de, Mortier, G. (Geert), Vandesompele, J. (Jo), and De Baere, E. (Elfride)

Abstract

Context: Short stature has an incidence of three in 100 in children. Reliable molecular genetic testing may be crucial in the context of beneficial disease management. Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, such as Leri-Weill dyschondrosteosis. Objective: Several shortcomings of current strategies for copy number profiling of the SHOX region prompted us to develop an improved test for molecular diagnostics of the SHOX region. Design and Results:Weintroduced a quantitative PCR (qPCR)-based copy number profiling test, consisting of 11 amplicons targeting clinically relevant regions, i.e. the SHOX gene and regulatory regions. To ensure an optimal sensitivity and specificity, this test was validated in 32 controls and 18 probands with previously identified copy number changes. In addition, 152 probands with SHOX-associated phenotypes were screened, revealing 10 novel copy number changes. Conclusion: This highly validated qPCR test supersedes other approaches for copy number screening of the SHOX region in terms of reliability, accuracy, and cost efficiency. In addition, another strong point is the fact that it can be easily implemented in any standard equipped molecular laboratory. Our qPCR-based test is highly recommended for molecular diagnostics of idiopathic short stature and allied disorders. Copyright

Published
2010
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49. The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.

Author

Buysse, K., Reardon, W., Mehta, L., Costa, T., Fagerstrom, C., Kingsbury, D.J., Anadiotis, G., McGillivray, B.C., Hellemans, J., Leeuw, N. de, Vries, L.B.A. de, Speleman, F., Menten, B., Mortier, G., Buysse, K., Reardon, W., Mehta, L., Costa, T., Fagerstrom, C., Kingsbury, D.J., Anadiotis, G., McGillivray, B.C., Hellemans, J., Leeuw, N. de, Vries, L.B.A. de, Speleman, F., Menten, B., and Mortier, G.

Abstract

Item does not contain fulltext, Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This report on two additional patients with this microdeletion syndrome emphasizes the rather constant and uniform phenotype encountered in this disorder and refines the critical region to a 2.61 Mb interval on 12q14.3, encompassing 10 RefSeq genes. We have previously shown that LEMD3 haploinsufficiency is responsible for the Buschke-Ollendorff lesions and now provide strong evidence that a heterozygous deletion of HMGA2 is causing the growth failure observed in this disorder. The identification of an intragenic HMGA2 deletion in a boy with proportionate short stature and the cosegregation of this deletion with reduced adult height in the extended family of the boy further underscore the role of HMGA2 in regulating human linear growth.

Published
2009

50. RDML: structured language and reporting guidelines for real-time quantitative PCR data

Author

Lefever, S., Hellemans, J., Pattyn, F., Przybylski, D.R., Taylor, C., Geurts, R., Untergasser, A., Vandesompele, J., Lefever, S., Hellemans, J., Pattyn, F., Przybylski, D.R., Taylor, C., Geurts, R., Untergasser, A., and Vandesompele, J.

Abstract

The XML-based Real-Time PCR Data Markup Language (RDML) has been developed by the RDML consortium (http://www.rdml.org) to enable straightforward exchange of qPCR data and related information between qPCR instruments and third party data analysis software, between colleagues and collaborators and between experimenters and journals or public repositories. We here also propose data related guidelines as a subset of the Minimum Information for Publication of Quantitative Real-Time PCR Experiments (MIQE) to guarantee inclusion of key data information when reporting experimental results

Published
2009

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