Karen Sermon Reproduction and Genetics, Vrije Universiteit Brussel
1 protocol

Ben Caljon Center for Medical Genetics, UZ Brussel, Jette,
1 protocol

Dorien Daneels Center for Medical Genetics, UZ Brussel, Jette,
1 protocol

Filippo Zambelli 1 protocol

Claudia Spits
  • Tenure-track professor, Research Group Reproduction and Genetics, Vrije Universiteit Brussel
Research focus
  • Stem cell
  • 1 Author merit

Education

PhD, Vrije Universiteit Brussel, 2006

Publications

· Gain of 20q11.21 in human pluripotent stem cells impairs TGFβ-dependent neuroectodermal differentiation. Markouli C., Couvreu De Deckersberg E., Regin M., Nguyen HT., Zambelli F.1, Keller A., Dziedzicka D., De Kock J., Tilleman L., Van Nieuwerburgh F., Franceschini K., Sermon K., Geens M., Spits C. Accepted in Stem Cell Reports. 5-year impact factor: 7.508. Category and rank: Cell & tissue engineering 3/21, Q1 or cell biology 31/190, Q1.

· Human pluripotent stem cells in regenerative medicine: where do we stand? Nguyen HT, Jacobs K, Spits C. Reproduction. 2018, 156R143-R153. Impact factor 2017: 3.086. Category and rank: developmental biology, rank 13/42, Q2 or reproductive biology, rank 7/29, Q1.

· Expression of adhesion and extracellular matrix genes in human blastocysts upon attachment in a 2D co-culture system. Aberkane A, Essahib W, Spits C, De Paepe C, Sermon K, Adriaenssens T, Mackens S, Tournaye H, Brosens JJ, Van de VH. Mol Hum Reprod. 2018, 24:375-387. 5-year impact factor: 3.517. Category and rank: developmental biology, rank 8/41, Q1, obstetrics & gynecology, rank 10/80, Q1 or reproductive biology, rank 4/29, Q1.

· Random mutagenesis, clonal events and embryonic or somatic origin determine the mitochondrial DNA variant type and load in human pluripotent stem cells. Zambelli F, Mertens J, Dziedzicka D, Sterckx J, Markouli C, Keller A, Tropel P, Jung L, Viville S, Van de Velde H, Geens M, Seneca S, Sermon K, Spits C. Stem Cell Reports. 2018, 11:102-114. 5-year impact factor: 7.508. Category and rank: Cell & tissue engineering 3/21, Q1 or cell biology 31/190, Q1.

· Recent developments in genetics and medically-assisted reproduction: from research to clinical applications. Harper, J.C., Aittomäki, K., Borry, P., Cornel, M.C., De Wert, G., Dondorp, W., Geraedts, J., Gianaroli, L., Ketterson, K., Liebaers, I., Lundin, K., Mertes, H., Morris, M., Pennings, G., Sermon, K., Spits, C., Soini, S, Van Montfoort, A.P.A., Veiga, A., Vermeesch, J.R., Viville, S., Macek Jr. M. on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics*. Human Reproduction Open, Volume 2017, Issue 3, 5 October 2017, hox015, https://doi.org/10.1093/hropen/hox015

· (Epi)Genetic Factors which modulate differentiation propensity in human pluripotent stem cells. Keller A, Dziedzicka D, Zambelli F, Markouli C, Sermon K, Spits C*, Geens M*. * joint last authors. Human Reproduction Update, Epub ahead of print. 5-year impact factor: 11.285, Q1.

· Recent developments in genetics and medically-assisted reproduction: from research to clinical applications. Harper, J.C., Aittomäki, K., Borry, P., Cornel, M.C., De Wert, G., Dondorp, W., Geraedts, J., Gianaroli, L., Ketterson, K., Liebaers, I., Lundin, K., Mertes, H., Morris, M., Pennings, G., Sermon, K., Spits, C., Soini, S, Van Montfoort, A.P.A., Veiga, A., Vermeesch, J.R., Viville, S., Macek Jr. M. on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics*. European Journal of Human Genetics. 2017 Dec 4. doi: 10.1038/s41431-017-0016-z.

· A step forward in disease modelling for mitochondrial diseases. Zambelli F and Spits C. Editorial, Stem Cell Investigation. Online publication, 2017,4. doi: 10.21037/sci.2017.10.06. Pubmed indexed, no impact factor yet.

· Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells. Zambelli F, Vancampenhout K, Daneels D, Brown D, Mertens J, Van Dooren S, Caljon B, Gianaroli L, Sermon K, Voet T, Seneca S, Spits C. Eur J Hum Genet. 2017, 25:1229-1236. 5-year impact factor: 3.977, Q1.

· Mitotic spindle disruption in human preimplantation embryos activates the spindle assembly checkpoint but not apoptosis until day 5 of development. Jacobs K, Van de Velde H, De Paepe C, Sermon K, Spits C. Molecular Human Reproduction. 2017, 23:321-329. Impact factor 2016: 3.585. Category and rank: developmental biology, rank 8/41, Q1, obstetrics & gynecology, rank 8/79, Q1 or reproductive biology, rank 4/30, Q1.

· Detecting mosaicism in trophectoderm biopsies.Sermon KD, Spits C, Mertzanidou A, Vermeesch JR, Fiorentino F. Human Reproduction. 2017,32:712-713. 5-year Impact factor: 4.619. Category and rank: obstetrics & gynecology, rank 3/78, Q1 or reproductive biology, rank 2/28, Q1.

· CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Matthieu J, Sermon K, Pearson C. American Journal of Human Genetics. 2017, 100: 488-505; Featured in the News & Views, AJHG 100:373-374. 5-year impact factor: 11.184. Category and rank: genetics and heredity 8/166, Q1.

· The role of methylation, DNA polymorphisms and microRNAs on HLA-G expression in human embryonic stem cells. Verloes A*, Spits C*, Vercammen M, Geens M, LeMaoultd J, Sermon K, Couckee W, Van de Velde H. * joint first authors. Stem Cell Research, 2017, 19:118-127. 5-year impact factor: 4.018. Category and rank: Biotechnology and applied microbiology 30/161, Q1.

· A High Proliferation Rate is Critical for Reproducible and Standardized Embryoid Body Formation from Laminin-521-Based Human Pluripotent Stem Cell Cultures. Dziedzicka D, Markouli C, Barbé L, Spits C, Sermon K, Geens M. Stem Cell Rev and Rep. 2016, 12:721-730. Impact factor 2016: 2.967. Category and rank: Medicine, Research and Experimental 44/128, Q2, Cell biology 106/190, Q3, Cell & tissue engineering 14/21, Q3.

· Higher density culture in human embryonic stem cells results in DNA damage and genome instability. Jacobs K, Zambelli F, Mertzanidou A, Smolders I, Geens M, Nguyen HT, Barbé L, Sermon K, Spits C. Stem Cell Reports. 2016, 6:330-41. Impact factor 2016: 7.338. Category and rank: Cell & tissue engineering 3/21, Q1 or cell biology 31/190, Q1.

· Female human pluripotent stem cells rapidly lose X chromosome inactivation marks and progress to a skewed methylation pattern during culture. Geens M*, Seriola A*, Barbe L, Santalo J, Veiga A, Dee K, Van Haute L, Sermon K, Spits C. * Joint first authorship. Molecular Human Reproduction. 2016, 22:285-98. Impact factor 2016: 3.585. Category and rank: developmental biology, rank 8/41, Q1, obstetrics & gynecology, rank 8/79, Q1 or reproductive biology, rank 4/30, Q1.

· Chromosome constitution of human embryos generated after in vitro maturation including 3-isobutyl-1-methylxanthine in the oocyte collection medium. Spits C*, Guzman L*, Mertzanidou A*, Jacobs K, Ortega-Hrepich C, Gilchrist RB, Thompson JG, De Vos M, Smitz J, Sermon K. * Joint first authorship. Human Reproduction. 2015, 30:653-63. Impact factor 2015: 4.124. Category and rank: obstetrics & gynecology, rank 4/80, Q1 or reproductive biology, rank 2/29, Q1.

· A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome. Vancampenhout K, Caljon B, Spits C, Stouffs K, Jonckheere A, De Meirleir L, Lissens W, Vanlander A, Smet J, De Paepe B, Van Coster R, Seneca S. PLoS One. 2014, 9:e112950. Impact factor 2014: 3.234. Category and rank: multidisciplinary sciences, rank: 9/57, Q1.

· Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology. Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr. Human Reproduction. 2014, 29:1603-9. Impact factor 2014: 4.569. Category and rank: obstetrics & gynecology, rank 5/79, Q1 or reproductive biology, rank 3/30, Q1.

· Human embryonic stem cells show low-grade microsatellite instability. Nguyen HT, Markouli C, Geens M, Barbé L, Sermon K, Spits C. Molecular Human Reproduction. 2014, 20:981-9. Impact factor 2014: 3.474. Category and rank: developmental biology, rank 7/41, Q1 or reproductive biology, rank 3/28, Q1.

· Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations. Jacobs K, Mertzanidou A, Geens M, Nguyen HT, Staessen C, Spits C. Nature Communications. 2014, 5:4227. Impact factor 2014: 11.470. Category and rank: multidisciplinary sciences, rank: 3/57, Q1.

· Gain of 20q11.21 in human embryonic stem cells improves cell-survival by increased expression of Bcl-xL. Nguyen HT, Geens M, Mertzanidou A, Jacobs K, Heirman C, Breckpot K, Spits C. Molecular Human Reproduction. 2014, 20:168-77. Impact factor 2014: 3.474. Category and rank: developmental biology, rank 7/41, Q1 or reproductive biology, rank 3/28, Q1.

· Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology. Harper JC, Geraedts J, Borry P, Cornel MC, Dondorp W, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr. European Journal of Human Genetics 2013, Suppl 2:S1-S21. Impact factor 2013: 4.225. Category and rank: biochemistry & molecular biology, rank 71/290, Q1 or genetics & heredity, rank 34/161, Q1.

· Genetic and epigenetic instability in human pluripotent stem cells. Nguyen H.T., Geens M, Spits C. Human Reproduction Update. 2013, 19:187-205. Impact factor 2013: 8.657. Category and rank: obstetrics & gynecology, rank 1/78, Q1 or reproductive biology, rank 1/28, Q1.

· Evolution of aneuploidy up to day 4 of human preimplantation development. Mertzanidou A*, Spits C*, Nguyen H.T., Van de Velde H, Sermon K. Human Reproduction. 2013, 28:1716-24. * Joint first authorship. Impact factor 2013: 4.585. Category and rank: obstetrics & gynecology, rank 3/78, Q1 or reproductive biology, rank 2/28, Q1.

· Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos. Mertzanidou A*, Wilton L*, Cheng J*, Spits C, Vanneste E, Moreau Y, Vermeesch JR, Sermon K. Human Reproduction. 2013, 28:256-64. * Joint first authorship. Impact factor 2013: 4.585. Category and rank: obstetrics & gynecology, rank 3/78, Q1 or reproductive biology, rank 2/28, Q1.

· Human embryonic stem cells commonly display large mitochondrial DNA deletions. Van Haute L.*, Spits C.*, Geens M., Seneca S., Sermon K. Nature Biotechnology. 2013, 31:20-3. * Joint first authorship. Impact factor 2013: 39.080. Category and rank: biotechnology & applied microbiology, rank 2/160, Q1.

· Stem cell therapy: facts and fiction. Spits C. Facts, Views & Vision in OBGYN. 2012, 4 (3): 195-197. No Impact factor, but indexed on PubMed.

· Huntington’s and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. Seriola A*, Spits C*, Simard J.P., Hilven P., Haentjens P., Pearson C.E., Sermon K. Human Molecular Genetics. 2011, 20:176-85. * Joint first authorship. Impact factor 2011: 7.636. Category and rank: biochemistry & molecular biology, rank 28/290, Q1 or genetics & heredity, rank 13/161, Q1.

· Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage. The International Stem Cell Initiative. Amps K, Andrews PW, Anyfantis G, Armstrong L, Avery S, Baharvand H, Baker J, Baker D, Munoz MB, Beil S, Benvenisty N, Ben-Yosef D, Biancotti JC, Bosman A, Brena RM, Brison D, Caisander G, Camarasa MV, Chen J, Chiao E, Choi YM, Choo AB, Collins D, Colman A, Crook JM, Daley GQ, Dalton A, De Sousa PA, Denning C, Downie J, Dvorak P, Montgomery KD, Feki A, Ford A, Fox V, Fraga AM, Frumkin T, Ge L, Gokhale PJ, Golan-Lev T, Gourabi H, Gropp M, Guangxiu L, Hampl A, Harron K, Healy L, Herath W, Holm F, Hovatta O, Hyllner J, Inamdar MS, Irwanto AK, Ishii T, Jaconi M, Jin Y, Kimber S, Kiselev S, Knowles BB, Kopper O, Kukharenko V, Kuliev A, Lagarkova MA, Laird PW, Lako M, Laslett AL, Lavon N, Lee DR, Lee JE, Li C, Lim LS, Ludwig TE, Ma Y, Maltby E, Mateizel I, Mayshar Y, Mileikovsky M, Minger SL, Miyazaki T, Moon SY, Moore H, Mummery C, Nagy A, Nakatsuji N, Narwani K, Oh SK, Oh SK, Olson C, Otonkoski T, Pan F, Park IH, Pells S, Pera MF, Pereira LV, Qi O, Raj GS, Reubinoff B, Robins A, Robson P, Rossant J, Salekdeh GH, Schulz TC, Sermon K, Mohamed JS, Shen H, Sherrer E, Sidhu K, Sivarajah S, Skottman H, Spits C, Stacey GN, Strehl R, Strelchenko N, Suemori H, Sun B, Suuronen R, Takahashi K, Tuuri T, Venu P, Verlinsky Y, Oostwaard DW, Weisenberger DJ, Wu Y, Yamanaka S, Young L, Zhou Q. Nature Biotechnology. 2011. 29:1132-1144. Impact factor 2011: 23.268. Category and rank: biotechnology & applied microbiology, rank 2/160, Q1.

· Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease. Spits C, Seneca S, Hilven P, Liebaers I, Sermon K. Journal of Medical Genetics. 2010, 47:700-3. Impact factor 2010: 7.037. Category and rank: genetics & heredity, rank 19/161, Q1.

· Derivation, culture, and characterization of VUB hESC lines. Mateizel I*, Spits C*, De Rycke M, Liebaers I, Sermon K. In Vitro Cellular and Developmental Biology-Animal. 2010, 46:300-8. * Joint first authorship. Impact factor 2010: 0.914. Category and rank: cell biology, rank 165/185, Q4 or developmental biology, rank 38/41, Q4.

· Human embryonic stem cell lines derived from single blastomeres of two 4-cell stage embryos. Geens M, Mateizel I, Sermon K, De Rycke M, Spits C, Cauffman G, Devroey P, Tournaye H, Liebaers I, Van de Velde H. Human Reproduction. 2009, 11:2709-17. Impact factor 2009: 3.859. Category and rank: obstetrics & gynecology, rank 3/78, Q1 or reproductive biology, rank 2/28, Q1.

· Characterization of CD30 expression in hESC lines cultured in serum free media and mechanically passaged. Mateizel I, Spits C, Verloes A, Mertzanidou A, Liebaers I, Sermon K. Human Reproduction. 2009, 24:2477-89. Impact factor 2009: 3.859. Category and rank: obstetrics & gynecology, rank 3/78, Q1 or reproductive biology, rank 2/28, Q1.

· PGD for monogenic disorders: aspects of molecular biology. Spits C and Sermon K. Prenatal Diagnosis. 2009, 29:50-6. Impact factor 2009: 1.707. Category and rank: genetics & heredity, rank 78/161, Q2 or obstetrics and gynecology, rank 16/78, Q1.

· Recurrent chromosomal abnormalities in human embryonic stem cells. Spits C, Mateizel I, Geens M, Mertzanidou A, Staessen C, Vandeskelde Y, Van der Elst J, Liebaers I, Sermon K. Nature Biotechnology. 2008, 26:1361-3. Impact factor 2008: 22.297 Category and rank: biotechnology & applied microbiology, rank 2/160, Q1.

· Real and expected delivery rates of patients with myotonic dystrophy undergoing intracytoplasmic sperm injection and preimplantation genetic diagnosis. Verpoest W, De Rademaeker M, Sermon K, De Rycke M, Seneca S, Papanikolaou E, Spits C, Van Landuyt L, Van der Elst J, Haentjens P, Devroey P, Liebaers I. Human Reproduction. 2008, 23:1654-60. Impact factor 2008: 3.773. Category and rank: obstetrics & gynecology, rank 3/78, Q1 or reproductive biology, rank 2/28, Q1.

· Preimplantation genetic diagnosis for cancer predisposition syndromes. Spits C, De Rycke M, Van Ranst N, Verpoest W, Lissens W, Van Steirteghem A, Liebaers I, Sermon K. Prenatal Diagnosis. 2007, 27:447-456. Impact factor 2007: 1.319. Category and rank: obstetrics & gynecology, rank 18/78, Q1.

· Single-cell aneuploidy detection by array CGH. Le Caignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Moreau Y, Fryns JP, Van Steirteghem A, Liebaers I, Vermeesch RJ. Nucleic Acids Research. 2006, 34:e68. Impact factor 2006: 6.317. Category and rank: biochemistry & molecular biology, rank 22/291, Q1.

· Whole genome multiple displacement amplification from single-cells. Spits C*, Le Caignec C*, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, Sermon K. Nature Protocols. 2006, 1:1965-70. * Joint first authorship. No impact factor in 2006 (journal started in 2006, current impact factor: 9.924). Category and rank: biochemical research methods, rank 3/78, Q1.

· Development and evaluation of single-cell whole genome multiple displacement amplification. Spits C*, Le Caignec C*, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, Sermon K. Human Mutation. 2006, 27:496-503. * Joint first authorship. Impact factor 2006: 6.473. Category and rank: genetics & heredity, rank 25/165, Q1.

· Preimplantation genetic diagnosis for Marfan Syndrome. Spits C, De Rycke M, Verpoest W, Lissens W, Van Steirteghem A, Liebaers I, Sermon K. Fertility and Sterility. 2006, 86:310-20. Impact factor 2006: 3.277. Category and rank: obstetrics & gynecology, rank 4/78, Q1 or reproductive biology, rank 3/28, Q1.

· Preimplantation genetic diagnosis for Neurofibromatosis type 1. Spits C, De Rycke M, Van Ranst N, Joris H, Verpoest W, Lissens W, Devroey P, Van Steirteghem A, Liebaers I, Sermon K. Molecular Human Reproduction. 2005,11:381-7. Impact factor 2005: 3.191. Category and rank: obstetrics & gynecology, rank 3/78, Q1 or reproductive biology, rank 2/28, Q1.
1 Protocol published
Detection of Heteroplasmic Variants in the Mitochondrial Genome through Massive Parallel Sequencing
Authors:  Joke Mertens, Filippo Zambelli, Dorien Daneels, Ben Caljon, Karen Sermon and Claudia Spits, date: 07/05/2019, view: 174, Q&A: 0
Detecting heteroplasmies in the mitochondrial DNA (mtDNA) has been a challenge for many years. In the past, Sanger sequencing was the main option to perform this analysis, however, this method could not detect low frequency heteroplasmies. Massive ...
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