kirstine.ravn@cpr.ku.dk

Photo of Kirstine

Short profile

I am a Molecular Biologist (cand. scient, cand. polyt, PhD) with a strong clinical and scientific background. I joined Simon’s lab in 2020 and in 2021, an additional title as M.Sc. Bioinformatics and Systems Biology, from the Technical University of Denmark (DTU), have been applied to my CV. Currently, I have a postdoc position at Novo Nordisk Foundation Center for Protein Research. My career focus points are causes, diagnosis, and inheritance of human genetic diseases, with a recent focus on applied bioinformatics analysis of ancient and present-day human genomes in a High-Performance Computing (HPC) environment.

Brief CV

  • Postdoc position at the Novo Nordisk Foundation Center for Protein Research (http://www.cpr.ku.dk/), University of Copenhagen, Denmark. Research project: The CCR5delta32 in ancient and present-day human genomes.
  • Molecular Biologist at the Dept. of Clinical Genetics, Rigshospitalet, Copenhagen. Functional assessment of the pathogenicity of variants in patients with mitochondrial disorders and implementations of new genetic testing strategies.
  • Molecular Biologist at The Kennedy Center, Glostrup. The position was split between research and routine diagnostics. Main research: Patients with Rett syndrome and X-linked diseases, with the focus on gene expression and methylation. Responsible for accreditation of Real-time quantitative PCR (qPCR), and analysis for copy number variations. Interpreting laboratory results from Array CGH, MLPA, qPCR, sequencing analysis, and issuing diagnostic reports.
  • Postdoc position at the NeuroCluster, Copenhagen University’s Faculty of Health Sciences. Project: Age-dependent reactivation of X-linked genes.
  • PhD student at the. Faculty of Health Sciences, Univ. Copenhagen, entitled Molecular genetic investigations of Rett syndrome.
  • Scientist at the Dept. of Clinical Genetics, Rigshospitalet, Copenhagen.Development, implementation, and execution of genetic analysis.

List of publications

  • Analysis of the Phenotypes in the Rett Networked Database. Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A. Int J Genomics. 2019; 2019: 6956934.

  • Analysis of the Phenotypes mutations in SCN1A are associated with classic Rett syndrome: a case report. Henriksen MW*, Ravn K* , Paus B, , von Tetzchner S, Skjeldal OH. BMC Med Genet. 2018 Oct 11;19(1):184.(*Shared first authorship)

  • The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease. Hasholt L, Ballegaard M, Bundgaard H, Christiansen M, Law I, Lund AM, Norremolle A, Krogh Rasmussen A, Ravn K, Tumer Z, Wibrand F, Feldt-Rasmussen U. Scand J Clin Lab Invest. 2017 Dec;77(8):617-621.

  • Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling. Grønborg S, Darin N, Miranda MJ, Damgaard B, Cayuela JA, Oldfors A, Kollberg G, Hansen TVO, Ravn K, Wibrand F, Østergaard E. JIMD Rep. 2017;33:69-77. doi: 10.1007/8904_2016_582.

  • The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštěk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O’Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R. J Med Genet. 2016 Jul 13. pii: jmedgenet-2016-103910. doi: 10.1136/jmedgenet-2016-103910.

  • The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. Schönewolf-Greulich B, Tejada MI, Stephens K, Hadzsiev K, GauthierJ, Brøndum-Nielsen K, Pfundt R, Ravn K, Maortua H, Gener B, Martínez-Bouzas C, Piton A, Rouleau G, Clayton-Smith J, Kleefstra T, Bisgaard AM, Tümer Z. Clin Genet. 2016 Mar 3. doi: 10.1111/cge.12769.

  • MECP2 duplication syndrome: Evidence of enhanced oxidative stress. A comparison with rett syndrome. Signorini C, De Felice C, Leoncini S, Møller RS, Zollo G, Buoni S, Cortelazzo A, Guerranti R, Durand T, Ciccoli L, D’Esposito M, Ravn K*, Hayek J*. *These authors contributed equally to this work. PLoS One. 2016 Mar 1;11(3):e0150101

  • Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. J Inherit Metab Dis. 2015 Oct 16

  • Hearing Impairment and Renal Failure Associated with RMND1 Mutations. Ravn K, Neland M, Wibrand F, Duno M, Ostergaard E. Am J Med Genet A. 2016Jan;170(1):142-7.

  • Clinical molecular genetics diagnostics of Rett syndrome in Denmark. Schönewolf-Greulich B, Dunø M, Ravn K, Brøndum-Nielsen K, Bisgaard AM. Ugeskr Laeger. 2015 Jun 29;177(27).

  • Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome. Boyle MI, Jespersgaard C, Nazaryan L, Ravn K, Brøndum-Nielsen K, Bisgaard AM, Tümer Z.Gene. 2015 Jul 8. pii: S0378-1119(15)00826-4.

  • Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012. Bisgaard AM, Schönewolf-Greulich B, Ravn K, Rønde G. Eur J Paediatr Neurol. 2015 Nov;19(6):679-.

  • Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations. Ravn K, Schönewolf-Greulich B, Hansen RM, Bohr AH, Duno M, Wibrand F,Ostergaard E. Mol Genet Metab Rep., Volume 3, June 2015.

  • Exercise intolerance and myoglobinuria associated with a novel maternally inherited mitochondrial ND1 mutation. Rafiq J, Duno M, Østergaard E, Ravn K, Vissing CR, Wibrand F, Vissing J. JIMD Rep. 2015 Jun 25

  • Brain derived neurotrophic factor (BDNF) and autism spectrum disorders (ASD) in childhood. Bryn V, Halvorsen B, Ueland T, Isaksen J, Kolkova K, Ravn K, Skjeldal OH. Eur J Paediatr Neurol. 2015 Mar 18.

  • Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jønson L, Duno M, Wibrand F, Shoubridge EA, Vissing J. J Med Genet. 2015 Mar;52(3):203-7.

  • CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. Am J Hum Genet. 2015 Feb 5;96(2):258-65.

  • Microdeletions including FMR1 in Three Female Patients with Intellectual Disability - further Delineation of the Phenotype and Expression Studies. Zink A., Wohlleber E., Engels H., Rødningen O., Ravn K., Heilmann S., Rehnitz J., Katzorke N., Kraus C., Blichfeldt S., Hoffmann P., Reutter H., Brockschmidt F., Kreiß-Nachtsheim M., Vogt P., Prescott T., Tümer Z., Lee J. Mol Syndromol. 2014 Feb;5(2):65-75.

  • Low bone turnover phenotype in Rett syndrome: Results of biochemical bone marker analysis. Roende G, Petersen J, Ravn K, Fuglsang K, Andersen H, Nielsen JB, Brøndum-Nielsen K, Jensen JE. Pediatr Res. 2013 Dec 27.

  • X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T. Hum Genet. 2014 May

  • Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family. Schönewolf-Greulich B, Ravn K, Hamborg-Petersen B, Brøndum-Nielsen K, Tümer Z. Am J Med Genet A. 2013 Sep;161(9):2358-62.

  • De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature. Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K. Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7.

  • Rett networked database: an integrated clinical and genetic network of Rett syndrome databases. Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Martinez AR, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A.Hum Mutat. 2012 Jul;33(7):1031-6.

  • Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair. Ravn K, Lindquist SG, Nielsen K, Dahm TL, Tümer Z. Clin Genet. 2012 Sep;82(3):292-4.

  • Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region. Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z. Am J Med Genet A. 2011 Dec;155A(12):2964-9.

  • Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes. Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB. Am J Med Genet A. 2011 Nov;155A(11):2841-54.

  • Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH. Orphanet J Rare Dis. 2011 Aug 30;6:58. Review.

  • Three new loci for determining X chromosome inactivation patterns. Bertelsen B, Tümer Z, Ravn K. J Mol Diagn. 2011 Sep;13(5):537-40.

  • DXA measurements in Rett syndrome reveal small bones with low bone mass. Roende G, Ravn K, Fuglsang K, Andersen H, Nielsen JB, Brøndum-Nielsen K, Jensen JE. J Bone Miner Res. 2011 Sep;26(9):2280-6.

  • Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. Grønskov K, Poole RL, Hahnemann JM, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ. J Med Genet. 2011 May;48(5):308-11.

  • Diploid/triploid mosaicism: a rare event or an under-diagnosed syndrome? Boonen SE, Hoffmann AL, Donnai D, Tümer Z, Ravn K. Eur J Med Genet. 2011 May-Jun;54(3):374-5.

  • Patients with Rett syndrome sustain low-energy fractures. Roende G, Ravn K, Fuglsang K, Andersen H, Vestergaard A, Brøndum-Nielsen K, Jensen JE, Nielsen JB. Pediatr Res. 2011 Apr;69(4):359-64.

  • Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy. Klitten LL, Møller RS, Ravn K, Hjalgrim H, Tommerup N. Eur J Hum Genet. 2011 Jan;19(1):1-2.

  • Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. Dad S, Østergaard E, Thykjaer T, Albrectsen A, Ravn K, Rosenberg T, Møller LB. Clin Genet. 2010 Oct;78(4):388-97.

  • A thorough MECP2 mutation analysis. Ravn K, Nielsen JB. Clin Genet. 2008 Dec;74(6)

  • Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, Knudsen GP, McDonnell A, Perry J, Whatley SD, Bunyan DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Orstavik KH, Reilly S, Cass H, Clarke A, Kerr AM, Bailey ME. Eur J Hum Genet. 2005 Oct;13(10):1121-30.

  • Early onset seizures and Rett-like features associated with mutations in CDKL5. Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. Eur J Hum Genet. 2005 Oct;13(10):1113-20.

  • Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. Ravn K, Nielsen JB, Schwartz M. Clin Genet. 2005 Jun;67(6):532-3.

  • Large genomic rearrangements in MECP2. Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M. Hum Mutat. 2005 Mar;25(3):324.

  • No correlation between phenotype and genotype in boys with a truncating MECP2 mutation. Ravn K, Nielsen JB, Uldall P, Hansen FJ, Schwartz M. J Med Genet. 2003 Jan;40(1):e5.

  • Multiple mtDNA deletions with features of MNGIE. Vissing J, Ravn K, Danielsen ER, Dunø M, Wibrand F, Wevers RA, Schwartz M. Neurology. 2002 Sep 24;59(6):926-9.

  • An mtDNA mutation, 14453G–>A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Ravn K, Wibrand F, Hansen FJ, Horn N, Rosenberg T, Schwartz M. Eur J Hum Genet. 2001 Oct;9(10):805-9.

  • A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2. Nielsen JB, Ravn K, Schwartz M. Brain Dev. 2001 Dec;23 Suppl 1:S230-2.

  • Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. Wibrand F, Ravn K, Schwartz M, Rosenberg T, Horn N, Vissing J. Ann Neurol. 2001 Oct;50(4):540-3.

  • Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.

  • Chloupková M, Ravn K, Schwartz M, Kraus JP. Mol Genet Metab. 2000 Dec;71(4):623-32.

  • High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M. Am J Hum Genet. 2000 Jul;67(1):203-6.

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