Doriana Misceo

  • Senior engineer PhD
  • +47 23016628

Publications 2019

Sumathipala D, Strømme P, Gilissen C, Corominas J, Frengen E, Misceo D (2019)
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
Pediatr Neurol (in press)
DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414

Publications 2018

Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E (2018)
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
Cell Calcium, 76, 87-100
DOI 10.1016/j.ceca.2018.10.001, PubMed 30390422

Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C (2018)
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
Nat Genet, 50 (3), 344-348
DOI 10.1038/s41588-018-0063-6, PubMed 29483653

Strømme P, Groeneweg S, Lima de Souza EC, Zevenbergen C, Torgersbråten A, Holmgren A, Gurcan E, Meima ME, Peeters RP, Visser WE, Høneren Johansson L, Babovic A, Zetterberg H, Heuer H, Frengen E, Misceo D, Visser TJ (2018)
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
Thyroid, 28 (11), 1406-1415
DOI 10.1089/thy.2018.0595, PubMed 30296914

Publications 2017

Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer APM, Guipponi M, Hanquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, van Bokhoven H et al. (2017)
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
Genet Med, 20 (7), 778-784
DOI 10.1038/gim.2017.113, PubMed 28837161

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM et al. (2017)
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Am J Hum Genet, 100 (6), 907-925
DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647

Publications 2016

Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D (2016)
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ et al. (2016)
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Neurology, 86 (23), 2171-8
DOI 10.1212/WNL.0000000000002740, PubMed 27164704

Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P (2016)
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922

Pedurupillay CR, Landsend EC, Vigeland MD, Ansar M, Frengen E, Misceo D, Strømme P (2016)
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genes (Basel), 7 (8)
DOI 10.3390/genes7080041, PubMed 27472364

Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D (2016)
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Genes (Basel), 7 (12)
DOI 10.3390/genes7120108, PubMed 27916860

Publications 2015

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E (2015)
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
DOI 10.1093/hmg/ddv305, PubMed 26220973

Carlsen EØ, Frengen E, Fannemel M, Misceo D (2015)
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay
Am J Med Genet A, 167A (8), 1890-6
DOI 10.1002/ajmg.a.37079, PubMed 25846056

Hladilkova E, Barøy T, Fannemel M, Vallova V, Misceo D, Bryn V, Slamova I, Prasilova S, Kuglik P, Frengen E (2015)
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
Mol Cytogenet, 8, 57
DOI 10.1186/s13039-015-0157-0, PubMed 26236398

Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D (2015)
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
DOI 10.1002/ajmg.a.36944, PubMed 25691420

Publications 2014

Belengeanu V, Gamage TH, Farcas S, Stoian M, Andreescu N, Belengeanu A, Frengen E, Misceo D (2014)
A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
Gene, 539 (1), 168-72
DOI 10.1016/j.gene.2014.01.060, PubMed 24508274

Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D (2014)
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
Eur J Med Genet, 57 (9), 513-9
DOI 10.1016/j.ejmg.2014.05.008, PubMed 24911659

Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E (2014)
A dominant STIM1 mutation causes Stormorken syndrome
Hum Mutat, 35 (5), 556-64
DOI 10.1002/humu.22544, PubMed 24619930

Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C (2014)
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
PLoS One, 9 (1), e86340
DOI 10.1371/journal.pone.0086340, PubMed 24466038

Publications 2013

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E (2013)
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Orphanet J Rare Dis, 8, 3
DOI 10.1186/1750-1172-8-3, PubMed 23294540

Gamage TH, Misceo D, Fannemel M, Frengen E (2013)
A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy
Eur J Med Genet, 56 (7), 361-4
DOI 10.1016/j.ejmg.2013.04.005, PubMed 23664928

Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E (2013)
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression
Am J Med Genet A, 161A (5), 1137-42
DOI 10.1002/ajmg.a.35823, PubMed 23463539

Pedurupillay CR, Misceo D, Gamage TH, Dissanayake VH, Frengen E (2013)
Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay
Gene, 533 (1), 403-10
DOI 10.1016/j.gene.2013.09.090, PubMed 24095780

Publications 2012

Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E (2012)
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
Eur J Med Genet, 55 (12), 695-9
DOI 10.1016/j.ejmg.2012.08.002, PubMed 22986108

Misceo D, Barøy T, Helle JR, Braaten O, Fannemel M, Frengen E (2012)
1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development
Gene, 507 (1), 85-91
DOI 10.1016/j.gene.2012.07.021, PubMed 22842548

Publications 2011

Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E (2011)
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
Am J Med Genet A, 155A (2), 403-8
DOI 10.1002/ajmg.a.33798, PubMed 21271662

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE (2011)
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
DOI 10.1038/ejhg.2011.126, PubMed 21712855

Publications 2010

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E (2010)
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Eur J Med Genet, 53 (4), 221-4
DOI 10.1016/j.ejmg.2010.03.010, PubMed 20382277

Publications 2009

Misceo D, Fannemel M, Barøy T, Roberto R, Tvedt B, Jaeger T, Bryn V, Strømme P, Frengen E (2009)
SCA27 caused by a chromosome translocation: further delineation of the phenotype
Neurogenetics, 10 (4), 371-4
DOI 10.1007/s10048-009-0197-x, PubMed 19471976

Misceo D, Orstavik KH, Lybaek H, Sandvig I, Ormerod E, Houge G, Frengen E (2009)
Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother
Am J Med Genet A, 149A (12), 2877-81
DOI 10.1002/ajmg.a.33106, PubMed 19938092

Misceo D, Rocchi M, van der Hagen CB, Frengen E (2009)
A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22
Am J Med Genet A, 149A (2), 290-3
DOI 10.1002/ajmg.a.32623, PubMed 19161140

Publications 2008

Barøy T, Misceo D, Frengen E (2008)
[Structural variation in the human genome contributes to variation of traits]
Tidsskr Nor Laegeforen, 128 (17), 1951-5
PubMed 18787571

Carbone L, D'addabbo P, Cardone MF, Teti MG, Misceo D, Vessere GM, de Jong PJ, Rocchi M (2008)
A satellite-like sequence, representing a "clone gap" in the human genome, was likely involved in the seeding of a novel centromere in macaque
Chromosoma, 118 (2), 269-77
DOI 10.1007/s00412-008-0196-y, PubMed 19048265

Misceo D, Bjørgo K, Ormerod E, Ringen Ø, Rocchi M, van der Hagen CB, Frengen E (2008)
A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient
Am J Med Genet A, 146A (24), 3230-3
DOI 10.1002/ajmg.a.32582, PubMed 19012337

Misceo D, Capozzi O, Roberto R, Dell'oglio MP, Rocchi M, Stanyon R, Archidiacono N (2008)
Tracking the complex flow of chromosome rearrangements from the Hominoidea Ancestor to extant Hylobates and Nomascus Gibbons by high-resolution synteny mapping
Genome Res, 18 (9), 1530-7
DOI 10.1101/gr.078295.108, PubMed 18552313

Roberto R, Misceo D, D'Addabbo P, Archidiacono N, Rocchi M (2008)
Refinement of macaque synteny arrangement with respect to the official rheMac2 macaque sequence assembly
Chromosome Res, 16 (7), 977-85
DOI 10.1007/s10577-008-1255-1, PubMed 18841486

Stanyon R, Rocchi M, Capozzi O, Roberto R, Misceo D, Ventura M, Cardone MF, Bigoni F, Archidiacono N (2008)
Primate chromosome evolution: ancestral karyotypes, marker order and neocentromeres
Chromosome Res, 16 (1), 17-39
DOI 10.1007/s10577-007-1209-z, PubMed 18293103

Publications 2007

Cardone MF, Lomiento M, Teti MG, Misceo D, Roberto R, Capozzi O, D'Addabbo P, Ventura M, Rocchi M, Archidiacono N (2007)
Evolutionary history of chromosome 11 featuring four distinct centromere repositioning events in Catarrhini
Genomics, 90 (1), 35-43
DOI 10.1016/j.ygeno.2007.01.007, PubMed 17490852

Publications 2006

Carbone L, Nergadze SG, Magnani E, Misceo D, Francesca Cardone M, Roberto R, Bertoni L, Attolini C, Francesca Piras M, de Jong P, Raudsepp T, Chowdhary BP, Guérin G, Archidiacono N, Rocchi M, Giulotto E (2006)
Evolutionary movement of centromeres in horse, donkey, and zebra
Genomics, 87 (6), 777-82
DOI 10.1016/j.ygeno.2005.11.012, PubMed 16413164

She X, Liu G, Ventura M, Zhao S, Misceo D, Roberto R, Cardone MF, Rocchi M, NISC Comparative Sequencing Program, Green ED, Archidiacano N, Eichler EE (2006)
A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications
Genome Res, 16 (5), 576-83
DOI 10.1101/gr.4949406, PubMed 16606706

Publications 2005

Locke DP, Jiang Z, Pertz LM, Misceo D, Archidiacono N, Eichler EE (2005)
Molecular evolution of the human chromosome 15 pericentromeric region
Cytogenet Genome Res, 108 (1-3), 73-82
DOI 10.1159/000080804, PubMed 15545718

Publications 2004

Misceo D, Cardone MF, Carbone L, D'Addabbo P, de Jong PJ, Rocchi M, Archidiacono N (2004)
Evolutionary history of chromosome 20
Mol Biol Evol, 22 (2), 360-6
DOI 10.1093/molbev/msi021, PubMed 15496555

Ventura M, Weigl S, Carbone L, Cardone MF, Misceo D, Teti M, D'Addabbo P, Wandall A, Björck E, de Jong PJ, She X, Eichler EE, Archidiacono N, Rocchi M (2004)
Recurrent sites for new centromere seeding
Genome Res, 14 (9), 1696-703
DOI 10.1101/gr.2608804, PubMed 15342555

Publications 2003

Horvath JE, Gulden CL, Bailey JA, Yohn C, McPherson JD, Prescott A, Roe BA, de Jong PJ, Ventura M, Misceo D, Archidiacono N, Zhao S, Schwartz S, Rocchi M, Eichler EE (2003)
Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications
Mol Biol Evol, 20 (9), 1463-79
DOI 10.1093/molbev/msg158, PubMed 12777517

Locke DP, Archidiacono N, Misceo D, Cardone MF, Deschamps S, Roe B, Rocchi M, Eichler EE (2003)
Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster
Genome Biol, 4 (8), R50
DOI 10.1186/gb-2003-4-8-r50, PubMed 12914658

Misceo D, Ventura M, Eder V, Rocchi M, Archidiacono N (2003)
Human chromosome 16 conservation in primates
Chromosome Res, 11 (4), 323-6
PubMed 12906128

Publications 2002

Crosier M, Viggiano L, Guy J, Misceo D, Stones R, Wei W, Hearn T, Ventura M, Archidiacono N, Rocchi M, Jackson MS (2002)
Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms
Genome Res, 12 (1), 67-80
DOI 10.1101/gr.213702, PubMed 11779832

Publications 2001

Bailey JA, Yavor AM, Viggiano L, Misceo D, Horvath JE, Archidiacono N, Schwartz S, Rocchi M, Eichler EE (2001)
Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22
Am J Hum Genet, 70 (1), 83-100
DOI 10.1086/338458, PubMed 11731936

Eichler EE, Johnson ME, Alkan C, Tuzun E, Sahinalp C, Misceo D, Archidiacono N, Rocchi M (2001)
Divergent origins and concerted expansion of two segmental duplications on chromosome 16
J Hered, 92 (6), 462-8
DOI 10.1093/jhered/92.6.462, PubMed 11948212

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