Publications by Doriana Misceo

69 publications found

1. Awamleh Z, Chen A, Choufani S, Rots D, Ko JM, Armour CM, Nowaczyk MJM, Hurst ACE, Gibson WT, Misceo D, Frengen E, Strømme P, Soliani L, McNiven V, Alkhunaizi E, Invernizzi F, Fernandes S, Sousa S, Amoros I, Scherer SW, Kwint M, Bienvenu T, Garavaglia BM, Ortigoza-Escobar JD, Weksberg R (2026)
   KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders
   Genet Med, 102636 (in press)
   DOI 10.1016/j.gim.2026.102636, PubMed 42318777
2. Misceo D, Strømme P, Sundaram AYM, Bjørnstad PM, Strand ME, Chawla MS, Frengen E (2026)
   A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20
   Genes (Basel), 17 (4)
   DOI 10.3390/genes17040378, PubMed 42074495
3. Lambton J, Asano S, Huang Y, Suomi F, Eguchi T, Petree C, Huang K, Prigent M, Imam A, McCorvie TJ, Warren D, Hobson E, McCullagh H, Misceo D, Bjerre A, Smeland MF, Klingenberg C, Frengen E, Naik S, Ryan G, Sudarsanam A, Foster K, Vasudevan P, Samanta R, Rahman F et al. (2026)
   Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder
   Am J Hum Genet, 113 (5), 1090-1107
   DOI 10.1016/j.ajhg.2026.03.002, PubMed 41895291
4. Canavati C, Oppebøen M, Verma R, Misceo D, Frengen E, Salvador CL, Martínez-Gil N, Cueto-González AM, Strømme P, Marthinsen PB, Costa-Roger M, Gómez-Andrés D, Vázquez E, Kulseth MA, Strand ME, Bjørnstad PM, Sundaram AYM, Nyman TA, Server A, Backe PH, Rofe DS, Mellul A, Zahdeh F, Renbaum P, Tizzano EF et al. (2026)
   Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription
   Genet Med, 28 (5), 102553
   DOI 10.1016/j.gim.2026.102553, PubMed 41842694
5. Hynes C, Williams E, Misceo D, Strømme P, Frengen E, Kakumani PK (2025)
   De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition
   Biochim Biophys Acta Mol Basis Dis, 1872 (3), 168104
   DOI 10.1016/j.bbadis.2025.168104, PubMed 41207398
6. Misceo D, Terkelsen T, Bøen Keim SM, Bjørnstad PM, Strand ME, Orszagh VC, Jensen UB, Frengen E (2025)
   CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6
   Clin Genet, 109 (4), 772-777
   DOI 10.1111/cge.70097, PubMed 41186962
7. Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S (2024)
   Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
   Commun Biol, 7 (1), 831
   DOI 10.1038/s42003-024-06466-1, PubMed 38977784
8. Misceo D, Strømme P, Bitarafan F, Chawla MS, Sheng Y, Bach de Courtade SM, Eide L, Frengen E (2024)
   Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
   Genes (Basel), 15 (4)
   DOI 10.3390/genes15040500, PubMed 38674434
9. Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E (2023)
   Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
   Genes (Basel), 14 (11)
   DOI 10.3390/genes14111985, PubMed 38002928
10. Misceo D, Lirussi L, Strømme P, Sumathipala D, Guerin A, Wolf NI, Server A, Stensland M, Dalhus B, Tolun A, Kroes HY, Nyman TA, Nilsen HL, Frengen E (2023)
    A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
    Brain, 146 (8), 3513-3527
    DOI 10.1093/brain/awad086, PubMed 36917474
11. Gamage TH, Grabmayr H, Horvath F, Fahrner M, Misceo D, Louch WE, Gunnes G, Pullisaar H, Reseland JE, Lyngstadaas SP, Holmgren A, Amundsen SS, Rathner P, Cerofolini L, Ravera E, Krobath H, Luchinat C, Renger T, Müller N, Romanin C, Frengen E (2023)
    A single amino acid deletion in the ER Ca²⁺ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation
    Sci Signal, 16 (771), eadd0509
    DOI 10.1126/scisignal.add0509, PubMed 36749824
12. Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK et al. (2022)
    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
    Genet Med, 25 (1), 90-102
    DOI 10.1016/j.gim.2022.09.010, PubMed 36318270
13. Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D (2022)
    ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
    Brain, 145 (7), 2602-2616
    DOI 10.1093/brain/awac034, PubMed 35104841
14. Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D et al. (2022)
    DNA methylation episignature in Gabriele-de Vries syndrome
    Genet Med, 24 (4), 905-914
    DOI 10.1016/j.gim.2021.12.003, PubMed 35027293
15. Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE et al. (2020)
    Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
    Hum Mutat, 41 (12), 2179-2194
    DOI 10.1002/humu.24127, PubMed 33131181
16. Chen CA, Crutcher E, Gill H, Nelson TN, Robak LA, Jongmans MCJ, Pfundt R, Prasad C, Berard RA, Fannemel M, Frengen E, Misceo D, Ramsey K, Yang Y, Schaaf CP, Wang X (2020)
    The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome
    Hum Mutat, 41 (10), 1738-1744
    DOI 10.1002/humu.24075, PubMed 32643838
17. Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH (2020)
    Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
    Hum Mol Genet, 29 (13), 2218-2239
    DOI 10.1093/hmg/ddaa108, PubMed 32504085
18. Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, Frengen E (2020)
    Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
    BMC Med Genet, 21 (1), 96
    DOI 10.1186/s12881-020-01024-y, PubMed 32381069
19. Sumathipala DS, Misceo D, Larsen SM, Barøy T, Gamage TH, Frengen E, Strømme P (2020)
    A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
    Clin Dysmorphol, 29 (2), 107-110
    DOI 10.1097/MCD.0000000000000314, PubMed 31929336
20. Gamage TH, Lengle E, Gunnes G, Pullisaar H, Holmgren A, Reseland JE, Merckoll E, Corti S, Mizobuchi M, Morales RJ, Tsiokas L, Tjønnfjord GE, Lacruz RS, Lyngstadaas SP, Misceo D, Frengen E (2019)
    STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
    Cell Calcium, 85, 102110
    DOI 10.1016/j.ceca.2019.102110, PubMed 31785581
21. 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, 96, 74-75
    DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. 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
29. 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
30. 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
31. 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
32. 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
33. 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
34. 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
35. 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
36. 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
37. 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
38. 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
39. 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
40. 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
41. 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
42. 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
43. 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
44. 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
45. 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
46. 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
47. 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
48. 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
49. 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
50. 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
51. 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
52. 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
53. 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
54. 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
55. 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
56. 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
57. 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
58. 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
59. 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
60. 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
61. 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
62. 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
63. 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
64. 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
65. Misceo D, Ventura M, Eder V, Rocchi M, Archidiacono N (2003)
    Human chromosome 16 conservation in primates
    Chromosome Res, 11 (4), 323-6
    DOI 10.1023/a:1024087823030, PubMed 12906128
66. 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
67. 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
68. 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
69. 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