Publications by Doriana Misceo

61 publications found

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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
13. 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
14. 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
15. 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
16. 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
17. 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
18. 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
19. 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
20. 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
21. 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
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. 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
29. 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
30. 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
31. 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
32. 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
33. 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
34. 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
35. 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
36. 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
37. 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
38. 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
39. 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
40. 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
41. 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
42. 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
43. 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
44. 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
45. 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
46. 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
47. 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
48. 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
49. 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
50. 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
51. 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
52. 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
53. 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
54. 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
55. 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
56. 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
57. 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
58. 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
59. 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
60. 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
61. 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