Year |
Citation |
Score |
2023 |
David D, Fino J, Oliveira R, Dória S, Morton CC. Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage. Gene. 147737. PMID 37625567 DOI: 10.1016/j.gene.2023.147737 |
0.421 |
|
2021 |
Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L. Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome. Plos One. 16: e0253859. PMID 34228749 DOI: 10.1371/journal.pone.0253859 |
0.321 |
|
2020 |
Nalbandian K, Piña-Aguilar RE, Morton CC. Resolving Breakpoints of Chromosomal Rearrangements at the Nucleotide Level Using Sanger Sequencing. Current Protocols in Human Genetics. 108: e107. PMID 33369263 DOI: 10.1002/cphg.107 |
0.356 |
|
2020 |
David D, Freixo JP, Fino J, Carvalho I, Marques M, Cardoso M, Piña-Aguilar RE, Morton CC. Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape. Human Genetics. PMID 32030560 DOI: 10.1007/s00439-020-02121-x |
0.369 |
|
2019 |
Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tüttelmann F, MacQueen AJ, Morton CC. SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. American Journal of Human Genetics. PMID 31866047 DOI: 10.1016/J.Ajhg.2019.11.013 |
0.336 |
|
2019 |
Dong Z, Yan J, Xu F, Yuan J, Jiang H, Wang H, Chen H, Zhang L, Ye L, Xu J, Shi Y, Yang Z, Cao Y, Chen L, Li Q, ... ... Morton CC, et al. Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage. American Journal of Human Genetics. PMID 31679651 DOI: 10.1016/J.Ajhg.2019.10.003 |
0.344 |
|
2019 |
Wang H, Dong Z, Zhang R, Chau MHK, Yang Z, Tsang KYC, Wong HK, Gui B, Meng Z, Xiao K, Zhu X, Wang Y, Chen S, Leung TY, Cheung SW, ... ... Morton CC, et al. Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31447483 DOI: 10.1038/s41436-019-0634-7 |
0.381 |
|
2018 |
Wilch ES, Morton CC. Historical and Clinical Perspectives on Chromosomal Translocations. Advances in Experimental Medicine and Biology. 1044: 1-14. PMID 29956287 DOI: 10.1007/978-981-13-0593-1_1 |
0.433 |
|
2018 |
Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29915380 DOI: 10.1038/S41436-018-0040-6 |
0.304 |
|
2018 |
Dong Z, Ye L, Yang Z, Chen H, Yuan J, Wang H, Guo X, Li Y, Wang J, Chen F, Cheung SW, Morton CC, Jiang H, Choy KW. Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing. Current Protocols in Human Genetics. 96: 8.18.1-8.18.16. PMID 29364520 DOI: 10.1002/cphg.51 |
0.409 |
|
2018 |
Zepeda-Mendoza CJ, Bardon A, Kammin T, Harris DJ, Cox H, Redin C, Ordulu Z, Talkowski ME, Morton CC. Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. European Journal of Human Genetics : Ejhg. PMID 29321672 DOI: 10.1038/S41431-017-0068-0 |
0.403 |
|
2017 |
Schilit SLP, Morton CC. 3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants. Human Genetics. PMID 29196799 DOI: 10.1007/s00439-017-1853-0 |
0.337 |
|
2017 |
Dong Z, Wang H, Chen H, Jiang H, Yuan J, Yang Z, Wang WJ, Xu F, Guo X, Cao Y, Zhu Z, Geng C, Cheung WC, Kwok YK, Yang H, ... ... Morton CC, et al. Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29095815 DOI: 10.1038/gim.2017.170 |
0.374 |
|
2017 |
Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, ... ... Morton CC, et al. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. American Journal of Human Genetics. PMID 28735859 DOI: 10.1016/J.Ajhg.2017.06.011 |
0.358 |
|
2016 |
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, ... ... Morton CC, et al. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature Genetics. PMID 27841880 DOI: 10.1038/Ng.3720 |
0.395 |
|
2016 |
Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin CE, Collins RL, Blumenthal I, Hanscom C, Pereira S, Bradley I, Crandall BF, Gerrol P, Hayden MA, Hussain N, Kanengisser-Pines B, ... ... Morton CC, et al. Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. American Journal of Human Genetics. PMID 27745839 DOI: 10.1016/J.Ajhg.2016.08.022 |
0.384 |
|
2016 |
Schilit SL, Currall BB, Yao R, Hanscom C, Collins RL, Pillalamarri V, Lee DY, Kammin T, Zepeda-Mendoza CJ, Mononen T, Nolan LS, Gusella JF, Talkowski ME, Shen J, Morton CC. Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. European Journal of Human Genetics : Ejhg. PMID 27381092 DOI: 10.1038/Ejhg.2016.64 |
0.353 |
|
2016 |
Giersch AB, Bieber FR, Dubuc AM, Fletcher JA, Ligon AH, Mason-Suares H, Morton CC, Weremowicz S, Xiao S, Dal Cin P. Reporting of Diagnostic Cytogenetic Results. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. 89: A.1D.1-A.1D.23. PMID 27037490 DOI: 10.1002/0471142905.hg01ds89 |
0.398 |
|
2014 |
Romeike BF, Shen Y, Nishimoto HK, Morton CC, Layman LC, Kim HG. Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion. Clinical Neuropathology. 33: 238-44. PMID 24780589 DOI: 10.5414/Np300691 |
0.31 |
|
2014 |
Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC. Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. American Journal of Human Genetics. 94: 695-709. PMID 24746958 DOI: 10.1016/J.Ajhg.2014.03.020 |
0.363 |
|
2013 |
Baris HN, Chan WM, Andrews C, Behar DM, Donovan DJ, Morton CC, Ranells J, Pal T, Ligon AH, Engle EC. Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Clinical Case Reports. 1. PMID 24416505 DOI: 10.1002/Ccr3.11 |
0.316 |
|
2013 |
Currall BB, Chiang C, Talkowski ME, Morton CC. Mechanisms for Structural Variation in the Human Genome. Current Genetic Medicine Reports. 1: 81-90. PMID 23730541 DOI: 10.1007/S40142-013-0012-8 |
0.312 |
|
2013 |
Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I, Chiang C, Ernst C, Pereira S, Ordulu Z, Clericuzio C, Drautz JM, Rosenfeld JA, Shaffer LG, Velsher L, Pynn T, ... ... Morton CC, et al. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Human Genetics. 132: 537-52. PMID 23354975 DOI: 10.1007/S00439-013-1263-X |
0.313 |
|
2012 |
Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC. Clinical diagnosis by whole-genome sequencing of a prenatal sample. The New England Journal of Medicine. 367: 2226-32. PMID 23215558 DOI: 10.1056/Nejmoa1208594 |
0.302 |
|
2012 |
Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, ... ... Morton CC, et al. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nature Genetics. 44: 390-7, S1. PMID 22388000 DOI: 10.1038/Ng.2202 |
0.498 |
|
2012 |
Lachke SA, Higgins AW, Inagaki M, Saadi I, Xi Q, Long M, Quade BJ, Talkowski ME, Gusella JF, Fujimoto A, Robinson ML, Yang Y, Duong QT, Shapira I, Motro B, ... ... Morton CC, et al. The cell adhesion gene PVRL3 is associated with congenital ocular defects. Human Genetics. 131: 235-50. PMID 21769484 DOI: 10.1007/S00439-011-1064-Z |
0.303 |
|
2011 |
Ligon AH, Morton CC, Bieber FR, Fletcher JA, Giersch AB, Kantarci S, Leach N, Lee C, Sandstrom M, Weremowicz S, Xiao S, Dal Cin P. Reporting of diagnostic cytogenetic results. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. 1D. PMID 21735374 DOI: 10.1002/0471142905.hga01ds70 |
0.463 |
|
2011 |
Poitras JL, Costa D, Kluk MJ, Amrein PC, Stone RM, Lee C, Dal Cin P, Morton CC. Genomic alterations in myeloid neoplasms with novel, apparently balanced translocations. Cancer Genetics. 204: 68-76. PMID 21504705 DOI: 10.1016/J.Cancergen.2010.12.005 |
0.504 |
|
2011 |
Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. American Journal of Human Genetics. 88: 469-81. PMID 21473983 DOI: 10.1016/J.Ajhg.2011.03.013 |
0.322 |
|
2010 |
Ligon AH, Morton CC, Bieber FR, Fletcher JA, Giersch AB, Kantarci S, Leach N, Lee C, Sandstrom M, Weremowicz S, Xiao S, Dal Cin P. Reporting of diagnostic cytogenetic results. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. 1D.1-23. PMID 20891028 DOI: 10.1002/0471142905.hga01ds67 |
0.463 |
|
2010 |
Ordulu Z, Dal Cin P, Chong WW, Choy KW, Lee C, Muto MG, Quade BJ, Morton CC. Disseminated peritoneal leiomyomatosis after laparoscopic supracervical hysterectomy with characteristic molecular cytogenetic findings of uterine leiomyoma. Genes, Chromosomes & Cancer. 49: 1152-60. PMID 20842731 DOI: 10.1002/gcc.20824 |
0.343 |
|
2010 |
Brown KK, Reiss JA, Crow K, Ferguson HL, Kelly C, Fritzsch B, Morton CC. Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35). Human Genetics. 127: 19-31. PMID 19707792 DOI: 10.1007/S00439-009-0736-4 |
0.311 |
|
2009 |
Hodge JC, Park PJ, Dreyfuss JM, Assil-Kishawi I, Somasundaram P, Semere LG, Quade BJ, Lynch AM, Stewart EA, Morton CC. Identifying the molecular signature of the interstitial deletion 7q subgroup of uterine leiomyomata using a paired analysis. Genes, Chromosomes & Cancer. 48: 865-85. PMID 19603527 DOI: 10.1002/Gcc.20692 |
0.309 |
|
2009 |
Brown KK, Alkuraya FS, Matos M, Robertson RL, Kimonis VE, Morton CC. NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. American Journal of Medical Genetics. Part A. 149: 931-8. PMID 19353646 DOI: 10.1002/ajmg.a.32764 |
0.386 |
|
2008 |
Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, ... ... Morton CC, et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. American Journal of Human Genetics. 82: 712-22. PMID 18319076 DOI: 10.1016/J.Ajhg.2008.01.011 |
0.403 |
|
2008 |
Lee C, Morton CC. Structural genomic variation and personalized medicine. The New England Journal of Medicine. 358: 740-1. PMID 18272898 DOI: 10.1056/NEJMcibr0708452 |
0.362 |
|
2007 |
Hodge JC, Morton CC. Genetic heterogeneity among uterine leiomyomata: insights into malignant progression. Human Molecular Genetics. 16: R7-13. PMID 17613550 DOI: 10.1093/Hmg/Ddm043 |
0.357 |
|
2007 |
Williamson RE, Darrow KN, Michaud S, Jacobs JS, Jones MC, Eberl DF, Maas RL, Liberman MC, Morton CC. Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis. American Journal of Medical Genetics. Part A. 143: 1630-9. PMID 17534888 DOI: 10.1002/Ajmg.A.31724 |
0.363 |
|
2004 |
Ligon AH, Morton CC, Bieber FR, Fletcher JA, Giersch AB, Lee C, Sandstrom M, Weremowicz S, Xiao S, Dal Cin P. Reporting of diagnostic cytogenetic results. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. Appendix 1D. PMID 18428350 DOI: 10.1002/0471142905.hga01ds43 |
0.463 |
|
2004 |
Roberts AE, Irons MB, Kimonis VE, Mulliken JB, Morton CC, Lee C, Listewnik M. Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. American Journal of Medical Genetics. Part A. 130: 204-7. PMID 15372522 DOI: 10.1002/Ajmg.A.30223 |
0.489 |
|
2004 |
Gross KL, Panhuysen CI, Kleinman MS, Goldhammer H, Jones ES, Nassery N, Stewart EA, Morton CC. Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies. Genes, Chromosomes & Cancer. 41: 183-90. PMID 15334541 DOI: 10.1002/gcc.20079 |
0.318 |
|
2003 |
Quade BJ, Weremowicz S, Neskey DM, Vanni R, Ladd C, Dal Cin P, Morton CC. Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15. Cancer Research. 63: 1351-8. PMID 12649198 |
0.347 |
|
2002 |
Ligon AH, Scott IC, Takahara K, Greenspan DS, Morton CC. PCOLCE deletion and expression analyses in uterine leiomyomata. Cancer Genetics and Cytogenetics. 137: 133-7. PMID 12393284 DOI: 10.1016/s0165-4608(02)00547-2 |
0.356 |
|
2002 |
Picker JD, Cox GF, Fan YS, Fowler DJ, Weremowicz S, Morton CC, Lee C. Multicolor karyotypic interpretation of a heterochromatin-associated marker chromosome in a dysmorphic girl with developmental delay. American Journal of Medical Genetics. 110: 393-6. PMID 12116216 DOI: 10.1002/ajmg.10477 |
0.469 |
|
2002 |
Zhu C, Mills KD, Ferguson DO, Lee C, Manis J, Fleming J, Gao Y, Morton CC, Alt FW. Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocations. Cell. 109: 811-21. PMID 12110179 DOI: 10.1016/S0092-8674(02)00770-5 |
0.499 |
|
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