These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 36303224)

  • 1. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
    Du H; Jolly A; Grochowski CM; Yuan B; Dawood M; Jhangiani SN; Li H; Muzny D; Fatih JM; Coban-Akdemir Z; Carlin ME; Scheuerle AE; Witzl K; Posey JE; Pendleton M; Harrington E; Juul S; Hastings PJ; Bi W; Gibbs RA; Sedlazeck FJ; Lupski JR; Carvalho CMB; Liu P
    Genome Med; 2022 Oct; 14(1):122. PubMed ID: 36303224
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
    Liu P; Yuan B; Carvalho CMB; Wuster A; Walter K; Zhang L; Gambin T; Chong Z; Campbell IM; Coban Akdemir Z; Gelowani V; Writzl K; Bacino CA; Lindsay SJ; Withers M; Gonzaga-Jauregui C; Wiszniewska J; Scull J; Stankiewicz P; Jhangiani SN; Muzny DM; Zhang F; Chen K; Gibbs RA; Rautenstrauss B; Cheung SW; Smith J; Breman A; Shaw CA; Patel A; Hurles ME; Lupski JR
    Cell; 2017 Feb; 168(5):830-842.e7. PubMed ID: 28235197
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of novel candidate disease genes from de novo exonic copy number variants.
    Gambin T; Yuan B; Bi W; Liu P; Rosenfeld JA; Coban-Akdemir Z; Pursley AN; Nagamani SCS; Marom R; Golla S; Dengle L; Petrie HG; Matalon R; Emrick L; Proud MB; Treadwell-Deering D; Chao HT; Koillinen H; Brown C; Urraca N; Mostafavi R; Bernes S; Roeder ER; Nugent KM; Bader PI; Bellus G; Cummings M; Northrup H; Ashfaq M; Westman R; Wildin R; Beck AE; Immken L; Elton L; Varghese S; Buchanan E; Faivre L; Lefebvre M; Schaaf CP; Walkiewicz M; Yang Y; Kang SL; Lalani SR; Bacino CA; Beaudet AL; Breman AM; Smith JL; Cheung SW; Lupski JR; Patel A; Shaw CA; Stankiewicz P
    Genome Med; 2017 Sep; 9(1):83. PubMed ID: 28934986
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
    Beck CR; Carvalho CMB; Akdemir ZC; Sedlazeck FJ; Song X; Meng Q; Hu J; Doddapaneni H; Chong Z; Chen ES; Thornton PC; Liu P; Yuan B; Withers M; Jhangiani SN; Kalra D; Walker K; English AC; Han Y; Chen K; Muzny DM; Ira G; Shaw CA; Gibbs RA; Hastings PJ; Lupski JR
    Cell; 2019 Mar; 176(6):1310-1324.e10. PubMed ID: 30827684
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
    Yuan B; Harel T; Gu S; Liu P; Burglen L; Chantot-Bastaraud S; Gelowani V; Beck CR; Carvalho CM; Cheung SW; Coe A; Malan V; Munnich A; Magoulas PL; Potocki L; Lupski JR
    Am J Hum Genet; 2015 Nov; 97(5):691-707. PubMed ID: 26544804
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
    Bahrambeigi V; Song X; Sperle K; Beck CR; Hijazi H; Grochowski CM; Gu S; Seeman P; Woodward KJ; Carvalho CMB; Hobson GM; Lupski JR
    Genome Med; 2019 Dec; 11(1):80. PubMed ID: 31818324
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
    Hamanaka K; Miyake N; Mizuguchi T; Miyatake S; Uchiyama Y; Tsuchida N; Sekiguchi F; Mitsuhashi S; Tsurusaki Y; Nakashima M; Saitsu H; Yamada K; Sakamoto M; Fukuda H; Ohori S; Saida K; Itai T; Azuma Y; Koshimizu E; Fujita A; Erturk B; Hiraki Y; Ch'ng GS; Kato M; Okamoto N; Takata A; Matsumoto N
    Genome Med; 2022 Apr; 14(1):40. PubMed ID: 35468861
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
    Carvalho CMB; Coban-Akdemir Z; Hijazi H; Yuan B; Pendleton M; Harrington E; Beaulaurier J; Juul S; Turner DJ; Kanchi RS; Jhangiani SN; Muzny DM; Gibbs RA; ; Stankiewicz P; Belmont JW; Shaw CA; Cheung SW; Hanchard NA; Sutton VR; Bader PI; Lupski JR
    Genome Med; 2019 Apr; 11(1):25. PubMed ID: 31014393
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells.
    Hattori A; Okamura K; Terada Y; Tanaka R; Katoh-Fukui Y; Matsubara Y; Matsubara K; Kagami M; Horikawa R; Fukami M
    BMC Med Genomics; 2019 May; 12(1):77. PubMed ID: 31138192
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
    Sanchis-Juan A; Stephens J; French CE; Gleadall N; Mégy K; Penkett C; Shamardina O; Stirrups K; Delon I; Dewhurst E; Dolling H; Erwood M; Grozeva D; Stefanucci L; Arno G; Webster AR; Cole T; Austin T; Branco RG; Ouwehand WH; Raymond FL; Carss KJ
    Genome Med; 2018 Dec; 10(1):95. PubMed ID: 30526634
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
    Tsuiko O; El Ayeb Y; Jatsenko T; Allemeersch J; Melotte C; Ding J; Debrock S; Peeraer K; Vanhie A; De Leener A; Pirard C; Kluyskens C; Denayer E; Legius E; Vermeesch JR; Brems H; Dimitriadou E
    Hum Reprod; 2023 Mar; 38(3):511-519. PubMed ID: 36625546
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
    Verdin H; D'haene B; Beysen D; Novikova Y; Menten B; Sante T; Lapunzina P; Nevado J; Carvalho CM; Lupski JR; De Baere E
    PLoS Genet; 2013; 9(3):e1003358. PubMed ID: 23516377
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
    Zhang L; Wang J; Zhang C; Li D; Carvalho CMB; Ji H; Xiao J; Wu Y; Zhou W; Wang H; Jin L; Luo Y; Wu X; Lupski JR; Zhang F; Jiang Y
    Hum Mol Genet; 2017 May; 26(10):1927-1941. PubMed ID: 28334874
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
    Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; ; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; ; Earl RK; Nowakowski T; Bernier RA; Eichler EE
    Genome Med; 2021 Apr; 13(1):63. PubMed ID: 33874999
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.
    Perucca P; Anderson A; Jazayeri D; Hitchcock A; Graham J; Todaro M; Tomson T; Battino D; Perucca E; Ferri MM; Rochtus A; Lagae L; Canevini MP; Zambrelli E; Campbell E; Koeleman BPC; Scheffer IE; Berkovic SF; Kwan P; Sisodiya SM; Goldstein DB; Petrovski S; Craig J; Vajda FJE; O'Brien TJ;
    Ann Neurol; 2020 Jun; 87(6):897-906. PubMed ID: 32215971
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
    Warburton D; Ronemus M; Kline J; Jobanputra V; Williams I; Anyane-Yeboa K; Chung W; Yu L; Wong N; Awad D; Yu CY; Leotta A; Kendall J; Yamrom B; Lee YH; Wigler M; Levy D
    Hum Genet; 2014 Jan; 133(1):11-27. PubMed ID: 23979609
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
    Leppa VM; Kravitz SN; Martin CL; Andrieux J; Le Caignec C; Martin-Coignard D; DyBuncio C; Sanders SJ; Lowe JK; Cantor RM; Geschwind DH
    Am J Hum Genet; 2016 Sep; 99(3):540-554. PubMed ID: 27569545
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ohnologs are overrepresented in pathogenic copy number mutations.
    McLysaght A; Makino T; Grayton HM; Tropeano M; Mitchell KJ; Vassos E; Collier DA
    Proc Natl Acad Sci U S A; 2014 Jan; 111(1):361-6. PubMed ID: 24368850
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
    Glessner JT; Bick AG; Ito K; Homsy J; Rodriguez-Murillo L; Fromer M; Mazaika E; Vardarajan B; Italia M; Leipzig J; DePalma SR; Golhar R; Sanders SJ; Yamrom B; Ronemus M; Iossifov I; Willsey AJ; State MW; Kaltman JR; White PS; Shen Y; Warburton D; Brueckner M; Seidman C; Goldmuntz E; Gelb BD; Lifton R; Seidman J; Hakonarson H; Chung WK
    Circ Res; 2014 Oct; 115(10):884-896. PubMed ID: 25205790
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Copy number variation in Fayoumi and Leghorn chickens analyzed using array comparative genomic hybridization.
    Abernathy J; Li X; Jia X; Chou W; Lamont SJ; Crooijmans R; Zhou H
    Anim Genet; 2014 Jun; 45(3):400-11. PubMed ID: 24628374
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.