441 related articles for article (PubMed ID: 21331778)
1. Revisiting Mendelian disorders through exome sequencing.
Ku CS; Naidoo N; Pawitan Y
Hum Genet; 2011 Apr; 129(4):351-70. PubMed ID: 21331778
[TBL] [Abstract][Full Text] [Related]
2. Finding disease variants in Mendelian disorders by using sequence data: methods and applications.
Ionita-Laza I; Makarov V; Yoon S; Raby B; Buxbaum J; Nicolae DL; Lin X
Am J Hum Genet; 2011 Dec; 89(6):701-12. PubMed ID: 22137099
[TBL] [Abstract][Full Text] [Related]
3. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J; Drabova J; Holubova A; Vlckova M; Havlovicova M; Gregorova A; Pourova R; Romankova V; Moslerova V; Geryk J; Norambuena P; Krulisova V; Krepelova A; Macek M; Macek M
Eur J Med Genet; 2018 Jun; 61(6):315-321. PubMed ID: 29307790
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing identifies the cause of a mendelian disorder.
Ng SB; Buckingham KJ; Lee C; Bigham AW; Tabor HK; Dent KM; Huff CD; Shannon PT; Jabs EW; Nickerson DA; Shendure J; Bamshad MJ
Nat Genet; 2010 Jan; 42(1):30-5. PubMed ID: 19915526
[TBL] [Abstract][Full Text] [Related]
5. Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome.
Green B; Nikkhah D; Cobb AR; Dunaway DJ
J Plast Reconstr Aesthet Surg; 2013 Aug; 66(8):e234-5. PubMed ID: 23664577
[No Abstract] [Full Text] [Related]
6. Exome sequencing greatly expedites the progressive research of Mendelian diseases.
Zhang X
Front Med; 2014 Mar; 8(1):42-57. PubMed ID: 24384736
[TBL] [Abstract][Full Text] [Related]
7. Exome sequencing makes medical genomics a reality.
Biesecker LG
Nat Genet; 2010 Jan; 42(1):13-4. PubMed ID: 20037612
[TBL] [Abstract][Full Text] [Related]
8. Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.
Aref-Eshghi E; Bourque DK; Kerkhof J; Carere DA; Ainsworth P; Sadikovic B; Armour CM; Lin H
Hum Mutat; 2019 Oct; 40(10):1684-1689. PubMed ID: 31268616
[TBL] [Abstract][Full Text] [Related]
9. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.
Rabbani B; Mahdieh N; Hosomichi K; Nakaoka H; Inoue I
J Hum Genet; 2012 Oct; 57(10):621-32. PubMed ID: 22832387
[TBL] [Abstract][Full Text] [Related]
10. Could the MED13 mutations manifest as a Kabuki-like syndrome?
De Nardi L; Faletra F; D'Adamo AP; Bianco AMR; Athanasakis E; Bruno I; Barbi E
Am J Med Genet A; 2021 Feb; 185(2):584-590. PubMed ID: 33258286
[TBL] [Abstract][Full Text] [Related]
11. An automatic and efficient pipeline for disease gene identification through utilizing family-based sequencing data.
Song D; Li N; Liao L
Biomed Mater Eng; 2015; 26 Suppl 1():S1797-803. PubMed ID: 26405949
[TBL] [Abstract][Full Text] [Related]
12. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Bramswig NC; Lüdecke HJ; Alanay Y; Albrecht B; Barthelmie A; Boduroglu K; Braunholz D; Caliebe A; Chrzanowska KH; Czeschik JC; Endele S; Graf E; Guillén-Navarro E; Kiper PÖ; López-González V; Parenti I; Pozojevic J; Utine GE; Wieland T; Kaiser FJ; Wollnik B; Strom TM; Wieczorek D
Hum Genet; 2015 Jun; 134(6):553-68. PubMed ID: 25724810
[TBL] [Abstract][Full Text] [Related]
13. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
Badalato L; Farhan SM; Dilliott AA; ; Bulman DE; Hegele RA; Goobie SL
Am J Med Genet A; 2017 Jan; 173(1):183-189. PubMed ID: 27991736
[TBL] [Abstract][Full Text] [Related]
14. MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N; Koshimizu E; Okamoto N; Mizuno S; Ogata T; Nagai T; Kosho T; Ohashi H; Kato M; Sasaki G; Mabe H; Watanabe Y; Yoshino M; Matsuishi T; Takanashi J; Shotelersuk V; Tekin M; Ochi N; Kubota M; Ito N; Ihara K; Hara T; Tonoki H; Ohta T; Saito K; Matsuo M; Urano M; Enokizono T; Sato A; Tanaka H; Ogawa A; Fujita T; Hiraki Y; Kitanaka S; Matsubara Y; Makita T; Taguri M; Nakashima M; Tsurusaki Y; Saitsu H; Yoshiura K; Matsumoto N; Niikawa N
Am J Med Genet A; 2013 Sep; 161A(9):2234-43. PubMed ID: 23913813
[TBL] [Abstract][Full Text] [Related]
15. De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Yang P; Tan H; Xia Y; Yu Q; Wei X; Guo R; Peng Y; Chen C; Li H; Mei L; Huang Y; Liang D; Wu L
Am J Med Genet A; 2016 Jun; 170(6):1613-21. PubMed ID: 27028180
[TBL] [Abstract][Full Text] [Related]
16. wANNOVAR: annotating genetic variants for personal genomes via the web.
Chang X; Wang K
J Med Genet; 2012 Jul; 49(7):433-6. PubMed ID: 22717648
[TBL] [Abstract][Full Text] [Related]
17. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
Xin C; Wang C; Wang Y; Zhao J; Wang L; Li R; Liu J
BMC Med Genet; 2018 Feb; 19(1):31. PubMed ID: 29482518
[TBL] [Abstract][Full Text] [Related]
18. Exome sequencing as a tool for Mendelian disease gene discovery.
Bamshad MJ; Ng SB; Bigham AW; Tabor HK; Emond MJ; Nickerson DA; Shendure J
Nat Rev Genet; 2011 Sep; 12(11):745-55. PubMed ID: 21946919
[TBL] [Abstract][Full Text] [Related]
19. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
Tunovic S; Barkovich J; Sherr EH; Slavotinek AM
Am J Med Genet A; 2014 Jul; 164A(7):1744-9. PubMed ID: 24838796
[TBL] [Abstract][Full Text] [Related]
20. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P; van Bon BW; Steehouwer M; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EM; Del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Izatt L; Flores R; Galán E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis Cl; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Psoni S; Reardon W; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JH; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BB; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A
Clin Genet; 2013 Dec; 84(6):539-45. PubMed ID: 23320472
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]