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Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.
Heilmann-Heimbach S, Herold C, Hochfeld LM, Hillmer AM, Nyholt DR, Hecker J, Javed A, Chew EG, Pechlivanis S, Drichel D, Heng XT, Del Rosario RC, Fier HL, Paus R, Rueedi R, Galesloot TE, Moebus S, Anhalt T, Prabhakar S, Li R, Kanoni S, Papanikolaou G, Kutalik Z, Deloukas P, Philpott MP, Waeber G, Spector TD, Vollenweider P, Kiemeney LA, Dedoussis G, Richards JB, Nothnagel M, Martin NG, Becker T, Hinds DA, Nöthen MM. Heilmann-Heimbach S, et al. Among authors: javed a. Nat Commun. 2017 Mar 8;8:14694. doi: 10.1038/ncomms14694. Nat Commun. 2017. PMID: 28272467 Free PMC article.
An integrative model of pathway convergence in genetically heterogeneous blast crisis chronic myeloid leukemia.
Ko TK, Javed A, Lee KL, Pathiraja TN, Liu X, Malik S, Soh SX, Heng XT, Takahashi N, Tan JHJ, Bhatia R, Khng AJ, Chng WJ, Sia YY, Fruman DA, Ng KP, Chan ZE, Xie KJ, Hoi Q, Chan CX, Teo ASM, Velazquez Camacho O, Meah WY, Khor CC, Ong CTJ, Soon WJW, Tan P, Ng PC, Chuah C, Hillmer AM, Ong ST. Ko TK, et al. Among authors: javed a. Blood. 2020 Jun 25;135(26):2337-2353. doi: 10.1182/blood.2020004834. Blood. 2020. PMID: 32157296 Free article.
Isolation and 3D expansion of multipotent Sox9+ mouse lung progenitors.
Nichane M, Javed A, Sivakamasundari V, Ganesan M, Ang LT, Kraus P, Lufkin T, Loh KM, Lim B. Nichane M, et al. Among authors: javed a. Nat Methods. 2017 Dec;14(12):1205-1212. doi: 10.1038/nmeth.4498. Epub 2017 Nov 6. Nat Methods. 2017. PMID: 29106405
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. Gordon CT, et al. Among authors: javed a. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067911 Free article.
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM. Williams LB, et al. Among authors: javed a. Genet Med. 2019 Sep;21(9):2103-2115. doi: 10.1038/s41436-019-0476-3. Epub 2019 Apr 10. Genet Med. 2019. PMID: 30967659 Free PMC article.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palanda… See abstract for full author list ➔ Brownstein CA, et al. Among authors: javed a. Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53. Genome Biol. 2014. PMID: 24667040 Free PMC article.
Redefining prognostication of de novo cytogenetically normal acute myeloid leukemia in young adults.
Tsui SP, Ip HW, Saw NY, Zhang C, Cheung AK, Ng NK, Man CH, Lam SS, Tang WF, Lin CH, Cheng GH, Au CH, Ma ES, Chan TL, So JC, Ng MH, Cheng KC, Wong KF, Siu LP, Yip SF, Lin SY, Lau JS, Luk TH, Lee HK, Lau CK, Kho B, Sim JP, Kwong YL, Leung SY, Javed A, Leung AY. Tsui SP, et al. Among authors: javed a. Blood Cancer J. 2020 Oct 19;10(10):104. doi: 10.1038/s41408-020-00373-4. Blood Cancer J. 2020. PMID: 33077814 Free PMC article. No abstract available.
1,080 results