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Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Balasubramanian R, Crowley WF Jr. Balasubramanian R, et al. Among authors: crowley wf jr. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):507-515. doi: 10.1002/ajmg.c.31585. Epub 2017 Nov 20. Am J Med Genet C Semin Med Genet. 2017. PMID: 29152903 Free PMC article. Review.
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C, Messina A, Somm E, Miraoui H, Kinnunen T, Acierno J Jr, Niederländer NJ, Bouilly J, Dwyer AA, Sidis Y, Cassatella D, Sykiotis GP, Quinton R, De Geyter C, Dirlewanger M, Schwitzgebel V, Cole TR, Toogood AA, Kirk JM, Plummer L, Albrecht U, Crowley WF Jr, Mohammadi M, Tena-Sempere M, Prevot V, Pitteloud N. Xu C, et al. Among authors: crowley wf jr. EMBO Mol Med. 2017 Oct;9(10):1379-1397. doi: 10.15252/emmm.201607376. EMBO Mol Med. 2017. PMID: 28754744 Free PMC article.
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. Shaw ND, et al. Among authors: crowley wf jr. Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. Nat Genet. 2017. PMID: 28546579 No abstract available.
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency.
Balasubramanian R, Crowley WF Jr. Balasubramanian R, et al. Among authors: crowley wf jr. 2007 May 23 [updated 2017 Mar 2]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 20301509 Free Books & Documents. Review.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. Shaw ND, et al. Among authors: crowley wf jr. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067909 Free PMC article.
Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.
Stamou MI, Cox KH, Crowley WF Jr. Stamou MI, et al. Among authors: crowley wf jr. Endocr Rev. 2016 Feb;2016(1):4-22. doi: 10.1210/er.2015-1045.2016.1.test. Endocr Rev. 2016. PMID: 27454361 Free PMC article. Review.
Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.
Stamou MI, Cox KH, Crowley WF Jr. Stamou MI, et al. Among authors: crowley wf jr. Endocr Rev. 2015 Dec;36(6):603-21. doi: 10.1210/er.2015-1045. Epub 2015 Sep 22. Endocr Rev. 2015. PMID: 26394276 Free PMC article. Review.
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wołczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr. Choi JH, et al. Among authors: crowley wf jr. J Clin Endocrinol Metab. 2015 Oct;100(10):E1378-85. doi: 10.1210/jc.2015-2262. Epub 2015 Jul 24. J Clin Endocrinol Metab. 2015. PMID: 26207952 Free PMC article.
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF Jr. Balasubramanian R, et al. Among authors: crowley wf jr. Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):17953-8. doi: 10.1073/pnas.1417438111. Epub 2014 Dec 3. Proc Natl Acad Sci U S A. 2014. PMID: 25472840 Free PMC article.
Endocrine Society 2014 Laureate Awards.
Gustafsson JA, Katzenellenbogen B, Jameson JL, Roth J, Melmed S, McDonnell D, Wartofsky L, Crowley WF Jr, Griz LH, Becker C, Moore DD, Drucker D, Singh N, O'Malley B. Gustafsson JA, et al. Among authors: crowley wf jr. Horm Cancer. 2014 Oct;5(5):339-55. doi: 10.1007/s12672-014-0193-y. Horm Cancer. 2014. PMID: 25091407 No abstract available.
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