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Page 1
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho CH, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Kokitsu-Nakata NM, Tonello C, Vendramini-Pittoli S, da Silva Dalben G, Balasubramanian R, Dwyer AA, Seminara SB, Crowley WF, Plummer L, Hall JE, Graham JM, Lin AE, Shaw ND. Delaney A, et al. Among authors: law jr. J Clin Endocrinol Metab. 2020 May 1;105(5):1538-51. doi: 10.1210/clinem/dgaa065. J Clin Endocrinol Metab. 2020. PMID: 32034419 Free PMC article.
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: law 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.
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: law jr. Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. Nat Genet. 2017. PMID: 28546579 No abstract available.
Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.
Klamut N, Bothwell S, Carl AE, Bamba V, Law JR, Brickman WJ, Klein KO, Kanakatti Shankar R, Pinnaro CT, Fechner PY, Prakash SK, Gutmark-Little I, Howell S, Tartaglia N, Good M, Ranallo KC, Davis SM. Klamut N, et al. Among authors: law jr. Am J Med Genet A. 2024 Dec;194(12):e63819. doi: 10.1002/ajmg.a.63819. Epub 2024 Jul 17. Am J Med Genet A. 2024. PMID: 39016627
EndoBridge 2023: highlights and pearls.
Yildiz BO, Boguszewski CL, da Silva Boguszewski MC, Busetto L, Celik O, Fuleihan GE, Goulis DG, Hammer GD, Haymart MR, Kaltsas G, Law JR, Lim AYL, Luger A, Macut D, McGowan B, McClung M, Miras AD, Patti ME, Peeters RP, Pignatelli D, Saeed H, Sipos J, Stratakis CA, Tsoli M, van der Lely AJ, Witchel SF, Yazici D. Yildiz BO, et al. Among authors: law jr. Hormones (Athens). 2024 Jun;23(2):183-204. doi: 10.1007/s42000-024-00549-8. Epub 2024 Apr 15. Hormones (Athens). 2024. PMID: 38619812
Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry.
Kanakatti Shankar R, Carl A, Law JR, Bamba V, Brickman WJ, Prakash SK, Dowlut McElroy T, Howell S, Gutmark Little I, Klein KO, Pinnaro CT, Ranallo K, Good M, Davis SM. Kanakatti Shankar R, et al. Among authors: law jr. Am J Med Genet A. 2024 Feb;194(2):311-319. doi: 10.1002/ajmg.a.63441. Epub 2023 Oct 12. Am J Med Genet A. 2024. PMID: 37827984
Social cognitive processes explain bias in juror decisions.
Castrellon JJ, Hakimi S, Parelman JM, Yin L, Law JR, Skene JAG, Ball DA, Malekpour A, Beskind DH, Vidmar N, Pearson JM, Skene JHP, Carter RM. Castrellon JJ, et al. Among authors: law jr. Soc Cogn Affect Neurosci. 2023 Feb 23;18(1):nsac057. doi: 10.1093/scan/nsac057. Soc Cogn Affect Neurosci. 2023. PMID: 36264228 Free PMC article.
60 results