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Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case.

Taylor DL, Wildin RS, Morley KW. Taylor DL, et al. Among authors: wildin rs. Pediatr Dermatol. 2021 Mar;38(2):536-537. doi: 10.1111/pde.14480. Epub 2020 Dec 16. Pediatr Dermatol. 2021. PMID: 33325571

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IPEX and FOXP3: clinical and research perspectives.

Wildin RS, Freitas A. Wildin RS, et al. J Autoimmun. 2005;25 Suppl:56-62. doi: 10.1016/j.jaut.2005.04.008. Epub 2005 Oct 21. J Autoimmun. 2005. PMID: 16243487 Review.

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Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

Bagheri H, Badduke C, Qiao Y, Colnaghi R, Abramowicz I, Alcantara D, Dunham C, Wen J, Wildin RS, Nowaczyk MJ, Eichmeyer J, Lehman A, Maranda B, Martell S, Shan X, Lewis SM, O'Driscoll M, Gregory-Evans CY, Rajcan-Separovic E. Bagheri H, et al. Among authors: wildin rs. JCI Insight. 2016 Mar 17;1(3):e85461. doi: 10.1172/jci.insight.85461. JCI Insight. 2016. PMID: 27699255 Free PMC article.

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Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

Wildin RS, Smyk-Pearson S, Filipovich AH. Wildin RS, et al. J Med Genet. 2002 Aug;39(8):537-45. doi: 10.1136/jmg.39.8.537. J Med Genet. 2002. PMID: 12161590 Free PMC article. Review.

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Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME. Ernst C, et al. Among authors: wildin rs. Arch Gen Psychiatry. 2012 Dec;69(12):1238-46. doi: 10.1001/archgenpsychiatry.2012.660. Arch Gen Psychiatry. 2012. PMID: 23044507 Free PMC article.

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Functional dissection of the murine lck distal promoter.

Wildin RS, Wang HU, Forbush KA, Perlmutter RM. Wildin RS, et al. J Immunol. 1995 Aug 1;155(3):1286-95. J Immunol. 1995. PMID: 7636195

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Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL. Kazenwadel J, et al. Among authors: wildin rs. Blood. 2012 Feb 2;119(5):1283-91. doi: 10.1182/blood-2011-08-374363. Epub 2011 Dec 6. Blood. 2012. PMID: 22147895 Free PMC article.

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Developmental regulation of lck gene expression in T lymphocytes.

Wildin RS, Garvin AM, Pawar S, Lewis DB, Abraham KM, Forbush KA, Ziegler SF, Allen JM, Perlmutter RM. Wildin RS, et al. J Exp Med. 1991 Feb 1;173(2):383-93. doi: 10.1084/jem.173.2.383. J Exp Med. 1991. PMID: 1988541 Free PMC article.

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X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bricarelli FD, Byrne G, McEuen M, Proll S, Appleby M, Brunkow ME. Wildin RS, et al. Nat Genet. 2001 Jan;27(1):18-20. doi: 10.1038/83707. Nat Genet. 2001. PMID: 11137992

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Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR. Wildin RS, et al. Am J Hum Genet. 1994 Aug;55(2):266-77. Am J Hum Genet. 1994. PMID: 7913579 Free PMC article.

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