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De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J. Douglas G, et al. Among authors: williams l. Am J Med Genet A. 2018 Sep;176(9):1845-1851. doi: 10.1002/ajmg.a.40368. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055086
Familial visceral neuropathy: a defined entity?
Roper EC, Gibson A, McAlindon ME, Williams LH, Cook JA, Kandler RH, Quarrell OW. Roper EC, et al. Among authors: williams lh. Am J Med Genet A. 2005 Sep 1;137A(3):249-54. doi: 10.1002/ajmg.a.30880. Am J Med Genet A. 2005. PMID: 16088914 Review.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG. Lopes Abath Neto O, et al. Among authors: williams l. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.
Predictors of Functional Impairment in Bipolar Disorder: Results From 13 Cohorts From Seven Countries by the Global Bipolar Cohort Collaborative.
Burdick KE, Millett CE, Yocum AK, Altimus CM, Andreassen OA, Aubin V, Belzeaux R, Berk M, Biernacka JM, Blumberg HP, Cleare AJ, Diaz-Byrd C, Dubertret C, Etain B, Eyler LT, Forester BP, Fullerton JM, Frye MA, Gard S, Godin O, Haffen E, Klaus F, Lagerberg TV, Leboyer M, Martinez-Aran A, McElroy S, Mitchell PB, Olie E, Olorunfemi P, Passerieux C, Peters AT, Pham DL, Polosan M, Potter JR, Sajatovic M, Samalin L, Schwan R, Shanahan M, Solé B, Strawbridge R, Stuart AL, Torres I, Ueland T, Vieta E, Williams LJ, Wrobel AL, Yatham LN, Young AH, Nierenberg AA, McInnis MG. Burdick KE, et al. Among authors: williams lj. Focus (Am Psychiatr Publ). 2023 Oct;21(4):444-452. doi: 10.1176/appi.focus.23021021. Epub 2023 Oct 15. Focus (Am Psychiatr Publ). 2023. PMID: 38694997
Allergen-encapsulating Nanoparticles Reprogram Pathogenic Allergen-Specific Th2 Cells to Suppress Food Allergy.
Saunders MN, Rad LM, Williams LA, Landers JJ, Urie RR, Hocevar SE, Quiros M, Chiang MY, Angadi AR, Janczak KW, Bealer EJ, Crumley K, Benson OE, Griffin KV, Ross BC, Parkos CA, Nusrat A, Miller SD, Podojil JR, O'Konek JJ, Shea LD. Saunders MN, et al. Among authors: williams la. Adv Healthc Mater. 2024 May 1:e2400237. doi: 10.1002/adhm.202400237. Online ahead of print. Adv Healthc Mater. 2024. PMID: 38691819
6,608 results