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Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. Among authors: dunn p. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
What is the incidence of holoprosencephaly?
Saunders ES, Shortland D, Dunn PM. Saunders ES, et al. Among authors: dunn pm. J Med Genet. 1984 Feb;21(1):21-6. doi: 10.1136/jmg.21.1.21. J Med Genet. 1984. PMID: 6694181 Free PMC article.
Longitudinal patterns and predictors of response to standard-of-care therapy in lupus nephritis: data from the Accelerating Medicines Partnership Lupus Network.
Izmirly PM, Kim MY, Carlucci PM, Preisinger K, Cohen BZ, Deonaraine K, Zaminski D, Dall'Era M, Kalunian K, Fava A, Belmont HM, Wu M, Putterman C, Anolik J, Barnas JL, Diamond B, Davidson A, Wofsy D, Kamen D, James JA, Guthridge JM, Apruzzese W, Rao DA, Weisman MH; Accelerating Medicines Partnership in RA/SLE Network; Petri M, Buyon J, Furie R. Izmirly PM, et al. Arthritis Res Ther. 2024 Feb 20;26(1):54. doi: 10.1186/s13075-024-03275-z. Arthritis Res Ther. 2024. PMID: 38378664 Free PMC article.
Advancing patient-centered research practices in a pragmatic patient-level randomized clinical trial: A thematic analysis of stakeholder engagement in Emergency Medicine Palliative Care Access (EMPallA).
Zhao N, Cuthel AM, Storms O, Zhang R, Yamarik RL, Hill J, Kaur R, Van Allen K, Flannery M, Chang A, Chung F, Randhawa S, Alvarez IC, Young-Brinn A, Kizzie-Gillett CL, Rosini D, Isaacs ED, Hopkins E 3rd, Chan GK, Booker-Vaughns J, Maguire M, Navarro M, Pidatala NR, Dunn P, Williams P, Galvin R, Batra R, Welsh S, Vaughan W, Bouillon-Minois JB, Grudzen CR. Zhao N, et al. Among authors: dunn p. Res Involv Engagem. 2024 Jan 23;10(1):10. doi: 10.1186/s40900-023-00539-x. Res Involv Engagem. 2024. PMID: 38263088 Free PMC article.
1,061 results