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Page 1
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free article.
Pediatric Feeding Disorder: Consensus Definition and Conceptual Framework.
Goday PS, Huh SY, Silverman A, Lukens CT, Dodrill P, Cohen SS, Delaney AL, Feuling MB, Noel RJ, Gisel E, Kenzer A, Kessler DB, Kraus de Camargo O, Browne J, Phalen JA. Goday PS, et al. Among authors: phalen ja. J Pediatr Gastroenterol Nutr. 2019 Jan;68(1):124-129. doi: 10.1097/MPG.0000000000002188. J Pediatr Gastroenterol Nutr. 2019. PMID: 30358739 Free PMC article.
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW. Schaaf CP, et al. Among authors: phalen ja. Eur J Hum Genet. 2012 Dec;20(12):1240-7. doi: 10.1038/ejhg.2012.95. Epub 2012 May 23. Eur J Hum Genet. 2012. PMID: 22617343 Free PMC article.
Fragile X syndrome.
Phalen JA. Phalen JA. Pediatr Rev. 2005 May;26(5):181-2. doi: 10.1542/pir.26-5-181. Pediatr Rev. 2005. PMID: 16562360 No abstract available.
Self-injury and mental retardation in a 7-year-old boy.
Stein MT, Blum NJ, Lukasik MK, Crescenzi V, Kimball CE, Phalen JA, Volz VA, Fay L, Schechtman M. Stein MT, et al. Among authors: phalen ja. J Dev Behav Pediatr. 2005 Jun;26(3):241-5. doi: 10.1097/00004703-200506000-00013. J Dev Behav Pediatr. 2005. PMID: 15956876 No abstract available.
Index of suspicion.
Riederer M, Phalen JA, Moe PG, Salazar ML, Eiland LS. Riederer M, et al. Among authors: phalen ja. Pediatr Rev. 2005 Jun;26(6):218-25. doi: 10.1542/pir.26-6-218. Pediatr Rev. 2005. PMID: 15930329 No abstract available.