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Page 1
A Participatory Framework for Plain Language Clinical Management Guideline Development.
Francisco R, Alves S, Gomes C, Granjo P, Pascoal C, Brasil S, Neves A, Santos I, Miller A, Krasnewich D, Morava E, Lam C, Jaeken J, Videira PA, Dos Reis Ferreira V. Francisco R, et al. Among authors: krasnewich d. Int J Environ Res Public Health. 2022 Oct 19;19(20):13506. doi: 10.3390/ijerph192013506. Int J Environ Res Public Health. 2022. PMID: 36294089 Free PMC article.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. Kanca O, et al. Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. Am J Hum Genet. 2019. PMID: 31491411 Free PMC article. No abstract available.
Lysosomal storage disorders in the newborn.
Staretz-Chacham O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E. Staretz-Chacham O, et al. Among authors: krasnewich d. Pediatrics. 2009 Apr;123(4):1191-207. doi: 10.1542/peds.2008-0635. Pediatrics. 2009. PMID: 19336380 Free PMC article. Review.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network; McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M. Accogli A, et al. Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005. Am J Hum Genet. 2019. PMID: 31585109 Free PMC article.
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA. Leroy JG, et al. Among authors: krasnewich dm. Am J Hum Genet. 2001 Jun;68(6):1419-27. doi: 10.1086/320598. Epub 2001 Apr 18. Am J Hum Genet. 2001. PMID: 11326336 Free PMC article.
Quantitative dysmorphology assessment in Fabry disease.
Ries M, Moore DF, Robinson CJ, Tifft CJ, Rosenbaum KN, Brady RO, Schiffmann R, Krasnewich D. Ries M, et al. Among authors: krasnewich d. Genet Med. 2006 Feb;8(2):96-101. doi: 10.1097/01.gim.0000200950.25118.dd. Genet Med. 2006. PMID: 16481892 Free article.
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network; Shashi V, Pena LDM. Tan QK, et al. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 29970384 Free PMC article.
141 results