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Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Hildebrandt CC, Patel N, Graham JM Jr, Bamshad M, Nickerson DA, White JJ, Marvin CT, Miller DE; University of Washington Center for Mendelian Genomics; Grand KL, Sanchez-Lara PA, Schweitzer D, Al-Zaidan HI, Al Masseri Z, Alkuraya FS, Lin AE. Hildebrandt CC, et al. Am J Med Genet A. 2021 Jul;185(7):2136-2149. doi: 10.1002/ajmg.a.62194. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783941
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study; Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network; Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators; Masuelli L, Conti V, Novarino G, Fassio A. Guerrini R, et al. Brain. 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145. Brain. 2022. PMID: 35675510 Free PMC article.
Validity of claims-based algorithms to identify neurodevelopmental disorders in children.
Straub L, Bateman BT, Hernandez-Diaz S, York C, Zhu Y, Suarez EA, Lester B, Gonzalez L, Hanson R, Hildebrandt C, Homsi J, Kang D, Lee KWK, Lee Z, Li L, Longacre M, Shah N, Tukan N, Wallace F, Williams C, Zerriny S, Mogun H, Huybrechts KF. Straub L, et al. Pharmacoepidemiol Drug Saf. 2021 Dec;30(12):1635-1642. doi: 10.1002/pds.5369. Epub 2021 Oct 15. Pharmacoepidemiol Drug Saf. 2021. PMID: 34623720 Free PMC article.
Quality of care metrics for patients with inborn errors of metabolism.
Adams MC, Jalazo ER, Hildebrandt CC, Wong J, Mascaro-Deen SJ, Berg JS. Adams MC, et al. Among authors: hildebrandt cc. Mol Genet Metab. 2022 May;136(1):1-3. doi: 10.1016/j.ymgme.2022.03.005. Epub 2022 Mar 15. Mol Genet Metab. 2022. PMID: 35314103
12 results