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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: lozano r. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Focused Revision: ACMG practice resource: Genetic evaluation of short stature.
Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R; ACMG Professional Practice and Guidelines Committee. Mintz CS, et al. Among authors: lozano r. Genet Med. 2021 May;23(5):813-815. doi: 10.1038/s41436-020-01046-0. Epub 2021 Jan 29. Genet Med. 2021. PMID: 33514815 Free article. No abstract available.
Methadone use in a male with the FMRI premutation and FXTAS.
Muzar Z, Lozano R, Schneider A, Adams PE, Faradz SM, Tassone F, Hagerman RJ. Muzar Z, et al. Among authors: lozano r. Am J Med Genet A. 2015 Jun;167(6):1354-9. doi: 10.1002/ajmg.a.37030. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900641 Free PMC article.
763 results