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17 results

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Page 1
PNPLA6 disorders: what's in a name?
Liu J, Hufnagel RB. Liu J, et al. Ophthalmic Genet. 2023 Dec;44(6):530-538. doi: 10.1080/13816810.2023.2254830. Epub 2023 Nov 20. Ophthalmic Genet. 2023. PMID: 37732399 Free PMC article. Review.
Ocular genetics in the genomics age.
Walter MA, Rezaie T, Hufnagel RB, Arno G. Walter MA, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):860-868. doi: 10.1002/ajmg.c.31844. Epub 2020 Sep 8. Am J Med Genet C Semin Med Genet. 2020. PMID: 32896097 Free PMC article. Review.
Ophthalmic genetics in South America.
Daich Varela M, Moya R, Schlottmann PG, Hufnagel RB, Arberas C, Fernández FM, Inga ME, Lores J, Pachajoa H, Prada CE, Sallum JMF. Daich Varela M, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):753-761. doi: 10.1002/ajmg.c.31832. Epub 2020 Aug 28. Am J Med Genet C Semin Med Genet. 2020. PMID: 32856789 Free PMC article.
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.
Deignan JL, Aggarwal V, Bale AE, Bellissimo DB, Booker JK, Cao Y, Crooks KR, Deak KL, Del Gaudio D, Funke B, Hoppman NL, Horner V, Hufnagel RB, Jackson-Cook C, Koduru P, Leung ML, Li S, Liu P, Luo M, Mao R, Mason-Suares H, Mikhail FM, Moore SR, Naeem RC, Pollard LM, Repnikova EA, Shao L, Shaw BM, Shetty S, Smolarek TA, Spiteri E, Van Ziffle J, Vance GH, Vnencak-Jones CL, Williams ES. Deignan JL, et al. Genet Med Open. 2024;2:101820. doi: 10.1016/j.gimo.2024.101820. Epub 2024 Feb 1. Genet Med Open. 2024. PMID: 39175871 Free PMC article.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Schnur RE, Yousaf S, Liu J, Chung WK, Rhodes L, Marble M, Zambrano RM, Sobreira N, Jayakar P, Pierpont ME, Schultz MJ, Pichurin PN, Olson RJ, Graham GE, Osmond M, Contreras-García GA, Campo-Neira KA, Peñaloza-Mantilla CA, Flage M, Kuppa S, Navarro K, Sacoto MJG, Wentzensen IM, Scarano MI, Juusola J, Prada CE, Hufnagel RB. Schnur RE, et al. Genet Med. 2021 Sep;23(9):1624-1635. doi: 10.1038/s41436-021-01182-1. Epub 2021 May 26. Genet Med. 2021. PMID: 34040189 Free PMC article.
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group. Hufnagel RB, et al. Hum Mutat. 2022 May;43(5):613-624. doi: 10.1002/humu.24365. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35266249 Free PMC article.
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