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13 results

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Page 1
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Kuroda Y, Iwata-Otsubo A, Dias KR, Temple SEL, Nagao K, De Hayr L, Zhu Y, Isobe SY, Nishibuchi G, Fiordaliso SK, Fujita Y, Rippert AL, Baker SW, Leung ML, Koboldt DC, Harman A, Keena BA, Kazama I, Subramanian GM, Manickam K, Schmalz B, Latsko M, Zackai EH, Edwards M, Evans CA, Dulik MC, Buckley MF, Yamashita T, O'Brien WT, Harvey RJ, Obuse C, Roscioli T, Izumi K. Kuroda Y, et al. Among authors: rippert al. Genet Med. 2023 Jul;25(7):100861. doi: 10.1016/j.gim.2023.100861. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37087635 Free article.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Gray C, Jobling R, Pannia E, Platzer K, Prescott K, Redman M, Rippert AL, Rosenfeld JA, Scott DA, Wang YW, Schmederer Z, Dalal A, Sarma AS, Skraban C, Dowling JJ, Mendoza-Londono R, Slavotinek A, Bhoj EJ. Priestley JRC, et al. Among authors: rippert al. Genet Med. 2023 Aug;25(8):100863. doi: 10.1016/j.gim.2023.100863. Epub 2023 Apr 28. Genet Med. 2023. PMID: 37125634 Free article.
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Priestley JRC, Rippert AL, Condit C, Izumi K, Kallish S, Drivas TG. Priestley JRC, et al. Among authors: rippert al. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):128-138. doi: 10.1002/ajmg.c.32054. Epub 2023 Jun 9. Am J Med Genet C Semin Med Genet. 2023. PMID: 37296540
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
Keisling J, Bedoukian E, Burstein DS, Gaynor JW, Gray C, Krantz I, Izumi K, Leonard J, Lin KY, Medne L, Seymour C, Skraban C, Rippert AL, Ahrens-Nicklas RC. Keisling J, et al. Among authors: rippert al. J Pediatr. 2024 Feb;265:113808. doi: 10.1016/j.jpeds.2023.113808. Epub 2023 Nov 3. J Pediatr. 2024. PMID: 37923198
Expanding the clinical phenotype and variant spectrum associated with RFX7.
Sisroe T, Santos AD, Rippert AL, Gray C, Skraban CM, Nelson B, Tefft S, Helbig I, Li D, Bhoj EJ, Sobering AK. Sisroe T, et al. Among authors: rippert al. Am J Med Genet A. 2024 Dec;194(12):e63816. doi: 10.1002/ajmg.a.63816. Epub 2024 Jul 15. Am J Med Genet A. 2024. PMID: 39007708
Listening to patients with suspected genetic diagnoses: A narrative perspective.
Slocum RB, Hurst ACE, Shelley E, Berry L, Hopkin RJ, Rippert AL, Bhoj E, Graham JM Jr, Grand K, Gonzalez A, Zarate YA. Slocum RB, et al. Among authors: rippert al. Am J Med Genet C Semin Med Genet. 2024 Nov;196(2-3):e32079. doi: 10.1002/ajmg.c.32079. Epub 2023 Dec 4. Am J Med Genet C Semin Med Genet. 2024. PMID: 38050656 No abstract available.
13 results