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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2015 Feb;167A(2):271-81. doi: 10.1002/ajmg.a.36863. Epub 2014 Nov 13. Am J Med Genet A. 2015. PMID: 25394726 Free PMC article.
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2016 Mar;170(3):559-64. doi: 10.1002/ajmg.a.37471. Epub 2015 Nov 17. Am J Med Genet A. 2016. PMID: 26572961 Free PMC article.
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
Robbins KM, Stabley DL, Holbrook J, Sahraoui R, Sadreameli A, Conard K, Baker L, Gripp KW, Sol-Church K. Robbins KM, et al. Among authors: gripp kw. Am J Med Genet A. 2016 Dec;170(12):3197-3206. doi: 10.1002/ajmg.a.37949. Epub 2016 Sep 2. Am J Med Genet A. 2016. PMID: 27589201 Free PMC article.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Mefford HC, Sol-Church K. LaCroix AJ, et al. Among authors: gripp kw. Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13. Am J Hum Genet. 2019. PMID: 30554721 Free PMC article.
Medically actionable comorbidities in adults with Costello syndrome.
Shikany AR, Baker L, Stabley DL, Robbins K, Doyle D, Gripp KW, Weaver KN. Shikany AR, et al. Among authors: gripp kw. Am J Med Genet A. 2020 Jan;182(1):130-136. doi: 10.1002/ajmg.a.61394. Epub 2019 Nov 3. Am J Med Genet A. 2020. PMID: 31680412
Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic.
Kirwin SM, Robbins KM, Vinette KMB, Hirata L, Gripp KW, Funanage VL. Kirwin SM, et al. Among authors: gripp kw. Dela J Public Health. 2021 Dec 15;7(5):24-27. doi: 10.32481/djph.2021.12.008. eCollection 2021 Dec. Dela J Public Health. 2021. PMID: 35619972 Free PMC article.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: gripp kw. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
204 results