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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. Among authors: robbins km. 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. Among authors: robbins km. 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.
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: robbins km. 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.
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
Lenherr-Taube N, Young EJ, Furman M, Elia Y, Assor E, Chitayat D, Uster T, Kirwin S, Robbins K, Vinette KMB, Daneman A, Marshall CR, Collins C, Thummel K, Sochett E, Levine MA. Lenherr-Taube N, et al. J Clin Endocrinol Metab. 2021 Sep 27;106(10):2915-2937. doi: 10.1210/clinem/dgab431. J Clin Endocrinol Metab. 2021. PMID: 34125233 Free PMC article.
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: robbins km. 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.
31 results