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Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin CE, Collins RL, Blumenthal I, Hanscom C, Pereira S, Bradley I, Crandall BF, Gerrol P, Hayden MA, Hussain N, Kanengisser-Pines B, Kantarci S, Levy B, Macera MJ, Quintero-Rivera F, Spiegel E, Stevens B, Ulm JE, Warburton D, Wilkins-Haug LE, Yachelevich N, Gusella JF, Talkowski ME, Morton CC. Ordulu Z, et al. Among authors: crandall bf. Am J Hum Genet. 2016 Nov 3;99(5):1015-1033. doi: 10.1016/j.ajhg.2016.08.022. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745839 Free PMC article.
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.
Datkhaeva I, Arboleda VA, Senaratne TN, Nikpour G, Meyerson C, Geng Y, Afshar Y, Scibetta E, Goldstein J, Quintero-Rivera F, Crandall BF, Grody WW, Deignan J, Janzen C. Datkhaeva I, et al. Among authors: crandall bf. Am J Med Genet A. 2018 Dec;176(12):2829-2834. doi: 10.1002/ajmg.a.40533. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244526 Review.
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE. Jamuar SS, et al. Am J Med Genet A. 2015 Jun;167(6):1400-5. doi: 10.1002/ajmg.a.36848. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25846266 No abstract available.
Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.
Estabrooks LL, Rao KW, Driscoll DA, Crandall BF, Dean JC, Ikonen E, Korf B, Aylsworth AS. Estabrooks LL, et al. Among authors: crandall bf. Am J Med Genet. 1995 Jul 17;57(4):581-6. doi: 10.1002/ajmg.1320570413. Am J Med Genet. 1995. PMID: 7573133
Infant hearing loss and connexin testing in a diverse population.
Schimmenti LA, Martinez A, Telatar M, Lai CH, Shapiro N, Fox M, Warman B, McCarra M, Crandall B, Sininger Y, Grody WW, Palmer CG. Schimmenti LA, et al. Genet Med. 2008 Jul;10(7):517-24. doi: 10.1097/gim.0b013e31817708fa. Genet Med. 2008. PMID: 18580690
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr. Conway RL, et al. Am J Med Genet A. 2007 Dec 15;143A(24):2981-3008. doi: 10.1002/ajmg.a.32040. Am J Med Genet A. 2007. PMID: 18000912 Free PMC article.
113 results