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Characterizing genetic variants for clinical action.
Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, Good P, Hubbard TJ, Jarvik GP, O'Donnell C, Sherry ST, Aronson N, Biesecker LG, Blumberg B, Calonge N, Colhoun HM, Epstein RS, Flicek P, Gordon ES, Green ED, Green RC, Hurles M, Kawamoto K, Knaus W, Ledbetter DH, Levy HP, Lyon E, Maglott D, McLeod HL, Rahman N, Randhawa G, Wicklund C, Manolio TA, Chisholm RL, Williams MS. Ramos EM, et al. Among authors: blumberg b. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):93-104. doi: 10.1002/ajmg.c.31386. Epub 2014 Mar 13. Am J Med Genet C Semin Med Genet. 2014. PMID: 24634402 Free PMC article.
Cystic fibrosis heterozygote screening in 5,161 pregnant women.
Witt DR, Schaefer C, Hallam P, Wi S, Blumberg B, Fishbach A, Holtzman J, Kornfeld S, Lee R, Nemzer L, Palmer R. Witt DR, et al. Among authors: blumberg b. Am J Hum Genet. 1996 Apr;58(4):823-35. Am J Hum Genet. 1996. PMID: 8644747 Free PMC article.
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.
Mullegama SV, Jensik P, Li C, Dorrani N; UCLA Clinical Genomics Center; Kantarci S, Blumberg B, Grody WW, Strom SP. Mullegama SV, et al. Among authors: blumberg b. Clin Case Rep. 2017 Apr 18;5(6):833-840. doi: 10.1002/ccr3.904. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588821 Free PMC article.
XX/XY chimerism encountered during prenatal diagnosis.
Freiberg AS, Blumberg B, Lawce H, Mann J. Freiberg AS, et al. Among authors: blumberg b. Prenat Diagn. 1988 Jul;8(6):423-6. doi: 10.1002/pd.1970080606. Prenat Diagn. 1988. PMID: 3211844
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L. Rojnueangnit K, et al. Among authors: blumberg b. Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21. Hum Mutat. 2015. PMID: 26178382 Free PMC article.
597 results