C
Cynthia C. Morton
Researcher at Brigham and Women's Hospital
Publications - 399
Citations - 33421
Cynthia C. Morton is an academic researcher from Brigham and Women's Hospital. The author has contributed to research in topics: Gene & Gene mapping. The author has an hindex of 94, co-authored 389 publications receiving 31324 citations. Previous affiliations of Cynthia C. Morton include Partners HealthCare & University of Iowa.
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Journal ArticleDOI
Replicating genotype–phenotype associations
Stephen J. Chanock,Teri A. Manolio,Michael Boehnke,Eric Boerwinkle,David J. Hunter,Gilles Thomas,Joel N. Hirschhorn,Gonçalo R. Abecasis,David Altshuler,Joan E. Bailey-Wilson,Lisa D. Brooks,Lon R. Cardon,Mark J. Daly,Peter Donnelly,Joseph F. Fraumeni,Nelson B. Freimer,Daniela S. Gerhard,Chris Gunter,Alan E. Guttmacher,Mark S. Guyer,Emily L. Harris,Josephine Hoh,Robert N. Hoover,C. Augustine Kong,Kathleen R. Merikangas,Cynthia C. Morton,Lyle J. Palmer,Elizabeth G. Phimister,John P. Rice,Jerry Roberts,Charles N. Rotimi,Margaret A. Tucker,Kyle Vogan,Sholom Wacholder,Ellen M. Wijsman,Deborah M. Winn,Francis S. Collins +36 more
TL;DR: What constitutes replication of a genotype–phenotype association, and how best can it be achieved, is investigated.
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Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells
Rebecca Taub,Ilan R. Kirsch,Cynthia C. Morton,Gilbert M. Lenoir,D. Swan,Steven R. Tronick,Stuart A. Aaronson,Philip Leder +7 more
TL;DR: It is shown that transformation of human Burkitt lymphomas and murine plasmacytomas is frequently accompanied by the somatic rearrangement of a cellular analogue of an avian retrovirus transforming gene, c-myc, which provides a molecular basis for considering the role that specific translocations might play in malignant transformation.
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Newborn Hearing Screening — A Silent Revolution
TL;DR: The implementation of universal screening programs to detect hearing defects in newborns has dramatically increased the identification of hearing loss in infants, and further improvement in these programs can readily be achieved.
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Derivation of embryonic stem-cell lines from human blastocysts.
Chad A. Cowan,Irinha Klimanskaya,Jill A. McMahon,Jocelyn Atienza,Jeannine Witmyer,Jacob P. Zucker,Shunping Wang,Cynthia C. Morton,Andrew P. McMahon,Doug Powers,Douglas A. Melton +10 more
TL;DR: The procedures used to develop 17 lines of human embryonic stem cells from the inner cell masses of blastocysts are discussed.
Journal ArticleDOI
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
Fiona E. Karet,Karin E. Finberg,Raoul D. Nelson,Ahmet Nayir,H Mocan,Sami A. Sanjad,Juan Rodriguez-Soriano,Fernando Santos,Cwrj Cremers,A. di Pietro,BI Hoffbrand,J Winiarski,Aysin Bakkaloglu,Seza Ozen,Ruhan Düşünsel,P Goodyer,Sally A. Hulton,Doris K. Wu,Anne B. Skvorak,Cynthia C. Morton,Michael J. Cunningham,[No Value] Jha,Richard P. Lifton +22 more
TL;DR: It is demonstrated that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by impaired renal acid secretion resulting in metabolic acidosis.