PMC Articles for MedGen (Select 1627111) - PMC

Select item 75365751.

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche, Ann Katherine M. Foreman, Julianne M. O’Daniel, Bryce A. Seifert, Kristy Lee, Alicia Brandt, Chelsea Gustafson, Daniela M. DeCristo, Natasha T. Strande, Lori Ramkissoon, Laura V. Milko, Phillips Owen, Sayanty Roy, Mai Xiong, Ryan S. Paquin, Rita M. Butterfield, Megan A. Lewis, Katherine J. Souris, Donald B. Bailey, Jr., Christine Rini, Jessica K. Booker, Bradford C. Powell, Karen E. Weck, Cynthia M. Powell, Jonathan S. Berg

Am J Hum Genet. 2020 Oct 1; 107(4): 596–611. Published online 2020 Aug 26. doi: 10.1016/j.ajhg.2020.08.001

PMCID:: PMC7536575

Abstract Article PDF–547K

Select item 66251312.

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorifar

Mol Genet Genomic Med. 2019 Jul; 7(7): e00780. Published online 2019 Jun 4. doi: 10.1002/mgg3.780

PMCID:: PMC6625131

Abstract Article PDF–734K

Select item 44638513.

The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals

Shasha Huang, Bangqing Huang, Guojian Wang, Yongyi Yuan, Pu Dai

PLoS One. 2015; 10(6): e0129662. Published online 2015 Jun 10. doi: 10.1371/journal.pone.0129662

PMCID:: PMC4463851

Abstract Article PDF–642K

Select item 31363834.

Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3

Ghazanfar Ali, Kwanghyuk Lee, Paula B. Andrade, Sulman Basit, Regie Lyn P. Santos-Cortez, Leon Chen, Musharraf Jelani, Muhammad Ansar, Wasim Ahmad, Suzanne M. Leal

Hum Hered. 2011 Jul; 71(2): 106–112. Published online 2011 Jul 6. doi: 10.1159/000320154

PMCID:: PMC3136383

Abstract Article PDF–131K

Select item 27009945.

ATP8B1 is essential for maintaining normal hearing

Janneke M. Stapelbroek, Theo A. Peters, Denis H. A. van Beurden, Jo H. A. J. Curfs, Anneke Joosten, Andy J. Beynon, Bibian M. van Leeuwen, Lieke M. van der Velden, Laura Bull, Ronald P. Oude Elferink, Bert A. van Zanten, Leo W. J. Klomp, Roderick H. J. Houwen

Proc Natl Acad Sci U S A. 2009 Jun 16; 106(24): 9709–9714. Published online 2009 May 28. doi: 10.1073/pnas.0807919106

PMCID:: PMC2700994

Abstract Article PDF–1.3M

Select item 26120906.

Human adenylate kinase 2 deficiency causes a profound haematopoietic defect associated with sensorineural deafness

Chantal Lagresle-Peyrou, Emmanuelle M. Six, Capucine Picard, Frédéric Rieux-Laucat, Vincent Michel, Andrea Ditadi, Corinne Demerens-de Chappedelaine, Estelle Morillon, Françoise Valensi, Karen L. Simon-Stoos, James C. Mullikin, Lenora M. Noroski, Céline Besse, Nicolas M. Wulffraat, Alina Ferster, Manuel M. Abecasis, Fabien Calvo, Christine Petit, Fabio Candotti, Laurent Abel, Alain Fischer, Marina Cavazzana-Calvo

Nat Genet. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: Nat Genet. 2009 Jan; 41(1): 106–111. Published online 2008 Nov 30. doi: 10.1038/ng.278

PMCID:: PMC2612090

Abstract Article PDF–2.3M

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