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CDC-Authored Genomics and Precision Health Publications Database|Home|PHGKB

CDC-Authored Genomics and Precision Health Publications Database


Rare Diseases

Last data update: Mar 31, 2023. (Total: 4252 publications since 2011)
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Records 1-6 (of 6 Records)
Query Trace: Fragile X Syndrome[original query]
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
Lu Meng, Walter E Kaufmann, Richard E Frye, Katherine Ong, Jennifer W Kaminski, Milen Velinov, and Elizabeth Berry-Kravis
American journal of medical genetics. Part A 2022 188(3) 858-866
Preventive care services and health behaviors in children with fragile X syndrome.
Kendra E Gilbertson, Hannah L Jackson, Eric J Dziuban, Stephanie L Sherman, Elizabeth M Berry-Kravis, Craig A Erickson, and Rodolfo Valdez
Disability and health journal 2019 May
FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.
Stephanie L Sherman, Sharon A Kidd, Catharine Riley, Elizabeth Berry-Kravis, Howard F Andrews, Robert M Miller, Sharyn Lincoln, Mark Swanson, Walter E Kaufmann, and W Ted Brown
Pediatrics 2017 Jun 139(Suppl 3) S183-S193
Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.
Walter E Kaufmann, Sharon A Kidd, Howard F Andrews, Dejan B Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L Sherman, W Ted Brown, and Elizabeth Berry-Kravis
Pediatrics 2017 Jun 139(Suppl 3) S194-S206
Fragile X Syndrome: Scientific Background and Screening Technologies.
Justine I Lyons, Gregory R Kerr, and Patricia W Mueller
J Mol Diagn 2015 Jul 7.
Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009).
Karen E Weck, Barbara Zehnbauer, Michael Datto, Iris Schrijver, and
Genet. Med. 2012 Mar 14(3) 306-12
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