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Author/Creator McLaughlin, Heather M.

1. A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo. Issue 1 (11th October 2012)

Authors:
Vester, Aimée; Velez‐Ruiz, Gisselle; McLaughlin, Heather M.; NISC Comparative Sequencing Program, ; Lupski, James R.; Talbot, Kevin; Vance, Jeffery M.; Züchner, Stephan; Roda, Ricardo H.; Fischbeck, Kenneth H.; Biesecker, Leslie G.; Nicholson, Garth; Beg, Asim A.; Antonellis, Anthony
Journal:
Human mutation
Issue:
Volume 34:Issue 1(2013:Jan.)
Page Start:
191
Record Type:
Journal Article
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2. A Recurrent Loss‐of‐Function Alanyl‐tRNA Synthetase (AARS) Mutation in Patients with Charcot‐Marie‐Tooth Disease Type 2N (CMT2N). Issue 4 (18th February 2014)

Authors:
McLaughlin, Heather M.; Sakaguchi, Reiko; Giblin, William; Wilson, Thomas E.; Biesecker, Leslie; Lupski, James R.; Talbot, Kevin; Vance, Jeffery M.; Züchner, Stephan; Lee, Yi‐Chung; Kennerson, Marina; Hou, Ya‐Ming; Nicholson, Garth; Antonellis, Anthony
Journal:
Human mutation
Issue:
Volume 35:Issue 4(2014:Apr.)
Page Start:
512
Record Type:
Journal Article
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3. Syndromic neurodevelopmental disorder associated with de novo variants in DDX23. Issue 10 (29th May 2021)

Authors:
Burns, William; Bird, Lynne M.; Heron, Delphine; Keren, Boris; Ramachandra, Divya; Thiffault, Isabelle; Del Viso, Florencia; Amudhavalli, Shivarajan; Engleman, Kendra; Parenti, Ilaria; Kaiser, Frank J.; Wierzba, Jolanta; Riedhammer, Korbinian M.; Liptay, Susanne; Zadeh, Neda; Porrmann, Joseph; Fi...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 10(2021)
Page Start:
2863
Record Type:
Journal Article
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