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Author/Creator Loucks, Hailey

1. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Issue 8 (25th June 2022)

Authors:
Penon‐Portmann, Monica; Eldomery, Mohammad K.; Potocki, Lorraine; Marafi, Dana; Posey, Jennifer E.; Coban‐Akdemir, Zeynep; Harel, Tamar; Grochowski, Christopher M.; Loucks, Hailey; Devine, Walter Patrick; Van Ziffle, Jessica; Doherty, Dan; Lupski, James R.; Shieh, Joseph T.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 8(2022)
Page Start:
2360
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. Issue 9 (21st October 2021)

Authors:
Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E;...
Other Names:
author non-byline.; Bamshad M J author non-byline.; Leal S M author non-byline.; Nickerson D A author non-byline.; Anderson P author non-byline.; Bacus T J author non-byline.; Blue E E author non-byline.; Brower K author non-byline.; Buckingham K J author non-byline.; Chong J X author non-byline...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
888
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗