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Author/Creator Worgan, Lisa

1. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Issue 8 (2nd June 2017)

Authors:
Gold, Wendy A.; Sobreira, Nara; Wiame, Elsa; Marbaix, Alexandre; Van Schaftingen, Emile; Franzka, Patricia; Riley, Lisa G.; Worgan, Lisa; Hübner, Christian A.; Christodoulou, John; Adès, Lesley C.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 8(2017)
Page Start:
2246
Record Type:
Journal Article
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2. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019)

Authors:
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ...
Other Names:
investigator.
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
449
Record Type:
Journal Article
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3. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019)

Authors:
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Piatek, Stefan G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ...
Other Names:
investigator.
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
449
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. Issue 1 (21st October 2015)

Authors:
Slaats, Gisela G; Isabella, Christine R; Kroes, Hester Y; Dempsey, Jennifer C; Gremmels, Hendrik; Monroe, Glen R; Phelps, Ian G; Duran, Karen J; Adkins, Jonathan; Kumar, Sairam A; Knutzen, Dana M; Knoers, Nine V; Mendelsohn, Nancy J; Neubauer, David; Mastroyianni, Sotiria D; Vogt, Julie; Worgan, ...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 1(2016)
Page Start:
62
Record Type:
Journal Article
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5. User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia. Issue 2 (14th December 2018)

Authors:
Josephi‐Taylor, Sarah; Barlow‐Stewart, Kristine; Selvanathan, Arthavan; Roscioli, Tony; Bittles, Alan; Meiser, Bettina; Worgan, Lisa; Rajagopalan, Sulekha; Colley, Alison; Kirk, Edwin P.
Journal:
Journal of genetic counseling
Issue:
Volume 28:Issue 2(2019)
Page Start:
240
Record Type:
Journal Article
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6. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. (December 2018)

Authors:
Ewans, Lisa; Schofield, Deborah; Shrestha, Rupendra; Zhu, Ying; Gayevskiy, Velimir; Ying, Kevin; Walsh, Corrina; Lee, Eric; Kirk, Edwin; Colley, Alison; Ellaway, Carolyn; Turner, Anne; Mowat, David; Worgan, Lisa; Freckmann, Mary-Louise; Lipke, Michelle; Sachdev, Rani; Miller, David; Field, Michae...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 12(2018)
Page Start:
1564
Record Type:
Journal Article
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