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Author/Creator Morgan, Tim

2. A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer. Issue 4 (2nd October 2018)

Authors:
McKeown, Colina; Connors, Samantha; Stapleton, Rachel; Morgan, Tim; Hayes, Ian; Neas, Katherine; Dixon, Joanne; Gibson, Kate; Markie, David M.; Tsai, Peter; Blenkiron, Cherie; Fitzgerald, Sandra; Shields, Paula; Yap, Patrick; Lawrence, Ben; Print, Cristin; Robertson, Stephen P.
Journal:
Journal of the Royal Society of New Zealand
Issue:
Volume 48:Issue 4(2018)
Page Start:
262
Record Type:
Journal Article
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3. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Issue 7 (12th May 2017)

Authors:
Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Adés, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae‐Joon; de Geus, Christa M.; Duba, Hans‐Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Mo...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1739
Record Type:
Journal Article
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5. Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley–Bixler syndromes. Issue 10 (13th July 2016)

Authors:
Morton, Jenny E. V.; Frentz, Sophia; Morgan, Tim; Sutherland‐Smith, Andrew J.; Robertson, Stephen P.
Other Names:
Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 10(2016)
Page Start:
2706
Record Type:
Journal Article
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6. Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss‐of‐function filaminopathies. Issue 1 (2nd November 2017)

Authors:
Jenkins, Zandra A; Macharg, Alison; Chang, Cheng‐Yee; van Kogelenberg, Margriet; Morgan, Tim; Frentz, Sophia; Wei, Wenhua; Pilch, Jacek; Hannibal, Mark; Foulds, Nicola; McGillivray, George; Leventer, Richard J; García‐Miñaúr, Sixto; Sugito, Stuart; Nightingale, Scott; Markie, David M; Dudding, Tr...
Journal:
Human mutation
Issue:
Volume 39:Issue 1(2018)
Page Start:
103
Record Type:
Journal Article
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7. Effect of Intensive Blood Pressure Reduction on Left Ventricular Mass, Structure, Function, and Fibrosis in the SPRINT-HEART. Issue 2 (August 2019)

Authors:
Upadhya, Bharathi; Rocco, Michael V.; Pajewski, Nicholas M.; Morgan, Tim; Blackshear, Joseph; Hundley, William Greg; Oparil, Suzanne; Soliman, Elsayed Z.; Cohen, Debbie L.; Hamilton, Craig A.; Cho, Monique E.; Kostis, William J; Papademetriou, Vasilios; Rodriguez, Carlos J.; Raj, Dominic S.; Town...
Journal:
Hypertension
Issue:
Volume 74:Issue 2(2019)
Page Start:
Record Type:
Journal Article
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8. Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. Issue 12 (17th July 2021)

Authors:
Wade, Emma M.; Jenkins, Zandra A.; Morgan, Tim; Gimenez, Gregory; Gibson, Hayley; Peng, Hui; Sanchez Russo, Rossana; Skraban, Cara M.; Bedoukian, Emma; Robertson, Stephen P.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 12(2021)
Page Start:
3675
Record Type:
Journal Article
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10. Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases. Issue 10 (6th July 2017)

Authors:
Bernkopf, Marie; Hunt, David; Koelling, Nils; Morgan, Tim; Collins, Amanda L.; Fairhurst, Joanna; Robertson, Stephen P.; Douglas, Andrew G. L.; Goriely, Anne
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
1360
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗