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Author/Creator Hull, Sarah

1. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Issue 1 (7th November 2013)

Authors:
Onoufriadis, Alexandros; Shoemark, Amelia; Munye, Mustafa M; James, Chela T; Schmidts, Miriam; Patel, Mitali; Rosser, Elisabeth M; Bacchelli, Chiara; Beales, Philip L; Scambler, Peter J; Hart, Stephen L; Danke-Roelse, Jeannette E; Sloper, John J; Hull, Sarah; Hogg, Claire; Emes, Richard D; Pals, ...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 1(2014)
Page Start:
61
Record Type:
Journal Article
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2. Corneal Wound Healing Effects of Mesenchymal Stem Cell Secretome Delivered Within a Viscoelastic Gel Carrier. (15th January 2019)

Authors:
Fernandes‐Cunha, Gabriella Maria; Na, Kyung‐Sun; Putra, Ilham; Lee, Hyun Jong; Hull, Sarah; Cheng, Yu‐Chia; Blanco, Ignacio Jesus; Eslani, Medi; Djalilian, Ali R.; Myung, David
Journal:
Stem cells translational medicine
Issue:
Volume 8:Number 5(2019)
Page Start:
478
Record Type:
Journal Article
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3. Corneal Wound Healing Effects of Mesenchymal Stem Cell Secretome Delivered Within a Viscoelastic Gel Carrier. (15th January 2019)

Authors:
Fernandes-Cunha, Gabriella Maria; Na, Kyung-Sun; Putra, Ilham; Lee, Hyun Jong; Hull, Sarah; Cheng, Yu-Chia; Blanco, Ignacio Jesus; Eslani, Medi; Djalilian, Ali R.; Myung, David
Journal:
Stem cells translational medicine
Issue:
Volume 8:Number 5(2019)
Page Start:
478
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Delineating the expanding phenotype associated with SCAPER gene mutation. Issue 8 (13th June 2019)

Authors:
Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J.; Hull, Sarah; Lane, Amelia; Robson, Anthony G.; Wenger, Olivia; Self, Jay E.; Harlalka, Gaurav V.; Salter, Claire G.; Schema, Lynn; Moss, Timothy J.; Cheetham, Michael E.; Moore, Anthony T.; Raymond, F. Lucy; Chen, Rui; Baple, ...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 8(2019)
Page Start:
1665
Record Type:
Journal Article
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7. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. Issue 9 (25th April 2017)

Authors:
Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webst...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 9(2017)
Page Start:
624
Record Type:
Journal Article
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8. Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy. Issue 3 (28th August 2020)

Authors:
Hull, Sarah; Kiray, Gulunay; Chiang, John Pei‐Wen; Vincent, Andrea L.
Other Names:
Hufnagel Robert guestEditor.; Walter Michael guestEditor.; Arno Gavin guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 3(2020)
Page Start:
708
Record Type:
Journal Article
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9. Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes. Issue 2 (5th December 2014)

Authors:
Hufnagel, Robert B; Arno, Gavin; Hein, Nichole D; Hersheson, Joshua; Prasad, Megana; Anderson, Yvonne; Krueger, Laura A; Gregory, Louise C; Stoetzel, Corinne; Jaworek, Thomas J; Hull, Sarah; Li, Abi; Plagnol, Vincent; Willen, Christi M; Morgan, Thomas M; Prows, Cynthia A; Hegde, Rashmi S; Riazudd...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 2(2015)
Page Start:
85
Record Type:
Journal Article
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