Whelan J - Search Results

1

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.

Green JS, O'Rielly DD, Pater JA, Houston J, Rajabi H, Galutira D, Benteau T, Sheaves A, Abdelfatah N, Bautista D, Whelan J, Young TL. Green JS, et al. Among authors: whelan j. Eur J Hum Genet. 2020 Jul;28(7):925-937. doi: 10.1038/s41431-020-0581-4. Epub 2020 May 28. Eur J Hum Genet. 2020. PMID: 32467599 Free PMC article.

2

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N. Eichers ER, et al. Among authors: whelan j. Am J Hum Genet. 2002 Apr;70(4):955-64. doi: 10.1086/339688. Epub 2002 Feb 26. Am J Hum Genet. 2002. PMID: 11868161 Free PMC article.

3

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.

Schrader KA, Heravi-Moussavi A, Waters PJ, Senz J, Whelan J, Ha G, Eydoux P, Nielsen T, Gallagher B, Oloumi A, Boyd N, Fernandez BA, Young TL, Jones SJ, Hirst M, Shah SP, Marra MA, Green J, Huntsman DG. Schrader KA, et al. Among authors: whelan j. J Pathol. 2011 Sep;225(1):12-8. doi: 10.1002/path.2941. J Pathol. 2011. PMID: 21792934

4

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.

Evans DR, Green JS, Fahiminiya S, Majewski J, Fernandez BA, Deardorff MA, Johnson GJ, Whelan JH, Hubmacher D, Apte SS; Care4Rare Canada Consortium; Woods MO. Evans DR, et al. Among authors: whelan jh. Sci Rep. 2020 Jul 2;10(1):10827. doi: 10.1038/s41598-020-66978-8. Sci Rep. 2020. PMID: 32616716 Free PMC article.

5

Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study.

Burstedt M, Whelan JH, Green JS, Holopigian K, Spera C, Greco E, Deslandes JY, Wald M, Grosskreutz C, Ni X, Normand G, Maker M, Charil A, Rosol M, He Y, Stasi K. Burstedt M, et al. Invest Ophthalmol Vis Sci. 2023 Oct 3;64(13):42. doi: 10.1167/iovs.64.13.42. Invest Ophthalmol Vis Sci. 2023. PMID: 37883093 Free PMC article.

6

Patient-Reported Outcomes in RLBP1 Retinal Dystrophy: Longitudinal Assessment in a Prospective Natural History Study.

Whelan J, Green J, Burstedt M, Greco E, Ni X, Spera C, Mullins A, Deslandes JY, Su Z, Wald M, Grosskreutz CL, Normand G, Charil A, Lu D, Stasi K, Holopigian K. Whelan J, et al. Transl Vis Sci Technol. 2024 Nov 4;13(11):16. doi: 10.1167/tvst.13.11.16. Transl Vis Sci Technol. 2024. PMID: 39541109 Free PMC article.

7

Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP).

Green J, Tolley C, Bentley S, Arbuckle R, Burstedt M, Whelan J, Holopigian K, Stasi K, Sloesen B, Spera C, Deslandes JY, Mullins A. Green J, et al. Among authors: whelan j. Adv Ther. 2020 Jun;37(6):2884-2901. doi: 10.1007/s12325-020-01275-4. Epub 2020 May 5. Adv Ther. 2020. PMID: 32372289 Free PMC article.

8

CRISPR/Cas9-mediated mutagenesis of SEED FATTY ACID REDUCER genes significantly increased seed oil content in soybean.

Liao W, Guo R, Li J, Liu N, Jiang L, Whelan J, Shou H. Liao W, et al. Among authors: whelan j. Plant Cell Physiol. 2024 Dec 21:pcae148. doi: 10.1093/pcp/pcae148. Online ahead of print. Plant Cell Physiol. 2024. PMID: 39707619

9

Strugnell C, Gaskin CJ, Becker D, Orellana L, Jackson M, Hillenaar M, Whelan J, Brown AD, Brown V, Bell C, Hayward J, Stephens LD, Jensen H, Gribben I, Coller L, Tatlock D, Lehman E, Allender S. Strugnell C, et al. Among authors: whelan j. Pediatr Obes. 2024 Dec 18:e13195. doi: 10.1111/ijpo.13195. Online ahead of print. Pediatr Obes. 2024. PMID: 39694877

10

Involving Knowledge Users in Health Services Research: Collective Reflections and Learning From a National Evaluation of Recurrent Miscarriage Services.

Hennessy M, Dennehy R, O'Leary H, O'Donoghue K; RE:CURRENT Research Advisory Group. Hennessy M, et al. Health Expect. 2024 Dec;27(6):e70125. doi: 10.1111/hex.70125. Health Expect. 2024. PMID: 39682042 Free PMC article.

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