Huq AJ - Search Results

1

Genetic testing in dementia-A medical genetics perspective.

Huq AJ, Sexton A, Lacaze P, Masters CL, Storey E, Velakoulis D, James PA, Winship IM. Huq AJ, et al. Int J Geriatr Psychiatry. 2021 Aug;36(8):1158-1170. doi: 10.1002/gps.5535. Epub 2021 Mar 28. Int J Geriatr Psychiatry. 2021. PMID: 33779003 Review.

2

Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review.

Huq A, Kentwell M, Tirimacco A, Rossini J, Rawlings L, Winship I. Huq A, et al. Fam Cancer. 2015 Mar;14(1):157-60. doi: 10.1007/s10689-014-9763-y. Fam Cancer. 2015. PMID: 25362541 Review.

3

A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation.

Huq AJ, Pertile MD, Davis AM, Landon H, James PA, Kline CF, Vohra J, Mohler PJ, Delatycki MB. Huq AJ, et al. Heart Lung Circ. 2017 Jun;26(6):612-618. doi: 10.1016/j.hlc.2016.09.013. Epub 2016 Nov 16. Heart Lung Circ. 2017. PMID: 27916589 Free PMC article. Clinical Trial.

4

Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.

Huq AJ, Bogwitz M, Gorelik A, Winship IM, White SM, Trainer AH. Huq AJ, et al. Intern Med J. 2017 Jun;47(6):664-673. doi: 10.1111/imj.13429. Intern Med J. 2017. PMID: 28328109

5

Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same.

Huq AJ, Walsh M, Rajagopalan B, Finlay M, Trainer AH, Bonnet F, Sevenet N, Winship IM. Huq AJ, et al. Fam Cancer. 2018 Oct;17(4):601-606. doi: 10.1007/s10689-018-0073-7. Fam Cancer. 2018. PMID: 29356994

6

APRT deficiency: the need for early diagnosis.

Huq A, Nand K, Juneja R, Winship I. Huq A, et al. BMJ Case Rep. 2018 Oct 23;2018:bcr2018225742. doi: 10.1136/bcr-2018-225742. BMJ Case Rep. 2018. PMID: 30355577 Free PMC article.

7

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.

Zhang L, Bao Y, Riaz M, Tiller J, Liew D, Zhuang X, Amor DJ, Huq A, Petelin L, Nelson M, James PA, Winship I, McNeil JJ, Lacaze P. Zhang L, et al. Genet Med. 2019 Sep;21(9):1958-1968. doi: 10.1038/s41436-019-0457-6. Epub 2019 Feb 18. Genet Med. 2019. PMID: 30773532 Free PMC article.

8

Correction: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.

Zhang L, Bao Y, Riaz M, Tiller J, Liew D, Zhuang X, Amor DJ, Huq A, Petelin L, Nelson M, James PA, Winship I, McNeil JJ, Lacaze P. Zhang L, et al. Genet Med. 2019 Sep;21(9):2162-2163. doi: 10.1038/s41436-019-0515-0. Genet Med. 2019. PMID: 30944416 Free PMC article.

9

Genetic resilience to Alzheimer's disease in APOE ε4 homozygotes: A systematic review.

Huq AJ, Fransquet P, Laws SM, Ryan J, Sebra R, Masters CL, Winship IM, James PA, Lacaze P. Huq AJ, et al. Alzheimers Dement. 2019 Dec;15(12):1612-1623. doi: 10.1016/j.jalz.2019.05.011. Epub 2019 Sep 7. Alzheimers Dement. 2019. PMID: 31506248

10

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

Eratne D, Schneider A, Lynch E, Martyn M, Velakoulis D, Fahey M, Kwan P, Leventer R, Rafehi H, Chong B, Stark Z, Lunke S, Phelan DG, O'Keefe M, Siemering K, West K, Sexton A, Jarmolowicz A, Taylor JA, Schultz J, Purvis R, Uebergang E, Chalinor H, Creighton B, Gelfand N, Saks T, Prawer Y, Smagarinsky Y, Pan T, Goranitis I, Ademi Z, Gaff C, Huq A, Walsh M, James PA, Krzesinski EI, Wallis M, Stutterd CA, Bahlo M, Delatycki MB, Berkovic SF. Eratne D, et al. J Neurol Sci. 2021 Jan 15;420:117260. doi: 10.1016/j.jns.2020.117260. Epub 2020 Dec 3. J Neurol Sci. 2021. PMID: 33310205

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