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The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. Helbig I, et al. Among authors: liaquat k. Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632. Hum Mutat. 2018. PMID: 30311377 Free PMC article.
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ. Karbassi I, et al. Among authors: liaquat k. Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26467025 Free PMC article.
Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.
Steele NZ, Bright AR, Lee SE, Fong JC, Bonham LW, Karydas A, Karbassi ID, Pribadi M, Meservey MA, Gallen MC, Ramos EM, Liaquat K, Hoffman CC, Krasner MR, Dodge W, L Miller B, Coppola G, Rankin KP, Yokoyama JS, Higgins JJ. Steele NZ, et al. Among authors: liaquat k. Adv Genomics Genet. 2018;8:23-33. doi: 10.2147/AGG.S164047. Epub 2018 Oct 25. Adv Genomics Genet. 2018. PMID: 31031559 Free PMC article.
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD, Batish SD, Lupski JR, Higgins JJ. DiVincenzo C, et al. Among authors: liaquat k. Mol Genet Genomic Med. 2014 Nov;2(6):522-9. doi: 10.1002/mgg3.106. Epub 2014 Aug 21. Mol Genet Genomic Med. 2014. PMID: 25614874 Free PMC article.
Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.
Vasale J, Boyar F, Jocson M, Sulcova V, Chan P, Liaquat K, Hoffman C, Meservey M, Chang I, Tsao D, Hensley K, Liu Y, Owen R, Braastad C, Sun W, Walrafen P, Komatsu J, Wang JC, Bensimon A, Anguiano A, Jaremko M, Wang Z, Batish S, Strom C, Higgins J. Vasale J, et al. Among authors: liaquat k. Neuromuscul Disord. 2015 Dec;25(12):945-51. doi: 10.1016/j.nmd.2015.08.008. Epub 2015 Aug 21. Neuromuscul Disord. 2015. PMID: 26420234
Abandoning the word Caucasian.
Tschirgi ML, Liaquat K, Mahey Kumar M, Wilson KL. Tschirgi ML, et al. Among authors: liaquat k. J Genet Couns. 2023 Oct;32(5):930-936. doi: 10.1002/jgc4.1730. Epub 2023 May 26. J Genet Couns. 2023. PMID: 37237433
Newborn weight change and predictors of underweight in the neonatal period in Guinea-Bissau, Nepal, Pakistan and Uganda.
Flaherman VJ, Ginsburg AS, Nankabirwa V, Braima da Sa A, Medel-Herrero A, Schaefer E, Dongol S, Shrestha A, Nisar I, Altaf M, Liaquat K, Baloch B, Rahman N, Shafiq Y, Ariff S, Jehan F, Roberts SB. Flaherman VJ, et al. Among authors: liaquat k. Matern Child Nutr. 2022 Oct;18(4):e13396. doi: 10.1111/mcn.13396. Epub 2022 Jul 12. Matern Child Nutr. 2022. PMID: 35821647 Free PMC article.