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Page 1
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
Azab B, Dardas Z, Aburizeg D, Al-Bdour M, Abu-Ameerh M, Saleh T, Barham R, Maswadi R, Ababneh NA, Alsalem M, Zouk H, Amr S, Awidi A. Azab B, et al. Among authors: dardas z. Genes (Basel). 2021 Apr 19;12(4):593. doi: 10.3390/genes12040593. Genes (Basel). 2021. PMID: 33921607 Free PMC article.
Enteric anendocrinosis attributable to a novel Neurogenin-3 variant.
Azab B, Dardas Z, Rabab'h O, Srour L, Telfah H, Hatmal MM, Mustafa L, Rashdan L, Altamimi E. Azab B, et al. Among authors: dardas z. Eur J Med Genet. 2020 Sep;63(9):103981. doi: 10.1016/j.ejmg.2020.103981. Epub 2020 Jun 20. Eur J Med Genet. 2020. PMID: 32574610
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Chander V, Mahmoud M, Hu J, Dardas Z, Grochowski CM, Dawood M, Khayat MM, Li H, Li S, Jhangiani S, Korchina V, Shen H, Weissenberger G, Meng Q, Gingras MC, Muzny DM, Doddapaneni H, Posey JE, Lupski JR, Sabo A, Murdock DR, Sedlazeck FJ, Gibbs RA. Chander V, et al. Among authors: dardas z. Hum Mutat. 2022 Dec;43(12):2033-2053. doi: 10.1002/humu.24461. Epub 2022 Sep 24. Hum Mutat. 2022. PMID: 36054313 Free PMC article.
21 results