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Page 1
Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.
Xie Z, Sun C, Zhang S, Liu Y, Yu M, Zheng Y, Meng L, Acharya A, Cornejo-Sanchez DM, Wang G, Zhang W, Schrauwen I, Leal SM, Wang Z, Yuan Y. Xie Z, et al. Among authors: schrauwen i. Ann Clin Transl Neurol. 2020 Oct;7(10):2041-2046. doi: 10.1002/acn3.51201. Epub 2020 Sep 20. Ann Clin Transl Neurol. 2020. PMID: 32951359 Free PMC article.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Siekierska A, et al. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM. Santos-Cortez RLP, et al. Among authors: schrauwen i. Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22. Hum Genet. 2018. PMID: 30167849 Free PMC article.
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. Among authors: schrauwen i. J Hum Genet. 2018 Nov;63(11):1099-1107. doi: 10.1038/s10038-018-0502-3. Epub 2018 Sep 3. J Hum Genet. 2018. PMID: 30177809 Free PMC article.
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM; University of Washington Center for Mendelian Genomics (UWCMG) Study Group. Latif Z, et al. Among authors: schrauwen i. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4552-4557. doi: 10.1167/iovs.18-23849. Invest Ophthalmol Vis Sci. 2018. PMID: 30208423 Free PMC article.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Richard EM, et al. Among authors: schrauwen i. Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18. Hum Mutat. 2019. PMID: 30303587 Free PMC article.
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. Schrauwen I, et al. J Bone Miner Res. 2019 Feb;34(2):375-386. doi: 10.1002/jbmr.3594. Epub 2018 Nov 5. J Bone Miner Res. 2019. PMID: 30395363 Free PMC article. Clinical Trial.
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Ahmad W, Leal SM. Liaqat K, et al. Among authors: schrauwen i. J Hum Genet. 2019 Feb;64(2):153-160. doi: 10.1038/s10038-018-0542-8. Epub 2018 Nov 30. J Hum Genet. 2019. PMID: 30498240 Free PMC article.
134 results