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Page 1
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Abbasi AA, Blaesius K, Hu H, Latif Z, Picker-Minh S, Khan MN, Farooq S, Khan MA, Kaindl AM. Abbasi AA, et al. Among authors: picker minh s. Am J Med Genet B Neuropsychiatr Genet. 2017 Dec;174(8):839-845. doi: 10.1002/ajmg.b.32602. Epub 2017 Oct 14. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 29031008
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B, Luise-Becker L, Martins N, Picker-Minh S, Bessa P, Arts P, Jackson MR, Taranath A, Kamien B, Barnett C, Li N, Tarabykin V, Stoltenburg-Didinger G, Harel A, Selbach M, Dickmanns A, Fahrenkrog B, Hu H, Scott H, Kaindl AM. Ravindran E, et al. Among authors: picker minh s. Hum Mol Genet. 2021 Nov 1;30(22):2068-2081. doi: 10.1093/hmg/ddab160. Hum Mol Genet. 2021. PMID: 34170319 Free PMC article.
PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.
Picker-Minh S, Luperi I, Ravindran E, Kraemer N, Zaqout S, Stoltenburg-Didinger G, Ninnemann O, Hernandez-Miranda LR, Mani S, Kaindl AM. Picker-Minh S, et al. Cerebellum. 2023 Dec;22(6):1137-1151. doi: 10.1007/s12311-022-01488-z. Epub 2022 Oct 11. Cerebellum. 2023. PMID: 36219306 Free PMC article.
Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.
Blaesius K, Abbasi AA, Tahir TH, Tietze A, Picker-Minh S, Ali G, Farooq S, Hu H, Latif Z, Khan MN, Kaindl A. Blaesius K, et al. Among authors: picker minh s. Am J Med Genet A. 2018 Nov;176(11):2517-2521. doi: 10.1002/ajmg.a.38631. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289604 No abstract available.
Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: picker minh s. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.
Genetic causes of MCPH in consanguineous Pakistani families.
Kraemer N, Picker-Minh S, Abbasi AA, Fröhler S, Ninnemann O, Khan MN, Ali G, Chen W, Kaindl AM. Kraemer N, et al. Among authors: picker minh s. Clin Genet. 2016 Jun;89(6):744-5. doi: 10.1111/cge.12685. Epub 2015 Nov 8. Clin Genet. 2016. PMID: 26548919 No abstract available.
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