Research output per year
Research output per year
Search results
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2019
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family
Sher, M., Farooq, M., Abdullah, U., Ali, Z., Faryal, S., Zakaria, M., Ullah, F., Bukhari, H., Møller, R. S., Tommerup, N. & Baig, S. M., 2 Sept 2019, In: International Journal of Neuroscience. p. 890-895 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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2017
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
Abdullah, U., Farooq, M., Mang, Y., Marriam Bakhtiar, S., Fatima, A., Hansen, L., Kjaer, K. W., Larsen, L. A., Faryal, S., Tommerup, N. & Mahmood Baig, S., Dec 2017, In: European Journal of Medical Genetics. 60, 12, p. 627-630 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population
Fatima, A., Farooq, M., Abdullah, U., Tariq, M., Mustafa, T., Iqbal, M., Tommerup, N. & Mahmood Baig, S., Sept 2017, In: Psychiatry Investigation. 14, 5, p. 687-692 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis
Abdullah, U., Farooq, M., Fatima, A., Tauseef, W., Sarwar, Y., Nuri, M., Tommerup, N. & Baig, S. M., Oct 2017, In: Nephrology. 22, 10, p. 818-820 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis
Andersen, M. R., Farooq, M., Rasmussen, K. K., Kjaer, K. W., Simony, A., Christensen, S. T. & Larsen, L. A., 15 Jun 2017, In: Spine. 42, 12, p. E702–E707 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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2016
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family
Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer, K. W., Baig, S. M., Larsen, L. A. & Tommerup, N., 1 Mar 2016, In: Journal of Human Genetics. 61, 3, p. 271-273 3 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies
Møller, R. S., Larsen, L. H. G., Johannesen, K. M., Talvik, I., Talvik, T., Vaher, U., Miranda, M. J., Farooq, M., Nielsen, J. E. K., Svendsen, L. L., Kjelgaard, D. B., Linnet, K. M., Hao, Q., Uldall, P., Frangu, M., Tommerup, N., Baig, S. M., Abdullah, U., Born, A. P., Gellert, P., & 12 others, 1 Sept 2016, In: Molecular Syndromology. 7, 4, p. 210-219 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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2014
Microduplications encompassing the Sonic Hedgehog Limb Enhancer ZRS are Associated with Haas Type Polysyndactyly and Laurin-Sandrow Syndrome
Lohan, S., Spielmann, M., Doelken, S. C., Flöttmann, R., Farooq, M., Baig, S. M., Wajid, M., Hülsemann, W., Habenicht, R., Kjaer, K. W., Patil, S. J., Girisha, K. M., Abarca-Barriga, H. H., Mundlos, S. & Klopocki, E., Oct 2014, In: Clinical Genetics. 86, 4, p. 318-325 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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2013
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family
Farooq, M., Nakai, H., Fujimoto, A., Fujikawa, H., Kjaer, K. W., Baig, S. M. & Shimomura, Y., Nov 2013, In: Human Genetics. 132, 11, p. 1253-1264 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Genetic heterogeneity in Pakistani microcephaly families
Sajid Hussain, M., Bakhtiar, S. M., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, H., Kjaer, K. W., Tommerup, N., Noegel, A. A., Nürnberg, P., Baig, S. M. & Hansen, L., May 2013, In: Clinical Genetics. 83, 5, p. 446-51 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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2010
Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1
Farooq, M., Baig, S., Tommerup, N. & Kjaer, K. W., Feb 2010, In: American Journal of Medical Genetics. Part A. 152A, 2, p. 495-7 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
Farooq, M., Troelsen, J. T., Boyd, M., Eiberg, H., Hansen, L., Hussain, M. S., Rehman, S. U., Azhar, A., Ali, A., Bakhtiar, S. M., Tommerup, N., Baig, S. M. & Kjaer, K. W., Jun 2010, In: European Journal of Human Genetics. 18, 6, p. 733-6 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
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2009
Compound heterozygous ASPM mutations in Pakistani MCPH families
Muhammad, F., Mahmood Baig, S., Hansen, L., Sajid Hussain, M., Anjum Inayat, I., Aslam, M., Anver Qureshi, J., Toilat, M., Kirst, E., Wajid, M., Nürnberg, P., Eiberg, H., Tommerup, N. & Kjaer, K. W., 2009, In: American Journal of Medical Genetics. Part A. 149A, 5, p. 926-30 4 p.Research output: Contribution to journal › Journal article › Research › peer-review