Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.

Autor: Ilyas M; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan; Department of Medical Laboratory Technology, Riphah International University, Malakand Campus, Khyber Pakhtunkhwa, Pakistan., Tariq F; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Ishaq R; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Habiba U; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Bibi F; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Khan SN; Department of Medical Laboratory Technology, University of Haripur, Khyber Pakhtunkhwa, Pakistan., Ali Y; Institute of Chemistry, Solvak Academy of Sciences, 84538 Bratislava, Slovakia., Haider S; Wah Medical College, Izzat Ali Shah Hospital, Maternal and Child Health Centre, Wah Cantt, Pakistan., Efthymiou S; Department of Neuromuscular disorders, UCL Institute of Neurology, London., Abdullah U; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Raja GK; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan., Shaiq PA; University Institute of Biochemistry and Biotechnology, (PMAS) Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Pakistan. Electronic address: pakeezaarzoo@uaar.edu.pk.

Publikováno v: Epilepsy research [Epilepsy Res] 2024 Mar; Vol. 201, pp. 107283. Date of Electronic Publication: 2023 Dec 17.

Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families.

Autor: Ishaq R; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46300, Pakistan.; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 20742, USA., Ilyas M; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46300, Pakistan.; Department of Medical Laboratory Technology, Riphah International University, Malakand Campus, Malakand 23010, Pakistan., Habiba U; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46300, Pakistan., Amin MNU; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46300, Pakistan., Saeed S; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46300, Pakistan.; Department of Clinical Molecular Biology, EpiGen, Institute of Clinical Medicine, University of Oslo, 0313 Oslo, Norway., Raja GK; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46300, Pakistan., Shaiq PA; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46300, Pakistan., Ahmed ZM; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 20742, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 20742, USA.; Department of Ophthalmology and Visual Sciences, School of Medicine, University of Maryland, Baltimore, MD 20742, USA.

Publikováno v: Genes [Genes (Basel)] 2023 May 22; Vol. 14 (5). Date of Electronic Publication: 2023 May 22.

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.

Autor: Asif M; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Anayat M; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan., Tariq F; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan., Noureen T; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan., Din GNU; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan., Becker C; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Becker K; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Makhdoom EUH; Neurochemical Biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan., Shaiq PA; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan., Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan.; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi 74800, Pakistan.; Pakistan Science Foundation (PSF), Islamabad 44050, Pakistan., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Hussain MS; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany., Raja GK; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan., Abdullah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan.

Publikováno v: Genes [Genes (Basel)] 2022 Dec 23; Vol. 14 (1). Date of Electronic Publication: 2022 Dec 23.

Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide.

Autor: Stuart PE; Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA.; These authors contributed equally to this study., Tsoi LC; Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA.; Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.; Department of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor MI, USA.; These authors contributed equally to this study., Nair RP; Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA.; These authors contributed equally to this study., Ghosh M; Department of Pediatrics Genetics, All India Institute of Medical Sciences, New Delhi, India., Kabra M; Department of Pediatrics Genetics, All India Institute of Medical Sciences, New Delhi, India., Shaiq PA; Department of Biochemistry, PMASAA University, Rawalpindi, Pakistan., Raja GK; Department of Biochemistry, PMASAA University, Rawalpindi, Pakistan., Qamar R; COMSATS Institute of Information Technology, Islamabad, Pakistan., Thelma BK; Department of Genetics, University of Delhi South Campus, 110021 New Delhi, India., Patrick MT; Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA., Parihar A; Department of Dermatology, All India Institute of Medical Sciences, New Delhi, India., Singh S; Department of Dermatology, All India Institute of Medical Sciences, New Delhi, India., Khandpur S; Department of Dermatology, All India Institute of Medical Sciences, New Delhi, India., Kumar U; Department of Rheumatology, All India Institute of Medical Sciences, New Delhi, India., Wittig M; Institute of Clinical Molecular Biology, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel 24105, Germany., Degenhardt F; Institute of Clinical Molecular Biology, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel 24105, Germany., Tejasvi T; Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA.; Ann Arbor Veterans Affairs Hospital, Ann Arbor, MI, USA., Voorhees JJ; Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA., Weidinger S; Department of Dermatology, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel 24105, Germany., Franke A; Institute of Clinical Molecular Biology, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel 24105, Germany., Abecasis GR; Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., Sharma VK; Department of Dermatology, All India Institute of Medical Sciences, New Delhi, India., Elder JT; Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI, USA.; Ann Arbor Veterans Affairs Hospital, Ann Arbor, MI, USA.

Publikováno v: HGG advances [HGG Adv] 2022 Jan 13; Vol. 3 (1). Date of Electronic Publication: 2021 Nov 06.

A single SNP surrogate for genotyping HLA-C*06:02 in diverse populations.

Autor: Stuart PE; Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA., Tejasvi T; Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA; Ann Arbor Veterans Administration Hospital, Ann Arbor, Michigan, USA., Shaiq PA; Department of Biochemistry, PMASAA University, Rawalpindi, Pakistan., Kullavanijaya P; Institute of Dermatology, Bangkok, Thailand., Qamar R; COMSATS Institute of Information Technology, Islamabad, Pakistan; Al-Nafees Medical College and Hospital, Isra University, Islamabad, Pakistan., Raja GK; Department of Biochemistry, PMASAA University, Rawalpindi, Pakistan., Li Y; Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan, USA., Voorhees JJ; Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA., Abecasis GR; Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan, USA., Elder JT; Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA; Ann Arbor Veterans Administration Hospital, Ann Arbor, Michigan, USA., Nair RP; Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA. Electronic address: rnair@umich.edu.

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2015 Apr; Vol. 135 (4), pp. 1177-1180. Date of Electronic Publication: 2014 Dec 10.