Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.

Autor: Zulfiqar S; Department of Biotechnology, Kinnaird College for Women, Lahore, Pakistan., Moawia A; Institute of Human Genetics, Ulm University and Ulm University Medical Centre, Ulm, Germany., Waseem SS; Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital, University of Cologne, Cologne, Germany., Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Swat, Pakistan., Ramzan S; National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan., Anjum I; Department of Biotechnology, Kinnaird College for Women, Lahore, Pakistan., Baig SM; National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.; Pakistan Science Foundation, Islamabad, Pakistan., Tariq M; National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.

Publikováno v: The International journal of neuroscience [Int J Neurosci] 2024 Jun; Vol. 134 (1), pp. 28-33. Date of Electronic Publication: 2022 Jun 12.

Modifier Genes in Microcephaly: A Report on WDR62 , CEP63 , RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ .

Autor: Makhdoom EUH; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan.; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan., Waseem SS; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany., Iqbal M; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan.; Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany., Abdullah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University, Rawalpindi 46000, Pakistan., Hussain G; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan., Asif M; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany., Budde B; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Höhne W; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Tinschert S; Zentrum Medizinische Genetik, Medizinische Universität, 6020 Innsbruck, Austria., Saadi SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan., Yousaf H; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan., Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Swat 19130, Pakistan., Fatima A; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi 74000, Pakistan., Kaygusuz E; Bilecik Şeyh Edebali University, Molecular Biology and Genetics, Gülümbe Campus, Bilecik 11230, Turkey., Khan A; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan., Jameel M; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan., Khan S; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan., Tariq M; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan., Anjum I; Department of Biotechnology, Kinnaird College for Women, Lahore 54000, Pakistan., Altmüller J; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Thiele H; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Höning S; Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany., 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, Aga Khan University, Karachi 74000, Pakistan.; Pakistan Science Foundation (PSF), 1- Constitution Avenue, G-5/2, Islamabad 44000, Pakistan., Nürnberg P; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of 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), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.

Publikováno v: Genes [Genes (Basel)] 2021 May 13; Vol. 12 (5). Date of Electronic Publication: 2021 May 13.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

Autor: Braun DA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Internal Medicine D, University Hospital of Münster, Münster, Germany., Lovric S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Schapiro D; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Schneider R; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Marquez J; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Asif M; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Pakistan Institute of Engineering and Applied Sciences, Faisalabad, Pakistan., Hussain MS; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Daga A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Widmeier E; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Rao J; Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China.; Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China., Ashraf S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Tan W; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Lusk CP; Department of Cell Biology, Yale University School of Medicine, New Haven, Connecticut, USA., Kolb A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Jobst-Schwan T; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Schmidt JM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hoogstraten CA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Eddy K; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kitzler TM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Shril S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Moawia A; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Pakistan Institute of Engineering and Applied Sciences, Faisalabad, Pakistan., Schrage K; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany., Khayyat AIA; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Biochemistry Department, King Saud University, Riyadh, Saudi Arabia., Lawson JA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Gee HY; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Warejko JK; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hermle T; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Majmundar AJ; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hugo H; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Budde B; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Motameny S; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany., Noegel AA; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Fathy HM; Pediatric Nephrology Unit, Alexandria Faculty of Medicine, University of Alexandria, Alexandria, Egypt., Gale DP; Centre for Nephrology, University College London, Royal Free Hospital, London, United Kingdom., Waseem SS; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Pakistan Institute of Engineering and Applied Sciences, Faisalabad, Pakistan., Khan A; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Pakistan Institute of Engineering and Applied Sciences, Faisalabad, Pakistan., Kerecuk L; Birmingham Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom., Hashmi S; Department of Pediatric Nephrology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan., Mohebbi N; Division of Nephrology, University Hospital Zurich, Zurich, Switzerland., Ettenger R; Department of Pediatrics, University of California, Los Angeles, California., Serdaroğlu E; Department of Pediatric Nephrology, Dr. Behçet Uz Children's Hospital, Izmir, Turkey., Alhasan KA; Pediatric Department, College of Medicine, King Saud University and King Khalid University Hospital, Riyadh, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Goncalves S; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine, Institute, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Imagine, Institute, Paris, France., Ariceta G; Universitat Autonoma de Barcelona, Hospital Universitari Vall d'Hebron, Pediatric Nephrology, Barcelona, Spain., Ubetagoyena M; Hospital Universitario Donostia, Pediatric Nephrology, Donostia-San Sebastian, Spain., Antonin W; Institute of Biochemistry and Molecular Cell Biology, Medical School, RWTH Aachen University, 52074 Aachen, Germany., Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Pakistan Institute of Engineering and Applied Sciences, Faisalabad, Pakistan., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Shen Q; Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China.; Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China., Xu H; Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China.; Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China., Antignac C; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine, Institute, Paris, France.; Université Paris Descartes-Sorbonne Paris Cité, Imagine, Institute, Paris, France.; Department of Genetics, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA., Mane S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2018 Oct 01; Vol. 128 (10), pp. 4313-4328. Date of Electronic Publication: 2018 Sep 04.

Genetic heterogeneity in Pakistani microcephaly families revisited.

Autor: Ahmad I; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Baig SM; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Abdulkareem AR; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Genetic Engieneering and Biotechnology Institute, University of Baghdad, Baghdad, Iraq., Hussain MS; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Sur I; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany., Toliat MR; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany., Nürnberg G; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany., Dalibor N; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany., Moawia A; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Waseem SS; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Asif M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Nagra H; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Sher M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Khan MMA; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Hassan I; Plant Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Rehman SU; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany., Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany., Noegel AA; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.

Publikováno v: Clinical genetics [Clin Genet] 2017 Jul; Vol. 92 (1), pp. 62-68. Date of Electronic Publication: 2017 Feb 22.