Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.

Autor: Afridi TUK; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Fatima A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, 74800, Pakistan., Satti HS; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Akram Z; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Yousafzai IK; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Naeem WB; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Fatima N; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Ali A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, 74800, Pakistan., Iqbal Z; Department of Neurology, Oslo University Hospital, Oslo, Norway., Khan A; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Shahzad M; Department of Neurosurgery, District Headquarter Hospital, Kohat, Pakistan., Liu C; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200030, China., Toft M; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Zhang F; Institute of Medical Genetics and Genomics, Fudan University, Shanghai, 200438, China., Tariq M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Davis EE; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. EriDavis@luriechildrens.org.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. EriDavis@luriechildrens.org., Khan TN; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan. tkhan@luriechildrens.org.; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. tkhan@luriechildrens.org.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. tkhan@luriechildrens.org.

Publikováno v: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2024 May 21; Vol. 299 (1), pp. 55. Date of Electronic Publication: 2024 May 21.

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.

Autor: Khan A; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Tian S; Shanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, 200438, China., Tariq M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Khan S; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Safeer M; Department of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Pakistan., Ullah N; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Akbar N; Department of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Pakistan., Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan., Asif M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Ahmad I; Institute for Cardiogenetics, University of Lübeck, DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, University Heart Center Lübeck, Lübeck, Germany., Ullah S; Department of General Surgery, Hayatabad Medical Complex, Peshawar, 2500, Pakistan., Satti HS; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Khan R; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.; NUMS Institute of Advance Studies and Research, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Naeem M; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Ali M; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.; NUMS Institute of Advance Studies and Research, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Rendu J; Inserm, U1216, CHU Grenoble Alpes, Grenoble Institute of Neurosciences, University of Grenoble Alpes, 38000, Grenoble, France., Fauré J; Inserm, U1216, CHU Grenoble Alpes, Grenoble Institute of Neurosciences, University of Grenoble Alpes, 38000, Grenoble, France., Dieterich K; Inserm, U1209, CHU Grenoble Alpes, Institute of Advanced Biosciences, University of Grenoble Alpes, 38000, Grenoble, France., Latypova X; Inserm, U1216, CHU Grenoble Alpes, Grenoble Institute of Neurosciences, University of Grenoble Alpes, 38000, Grenoble, France., Baig SM; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Pakistan Science Foundation, Constitution Avenue, Islamabad, Pakistan., Malik NA; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Zhang F; Obstetrics and Gynecology Hospital, Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai, 200438, China., Khan TN; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan. tahir.khan@numspak.edu.pk.; NUMS Institute of Advance Studies and Research, National University of Medical Sciences, Rawalpindi, 46000, Pakistan. tahir.khan@numspak.edu.pk.; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Lurie Children's Hospital, Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, United States. tahir.khan@numspak.edu.pk., Liu C; Obstetrics and Gynecology Hospital, Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai, 200438, China. liuchunyu@fudan.edu.cn.

Publikováno v: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2022 Nov; Vol. 297 (6), pp. 1601-1613. Date of Electronic Publication: 2022 Aug 24.

Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants.

Autor: Liu C; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute for Biomedical and Pharmaceutical Technologies), School of Life Sciences, Fudan University, Shanghai, 200011, China., Ajmal M; Institute of Biomedical and Genetic Engineering, Islamabad, 44000, Pakistan., Akram Z; Armed Forces Bone Marrow Transplant Centre, CMH Medical Complex, Rawalpindi, 46000, Pakistan., Ghafoor T; Armed Forces Bone Marrow Transplant Centre, CMH Medical Complex, Rawalpindi, 46000, Pakistan., Farhan M; Armed Forces Bone Marrow Transplant Centre, CMH Medical Complex, Rawalpindi, 46000, Pakistan., Shafique S; Institute of Biomedical and Genetic Engineering, Islamabad, 44000, Pakistan., Wahid S; KRL General Hospital, Islamabad, 44000, Pakistan., Bano S; KRL General Hospital, Islamabad, 44000, Pakistan., Xiao J; Division of Bone and Mineral Diseases, Musculoskeletal Research Center, Washington University School of Medicine, St. Louis, MO, 63110, USA., Satti HS; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan., Zhang F; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute for Biomedical and Pharmaceutical Technologies), School of Life Sciences, Fudan University, Shanghai, 200011, China. zhangfeng@fudan.edu.cn., Khan TN; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan. tahir.khan@numspak.edu.pk.; National Institute of Advance Studies and Research, National University of Medical Sciences, Rawalpindi, 46000, Pakistan. tahir.khan@numspak.edu.pk.

Publikováno v: BMC medical genomics [BMC Med Genomics] 2021 Nov 09; Vol. 14 (1), pp. 264. Date of Electronic Publication: 2021 Nov 09.

Single-Agent Cyclosporine for Graft-versus-Host Disease Prophylaxis in Patients with Acquired Aplastic Anemia Receiving Fludarabine-Based Conditioning.

Autor: Iftikhar R; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan. Electronic address: drraheeliftikhar@gmail.com., Chaudhry QUN; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Mahmood SK; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Ghafoor T; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Satti HS; Department of Molecular Hematology, National University of Medical Sciences, Rawalpindi, Pakistan., Shahbaz N; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Khan MA; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Khattak TA; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Shamshad GU; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Rehman J; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Farhan M; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Humayun S; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Risalat A; Department of Hematology and Stem Cell Transplant, Armed Forces Bone Marrow Transplant Center/National Institute of Blood and Marrow Transplant, Rawalpindi, Pakistan., Wahab A; Baptist Medical Center South, Montgomery, Alabama., Satti TM; Shifa International Hospital, Islamabad, Pakistan., Anwer F; Department of Hematology, Medical Oncology, Tausig Cancer Center, Cleveland Clinic, Cleveland, Ohio., Ahmed P; Department of Hematology Oncology and Stem Cell Transplant, Quaid-e-Azam International Hospital, Islamabad, Pakistan.

Publikováno v: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation [Biol Blood Marrow Transplant] 2020 Dec; Vol. 26 (12), pp. 2245-2251. Date of Electronic Publication: 2020 Jul 24.

Screening of the FANCA gene mutational hotspots in the Pakistani fanconi anemia patients revealed 19 sequence variations.

Autor: Shahid M; Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Firasat S; Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Satti HS; Armed Forces Bone Marrow Transplant Centre (AFBMTC), CMH Medical Complex, Rawalpindi, Pakistan., Satti TM; Armed Forces Bone Marrow Transplant Centre (AFBMTC), CMH Medical Complex, Rawalpindi, Pakistan., Ghafoor T; Armed Forces Bone Marrow Transplant Centre (AFBMTC), CMH Medical Complex, Rawalpindi, Pakistan., Sharif I; Department of Community Medicine, Army Medical College (AMC), National University of Medical Sciences, Rawalpindi, Pakistan., Afshan K; Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Publikováno v: Congenital anomalies [Congenit Anom (Kyoto)] 2020 Jan; Vol. 60 (1), pp. 32-39. Date of Electronic Publication: 2019 Mar 24.