De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 43 | 2020 |
Epidemiology of cutaneous leishmaniasis outbreak, Waziristan, Pakistan M Hussain, S Munir, TA Khan, A Khan, S Ayaz, MA Jamal, I Ahmed, S Aziz, ... Emerging infectious diseases 24 (1), 159, 2018 | 42 | 2018 |
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental … M Ansar, F Ebstein, H Özkoç, SA Paracha, J Iwaszkiewicz, M Gesemann, ... Human molecular genetics 29 (7), 1132-1143, 2020 | 40 | 2020 |
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency M Ansar, E Ranza, M Shetty, SA Paracha, M Azam, I Kern, J Iwaszkiewicz, ... Human molecular genetics 29 (4), 618-623, 2020 | 35 | 2020 |
Bi-allelic variants in IQSEC1 cause intellectual disability, developmental delay, and short stature M Ansar, H Chung, A Al-Otaibi, MN Elagabani, TA Ravenscroft, ... The American Journal of Human Genetics 105 (5), 907-920, 2019 | 29 | 2019 |
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay M Ansar, S Riazuddin, MT Sarwar, P Makrythanasis, SA Paracha, Z Iqbal, ... Genetics in Medicine 20 (7), 778-784, 2018 | 26 | 2018 |
Bi-allelic variants in DYNC1I2 cause syndromic microcephaly with intellectual disability, cerebral malformations, and dysmorphic facial features M Ansar, F Ullah, SA Paracha, DJ Adams, A Lai, L Pais, J Iwaszkiewicz, ... The American Journal of Human Genetics 104 (6), 1073-1087, 2019 | 23 | 2019 |
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature M Ansar, SA Paracha, A Serretti, MT Sarwar, J Khan, E Ranza, ... Human molecular genetics 28 (6), 972-979, 2019 | 23 | 2019 |
Anatomical variations of cystic duct encountered during open cholecystectomy AS Khan, SA Paracha, Z Shah, M Tahir, K Wahab Khyber Medical University Journal 4 (1), 19-22, 2012 | 15 | 2012 |
FOXI3 pathogenic variants cause one form of craniofacial microsomia K Mao, C Borel, M Ansar, A Jolly, P Makrythanasis, C Froehlich, ... Nature Communications 14 (1), 2026, 2023 | 11 | 2023 |
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder F Mattioli, H Darvish, SA Paracha, A Tafakhori, SG Firouzabadi, M Chapi, ... NPJ Genomic Medicine 6 (1), 94, 2021 | 11 | 2021 |
Outcome of open versus closed surgical technique for treatment of chronic pilonidal sinus: a randomized controlled trial STA Shah, M Tahir, M Nasir, SA Paracha, K Wahab Khyber Med Univ J 5, 146-151, 2013 | 10 | 2013 |
OUTCOME OF DARN REPAIR WITH POLYPROPYLENE FOR PRIMARY INGUINAL HERNIA: AN EXPERIENCE OF 837 CASES. M Nasir, SA Paracha, I Ali Khan, M Tahir, K Wahab Khyber Medical University Journal 5 (1), 2013 | 9 | 2013 |
Delineating the spectrum of genetic variants associated with Bardet-Biedl syndrome in consanguineous Pakistani pedigrees AR Rao, A Nazir, S Imtiaz, SA Paracha, YM Waryah, ID Ujjan, I Anwar, ... Genes 14 (2), 404, 2023 | 7 | 2023 |
Luminal diameters of major coronary arteries QW Ullah, S Saleem, N Asim, SA Paracha Journal of Rawalpindi Medical College (JRMC) 17 (1), 11-13, 2013 | 4 | 2013 |
Satisfaction of the pre-clinical students regarding current anatomy curriculum and anatomy teachers of KUST Institute of Medical Sciences (KIMS), Kohat SA Paracha, AS Khan, Z Shah, K Wahab KHYBER MEDICAL UNIVERSITY JOURNAL 3 (2), 45-51, 2011 | 4 | 2011 |
Biallelic variants in seven different genes Associated with clinically suspected Bardet–Biedl Syndrome H Nawaz, Mujahid, SA Khan, F Bibi, A Waqas, A Bari, Fardous, N Khan, ... Genes 14 (5), 1113, 2023 | 3 | 2023 |
Drug-Resistant Proteus Virulence Factors Characterization and Their Inhibition Using Probiotic Bacteria S Zaman, W Ullah, M Qasim, NU Akbar, I Muhammad, SA Paracha, ... Jundishapur Journal of Microbiology 15 (10), 2022 | 2 | 2022 |
ROLE OF ILEOSTOMY IN THE MANAGEMENT OF LATE CASES OF TYPHOID INTESTINAL PERFORATION. M Tahir, QT Uddin, F Ahmed, SA Paracha, N Batool Khyber Medical University Journal 4 (3), 2012 | 2 | 2012 |
Gross pyuric diabetics with uncontrolled glycemia: Pattern of pathogenic organisms and antimicrobial susceptibility SF Shah, P SA Khyber Med Univ J 8 (4), 189-93, 2016 | 1 | 2016 |