|
IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF MICRORNAS REGULATING HTERT
Maham Ansari, Rafiullah Rafiullah, Abdul Wali, Afrasiab Khan Tareen, Imrana Niaz Sultan, Muhammad Mushtaq Yasinzai
(2025)
Experimental Oncology
vol.
47
no.
2
pp.
167-180
|
|
Author Correction: Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Saima Riazuddin, Inna A Belyantseva, Arnaud PJ Giese, Kwanghyuk Lee, Artur A Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P Sinha, Sue Lee, David Terrell, Rashmi S Hegde, Rana A Ali, Saima Anwar, Paula B Andrade-Elizondo, Asli Sirmaci, Leslie V Parise, Sulman Basit, Abdul Wali, Muhammad Ayub, Muhammad Ansar, Wasim Ahmad, Shaheen N Khan, Javed Akram, Mustafa Tekin, Sheikh Riazuddin, Tiffany Cook, Elke K Buschbeck, Gregory I Frolenkov, Suzanne M Leal, Thomas B Friedman, Zubair M Ahmed
(2025)
Nature genetics
vol.
57
no.
9
pp.
2340-2342
|
|
Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families
Abdulfatah M Alayoubi, Ambreen Ijaz, Abdul Wali, Jamil A Hashmi, Azizah Alharbi, Sulman Basit
(2025)
Annals of Medicine
vol.
57
no.
1
pp.
2447400
|
|
Nilotinib: disrupting the MYC-MAX heterocomplex
Kamilla Shah, Maham Ansari, Samina Saeed, Abdul Wali, Muhammad Mushtaq Yasinzai
(2024)
Bioinformatics and Biology Insights
vol.
18
no.
-
pp.
11779322241267056
|
|
A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
Muhammad Ayub, Xing Xiong, Saima Anwer, Janine Altmüller, Muhammad Naeem, Noor Hassan, Kafaitullah Khan, Susanne Motameny, Samira Khaliq, Fazal Ur Rehman, Syed Ashraf Uddin, Abdul Wali, Regina Betz, Sulman Basit
(2024)
Journal of Medicine and Life
vol.
17
no.
9
pp.
892
|
|
A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family
Xing Xiong, Syed Ashraf Uddin, Sobia Munir, Nicole Cesarato, Holger Thiele, Noor Hassan, Surjeet Kumar, Fazal Ur Rehman, Muhammad Naeem, Abdul Wali, Sulman Basit, F Buket Basmanav, Muhammad Ayub, Regina C Betz
(2023)
Clinical and Experimental Dermatology
vol.
48
no.
4
pp.
434-437
|
|
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia‐Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul-Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur-Rehman, Zeeshan Anjum, Fazal- Ur-Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan
(2023)
Genetics Research
vol.
2023
no.
1
pp.
9999660
|
|
Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family
Abdulhadi Almazroea, Ambreen Ijaz, Abdul Aziz, Muhammad Mushtaq Yasinzai, Rafiullah Rafiullah, Fazal Ur Rehman, Shakeela Daud, Rozeena Shaikh, Muhammad Ayub, Abdul Wali
(2023)
Medicina
vol.
59
no.
1
pp.
103
|
|
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
Thashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, Khurram Liaqat, Anushree Acharya, Arnaud PJ Giese, Liz M Nouel-Saied, Abdul Nasir, Jenna L Everard, Lana M Pollock, Shaoyuan Zhu, Michael J Bamshad, Deborah A Nickerson, Raja Hussain Ali, Asmat Ullah, Abdul Wali, Ghazanfar Ali, Regie Lyn P Santos-Cortez, Zubair M Ahmed, Brian M McDermott Jr, Muhammad Ansar, Saima Riazuddin, Wasim Ahmad, Suzanne M Leal
(2022)
European Journal of Human Genetics
vol.
30
no.
1
pp.
22-33
|
|
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay
Rafiullah Rafiullah, Alia M Albalawi, Sultan R Alaradi, Majed Alluqmani, Muhammad Mushtaq, Abdul Wali, Sulman Basit
(2022)
Journal of Neurogenetics
vol.
36
no.
4
pp.
108-114
|
|
NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; a rare combination
Ambreen Ijaz, Fatima Alfadhli, Azizah Alharbi, Yasir Naseem Khan, Yasser Khaled Alhawas, Jamil A Hashmi, Abdul Wali, Sulman Basit
(2022)
European Journal of Medical Genetics
vol.
65
no.
10
pp.
104578
|
|
Molecular, cytogenetic, and hematological analysis of chronic myeloid leukemia patients and discovery of two novel translocations
Muhammad Asif, Abrar Hussain, Abdul Wali, Nazeer Ahmed, Irfan Ali, Zafar Iqbal, Muhammad Amir, Muhammad Shafiq, Mahmood Rasool
(2021)
Analytical Cellular Pathology
vol.
2021
no.
1
pp.
4909012
|
|
Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet‐Biedl Syndrome
Ghazanfar Ali, Sadia, Jia Nee Foo, Abdul Nasir, Chu-Hua Chang, Elaine GuoYan Chew, Zahid Latif, Zahid Azeem, Syeda Ain-ul-Batool, Syed Akif Raza Kazmi, Naheed Bashir Awan, Abdul Hameed Khan, Fazal-Ur- Rehman, Madiha Khalid, Abdul Wali, Samina Sarwar, Wasim Akhtar, Ansar Ahmed Abbasi, Rameez Nisar
(2021)
BioMed research international
vol.
2021
no.
1
pp.
6626015
|
|
A Novel Heterozygous Missense Mutation in COL7A1 Gene in Dystrophic Epidermolysis Bullosa
Kalsoom Kakar, Nida Ajmal, Sanam Zeib Khan, Paras Shehzad, Maryam Malik, Haleema Sadia, Abdul Wali, Rozeena Shaikh
(2021)
INTERNATIONAL JOURNAL OF HUMAN GENETICS
vol.
21
no.
3
pp.
102-109
|
|
Novel frameshift mutations in XPC gene underlie xeroderma pigmentosum in Pakistani families
Ambreen Ijaz, Khadim Shah, Abdul Aziz, Fazal U Rehman, Yasir Ali, Abdul M Tareen, Kafaitullah Khan, Muhammad Ayub, Abdul Wali
(2021)
Indian Journal of Dermatology
vol.
66
no.
2
pp.
220-222
|
|
Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing
Syed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, Axel Schmidt, Fazal UR REHMAN, Muhammad Naeem, Sabrina Wolf, Abdul Samad Tareen, Muhammad Anwar Panezai, Holger Thiele, Abdul Wali, Regina Foelster-Holst, Sulman Basit, Muhammad Ayub, Regina C Betz
(2020)
Acta Dermato-Venereologica
vol.
100
no.
16
pp.
5882
|
|
Novel missense alteration in LRP4 gene underlies Cenani–Lenz syndactyly syndrome in a consanguineous family
Nuha Alrayes, Abdul Aziz, Farman Ullah, Muhammad Ishfaq, Musharraf Jelani, Abdul Wali
(2020)
The Journal of Gene Medicine
vol.
22
no.
1
pp.
e3143
|
|
Sequencing and Characterization of Mitochondrial Protein‐Coding Genes for Schizothorax niger (Cypriniformes: Cyprinidae) with Phylogenetic Consideration
Tasleem Akhtar, Ghazanfar Ali, Nuzhat Shafi, Wasim Akhtar, Abdul Hameed Khan, Zahid Latif, Abdul Wali, Syeda Ain-ul-Batool, Abdul Rehman Khan, Sadia Mumtaz, Syed Iftikhar Altaf, Sundus Khawaja, Sadia, Madiha Khalid, Fazal Ur Rehman, Qudir Javid
(2020)
BioMed Research International
vol.
2020
no.
1
pp.
5980135
|
|
UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan
Ambreen Ijaz, Sabrina Wolf, Safur Rehman Mandukhail, Sulman Basit, Regina C Betz, Abdul Wali
(2019)
Journal of Dermatological Science
vol.
95
no.
3
pp.
113-118
|
|
XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect
Ambreen Ijaz, Sulman Basit, Ajab Gul, Lilas Batool, Abrar Hussain, Sibtain Afzal, Khushnooda Ramzan, Jamil Ahmad, Abdul Wali
(2019)
Congenital anomalies
vol.
59
no.
1
pp.
18-21
|