Follow
Shabir Hussain
Shabir Hussain
Verified email at bs.qau.edu.pk
Title
Cited by
Cited by
Year
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance
K Liaqat, I Schrauwen, SI Raza, K Lee, S Hussain, I Chakchouk, A Nasir, ...
Journal of human genetics 64 (2), 153-160, 2019
412019
Biallelic variants in four genes underlying recessive osteogenesis imperfecta
A Hayat, S Hussain, M Bilal, M Kausar, B Almuzzaini, S Abbas, A Tanveer, ...
European journal of medical genetics 63 (8), 103954, 2020
322020
Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice
JY Hwang, S Nawaz, J Choi, H Wang, S Hussain, M Nawaz, ...
Frontiers in Cell and Developmental Biology 9, 662903, 2021
272021
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
I Ullah, N Kakar, I Schrauwen, S Hussain, I Chakchouk, K Liaqat, ...
Human genetics 138, 593-600, 2019
192019
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment
I Schrauwen, I Chakchouk, K Liaqat, A Jan, A Nasir, S Hussain, ...
Human genetics 137, 471-478, 2018
192018
Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux
A Zeb, N Shinwari, K Shah, SZT Gilani, S Khan, KW Lee, SI Raza, ...
The International Journal of Biochemistry & Cell Biology 102, 76-86, 2018
162018
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome
Abdullah, M Yousaf, Z Azeem, M Bilal, K Liaqat, S Hussain, F Ahmad, ...
Genetic Testing and Molecular Biomarkers 23 (10), 744-750, 2019
142019
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia
S Nawaz, MI Ullah, BS Hamid, J Nargis, M Nawaz, S Hussain, W Ahmad
Journal of Human Genetics 66 (7), 725-730, 2021
132021
Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III
A Ullah, M Umair, S Hussain, A Jan, W Ahmad
Pediatr Int 60 (3), 304-6, 2018
112018
First evidence of involvement of TBC1D25 in causing human male infertility
S Nawaz, S Hussain, S Basit, W Ahmad
European Journal of Medical Genetics 64 (2), 104142, 2021
92021
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
K Liaqat, S Hussain, M Bilal, A Nasir, A Acharya, RH Ali, S Nawaz, ...
Journal of human genetics 65 (2), 187-192, 2020
92020
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome
H Khan, AEQ Chong, M Bilal, S Nawaz, Abdullah, S Abbasi, A Hussain, ...
Journal of Human Genetics 67 (5), 253-259, 2022
82022
A homozygous nonsense variant in DYM underlies Dyggve–Melchior–Clausen syndrome associated with ectodermal features
Abdullah, PW Shah, S Nawaz, S Hussain, A Ullah, S Basit, W Ahmad
Molecular Biology Reports 47, 7083-7088, 2020
82020
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family
A Hayat, AA Khan, A Rauf, SU Khan, S Hussain, A Ullah, W Ahmad, ...
Clinical Dysmorphology 29 (1), 17-23, 2020
52020
Novel missense and 3′-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment
K Liaqat, I Chiu, K Lee, I Chakchouk, PB Andrade-Elizondo, ...
Journal of human genetics 63 (11), 1099-1107, 2018
52018
A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females
S Hussain, S Nawaz, I Khan, N Khan, S Hussain, I Ullah, KA Fakhro, ...
European Journal of Medical Genetics 65 (11), 104629, 2022
42022
Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family
SML Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi ...
Genes 13 (4), 662, 2022
42022
A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family
S Hussain, Umm-e-Kalsoom, I Ullah, K Liaqat, S Nawaz, W Ahmad
Genetic testing and molecular biomarkers 24 (4), 217-223, 2020
42020
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility
JY Hwang, P Chai, S Nawaz, J Choi, F Lopez-Giraldez, S Hussain, ...
Elife 12, RP90095, 2023
22023
A novel variant in AFF3 underlying isolated syndactyly
H Khan, G Koh, AEQ Chong, M Zahid, S Hussain, H Ali, W Ahmad, S Xue
Clinical Genetics 103 (3), 341-345, 2023
22023
The system can't perform the operation now. Try again later.
Articles 1–20