First evidence of involvement of TBC1D25 in causing human male infertility.
Sulman Basit , Wasim Ahmad , Shabir Hussain , Shoaib Nawaz
European Journal of Medical Genetics 64 ( 2) 104142
2021
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia.
Wasim Ahmad , Shabir Hussain , Shoaib Nawaz , Mehboob Nawaz
Journal of Human Genetics 1 -6
7
2021
Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice
Kaya Bilguvar , Francesc Lopez-Giraldez , Richard P. Lifton , Christopher Bystroff
Frontiers in Cell and Developmental Biology 9 662903 -662903
13
2021
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.
Amir Hayat , Atif Ahmad Khan , Abdur Rauf , Saad Ullah Khan
Clinical Dysmorphology 29 ( 1) 17 -23
3
2020
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance
Khurram Liaqat , Isabelle Schrauwen , Syed Irfan Raza , Kwanghyuk Lee
Journal of Human Genetics 64 ( 2) 153 -160
15
2019
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Khurram Liaqat , Ilene Chiu , Kwanghyuk Lee , Imen Chakchouk
Journal of Human Genetics 63 ( 11) 1099 -1107
1
2018
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
Abdullah , Pashmina Wiqar Shah , Shoaib Nawaz , Shabir Hussain
Molecular Biology Reports 47 ( 9) 7083 -7088
2020
Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux
Irfanullah , Amir Zeb , Naila Shinwari , Khadim Shah
The International Journal of Biochemistry & Cell Biology 102 76 -86
5
2018
Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.
Asmat Ullah , Muhammad Umair , Shabir Hussain , Abid Jan
Pediatrics International 60 ( 3) 304 -306
3
2018
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.
Isabelle Schrauwen , Imen Chakchouk , Khurram Liaqat , Abid Jan
Human Genetics 137 ( 6) 471 -478
8
2018
Variants in KIAA0825 Underlie Autosomal Recessive Postaxial Polydactyly
Irfan Ullah , Naseebullah Kakar , Isabelle Schrauwen , Shabir Hussain
Human Genetics 138 ( 6) 593 -600
7
2019
Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Amir Hayat , Shabir Hussain , Muhammad Bilal , Mehran Kausar
European Journal of Medical Genetics 63 ( 8) 103954
2020
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
Khurram Liaqat , Shabir Hussain , Muhammad Bilal , Abdul Nasir
Journal of Human Genetics 65 ( 2) 187 -192
2020
A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family
Shabir Hussain , Umm-e-Kalsoom , Irfan Ullah , Khurram Liaqat
Genetic Testing and Molecular Biomarkers 24 ( 4) 217 -223
1
2020
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome.
Abdullah , Maryam Yousaf , Zahid Azeem , Muhammad Bilal
Genetic Testing and Molecular Biomarkers 23 ( 10) 744 -750
5
2019
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility
Jae Yeon Hwang , Pengxin Chai , Shoaib Nawaz , Jungmin Choi
Elife 12 RP90095 -RP90095
2
2023
A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females
Shah Hussain , Shoaib Nawaz , Ihsan Khan , Nida Khan
European Journal of Medical Genetics 65 ( 11) 104629 -104629
4
2022
Phenotype expansion for atypical Gaucher disease due to homozygous missense PSAP variant in a large consanguineous Pakistani family
Khurram Liaqat , Shabir Hussain , Anushree Acharya , Abdul Nasir
Genes 13 ( 4) 662 -662
5
2022
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome
Hammal Khan , Angie En Qi Chong , Muhammad Bilal , Shoaib Nawaz
Journal of Human Genetics 67 ( 5) 253 -259
9
2022
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly
Safeer Ahmad , Muhammad Zeeshan Ali , Muhammad Muzammal , Amjad Ullah Khan
Genes 14 ( 4) 869 -869
1
2023