Muhammad Ansar
Quaid-i-Azam University
H-index: 34
Asia-Pakistan
Top articles of Muhammad Ansar
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome | European Journal of Human Genetics | Madiha Amin Malik Muhammad Arif Nadeem Saqib Edwin Mientjes Anushree Acharya Muhammad Rizwan Alam | 2023/12 |
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes | The Journal of Gene Medicine | Shazia Khan Muhammad Umair Safdar Abbas Uroba Ali Gohar Zaman | 2023/10 |
Combined single gene testing and genome sequencing as an effective diagnostic approach for anophthalmia and microphthalmia patients | Genes | Rabia Basharat Kim Rodenburg María Rodríguez-Hidalgo Afeefa Jarral Ehsan Ullah | 2023/8/1 |
Phenotype expansion for atypical Gaucher disease due to homozygous missense PSAP variant in a large consanguineous Pakistani family | Genes | Suzanne M. Leal Khurram Liaqat Shabir Hussain Anushree Acharya Abdul Nasir Thashi Bharadwaj | 2022/4/9 |
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment | European Journal of Human Genetics | Thashi Bharadwaj Isabelle Schrauwen Sakina Rehman Khurram Liaqat Anushree Acharya | 2022/1 |
Emergence of hypermucoviscous colistin-resistant high-risk convergent Klebsiella pneumoniae ST-2096 clone from Pakistan | Future Microbiology | Maleeha Urooj Mehreen Shoukat Muhammad Imran Muhammad Ansar Rani Faryal | 2022/9 |
Loss of function variants in the XPC causes severe xeroderma pigmentosum in three large consanguineous families | Klinische Pädiatrie | Warda Nawal Asmat Ullah Ubaid Ullah Kanza Farrakh Farooq Ahmad | 2022/5 |
A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family | European Journal of Dermatology | Khadim Shah Sulman Basit Ghazanfar Ali Khushnooda Ramzan Muhammad Ansar | 2021/5/1 |
Exome sequencing identifies novel and known mutations in families with intellectual disability | BMC Medical Genomics | Memoona Rasheed Valeed Khan Ricardo Harripaul Maimoona Siddiqui Madiha Amin Malik | 2021/12 |
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood | NPJ Genomic Medicine | Michael A Levy David B Beck Kay Metcalfe Sofia Douzgou Sivagamy Sithambaram | 2021/11/8 |
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13 | Journal of human genetics | Anushree Acharya Syed Irfan Raza Muhammad Zeeshan Anwar Thashi Bharadwaj Khurram Liaqat | 2021/10 |
A novel homozygous nonsense mutation p. Cys366* in the WNT10B gene underlying split-hand/split foot malformation in a consanguineous Pakistani family | Frontiers in Pediatrics | Amjad Khan Rongrong Wang Shirui Han Muhammad Umair Mohammad A Alshabeeb | 2020/1/9 |
Naphthoquinones from Handroanthus impetiginosus promote skin wound healing through Sirt3 regulation | Iranian Journal of Basic Medical Sciences | Fayyaz Ahmad Shaheen Bibi Mincheol Kang Mariam Anees Muhammad Ansar | 2020/9 |
Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants | Genes | Amjad Khan Zhichao Miao Muhammad Umair Amir Ullah Mohammad A Alshabeeb | 2020/8/31 |
Daily Salt Intake, its Discretionary Use and Validation of Methods for Estimation using Spot Urine–Findings from Islamabad, Pakistan | medRxiv | Muhammad Arif Nadeem Saqib Ibrar Rafique Muhammad Ansar Tayyaba Rahat | 2020/7/11 |
Delineation of a human Mendelian disorder of the DNA demethylation machinery: TET3 deficiency | The American Journal of Human Genetics | David B Beck Ana Petracovici Chongsheng He Hannah W Moore Raymond J Louie | 2020/2/6 |
