| 1 | Bilal, M., Khan, H., Khan, M.J. et al. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly. Eur J Hum Genet 31, 1270–1274 (2023). https://doi.org/10.1038/s41431-023-01450-5 |
| 2 | Muhammad Bilal, Tobias B. Haack, Rebecca Buchert, Susana Peralta, Najum Uddin, Raja Hussain Ali, Khurram Liaqat, Wasim Ahmad; Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly. Mol Syndromol 31 May 2023; 14 (3): 201–207. |
| 3 | Muhammad Bilal,Tobias B. Haack, Rebecca Buchert, Susana Peralta, Imtiaz Ahmad, Faisal, Sanaullah Abbasi, Wasim Ahmad; Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation. Mol Syndromol 5 December 2023; |
| 4 | Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation Muhammad Bilal, Amir Hayat, Muhammad Umair, Asmat Ullah, Sundus Khawaja, Erum Malik, Margit Burmeister, Nousheen Bibi, Umm-e-Kalsoom, Muhammad Iqbal Memon, Sulman Basit, Wasim Ahmad, and Bushra Khan |
| 5 | Umair M, Bilal M, Ali RH, et al. Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb. Clin Genet. 2019; 96: 134–139 |
| 6 | Muhammad Bilal, Wasim Ahmad; A Frameshift Variant in KIAA0825 Causes Postaxial Polydactyly. Mol Syndromol 2 March 2021; 12 (1): 20–24. |
| 7 | Umair, M.; Bilal, M.; Shah, K.; Said, G.; Ahmad, F. Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 (SLCO2A1) Gene Underlies Isolated Nail Clubbing. Genes 2023, 14, 430. https://doi.org/10.3390/genes14020430 |
| 8 | Nawaz S, Hussain S, Bilal M, et al. A variant in sperm-specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility. J Gene Med. 2024; 26(1):e3583 |
| 9 | Ali, A., Abdullah, Bilal, M. et al. Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families. Mol Biol Rep 50, 9963–9970 (2023). |
| 10 | EEFSEC deficiency: A selenopathy with early-onset neurodegeneration, Lucia Laugwitz, Rebecca Buchert, Patricio Olguín, Mehrdad A. Estiar, Mihaela Atanasova, Wilson Marques Jr., Jörg Enssle, Brian Marsden, Javiera Avilés, Andrés González-Gutiérrez, Noemi Candia, Marietta Fabiano, Susanne Morlot, Susana Peralta, Alisa Groh, Carmen Schillinger, Carolin Kuehn, Linda Sofan, Marc Sturm, Benjamin Bender, Pedro J. Tomaselli, Uta Diebold. Amelie J. Mueller, Stephanie Spranger, Maren Fuchs, Fernando Freua, Uirá Souto Melo, Lauren Mattas, Setareh Ashtiani, Oksana Suchowersky, Samuel Groeschel, Guy A. Rouleau, Keren Yosovich, Marina Michelson, Zvi Leibovitz, Muhammad Bilal. The American Journal of Human Genetics, Volume 112, Issue 1 |
| 11 | Umair M, Ahmed Z, Shaker B, Bilal M, et al. A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9). Clinical Genetics. 2024; 106(4): 488-493. |
| 12 | Fati Ullah Khan, Hammal Khan, Kifayat Ullah, Shoaib Nawaz, Abdullah, Muhammad Javed Khan, Sohail Ahmed, Muhammad Ilyas, Amjad Ali, Imran Ullah, Aamir Sohail, Shabir Hussain, Farooq Ahmad, Faisal, Raza Sufyan, Amir Hayat, Tooba Hanif, Fatima Bibi, Maria Hayat, Rehmat Ullah, Inam Ullah Khan, Raja Hussain Ali, Muhammad Sharif Hasni, Hamid Ali, Muhammad Bilal, Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clinical Genetics. 2024; |
| 13 | Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A. High, Jiahai Shi, Undiagnosed Diseases Network ∙ Telethon Undiagnosed Diseases Program ∙ Elena Putti, Luigi Ferrante, Viviana Cetrangolo, Annalaura Torella, Melissa A. Walker, Romano Tenconi, Maria Iascone, Davide Mei, Renzo Guerrini, Jasper van der Smagt, Hester Y. Kroes, Koen L.I. van Gassen, Muhammad Bilal, De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. The American Journal of Human Genetics, Volume 110, Issue 8, 1377 - 1393 |
| 14 | Andreas Traschütz, Felix Heindl, Muhammad BilalFrequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy, Neurology Journals, 2023 |
| 15 | Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Clinical Genetics of Polydactyly: An Updated Review, Frontiers in Genetics. 2018; |
| 16 | Kakar MU, Akram M, Zubair Mehboob M, Younus M, Bilal M, et al. (2022) Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment. PLOS ONE 17(6) |
| 17 | Muhammad Umair, Oliva Palander, Muhammad Bilal, Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A, Journal of Genomics, 2021 |
| 18 | Muhammad Bilal, Lena Jafri, Hafsa Majid, Aysha Habib Khan, Sibtain Ahmed, Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan, Journal of the College of Physicians and Surgeons Pakistan |
| 19 | Tariq Moatter, Sibtain Ahmed, Hafsa Majid, Lena Jafri, Muhammad Bilal, Najumuddin, Faisal, Aysha Habib Khan, Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin, Journal of Gene Medicine |
| 20 | Misbahuddin M. Rafeeq, Hussam Aly Sayed Murad, Najumuddin, Samee Ullah, Zaheer Ahmed, Qamre Alam, Muhammad Bilal, Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia, Frontiers in Genetics. 2023 |
