Muhammad Umair (M Umair)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 34

Top Venues

Clinical genetics

Genes

Molecular psychiatry

Brain : a journal of neurology

King Abdullah International Medical Research Center

Quaid-i-Azam University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

King Abdullah International Medical Research Center Aug 26 2018

Saudi Arabia

Post Doctoral Researcher/Medical Research Scientest :: Medical Genomics Research Department

Education History

Quaid-i-Azam University

Pakistan

PHD :: Biochemistry

Publications

Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck-Wödl, Dina Osmanović, Kathrine Bjørgo, Asif Mir, Muhammad Ilyas, Saad M Abbasi, Stephanie Efthymiou, Natalia Dominik, Reza Maroofian, Henry Houlden, Julia Rankin, Alistair T Pagnamenta, Marwan Nashabat, Waleed Altwaijri, Majid Alfadhel, Muhammad Umair, Ebtissal Khouj, William Reardon, Ayman W. El-Hattab, Mohammed Mekki, Gunnar Houge, Christian Beetz, Peter Bauer, Audrey Putoux, Gaetan Lesca, Damien Sanlaville, Fowzan Sami Alkuraya, Robert W Taylor, Hans-Joachim Mentzel, Christian A Hübner, Peter Huppke, Ronald P Hart, Tobias B Haack, Megerditch Kiledjian, Ignacio Rubio
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain : a journal of neurology 147 (4) (2024)
Muhammad Umair, Ahmed Waqas
Undiagnosed Rare Genetic Disorders: Importance of Functional Characterization of Variants. Genes 14 (7) (2023)
Tian Meng, Xiaoting Chen, Zheng-Jie He, Haofeng Huang, Shiyin Lin, Kunru Liu, Guo Bai, Hao Liu, Min-Dong Xu, Haixia Zhuang, Yunlong Zhang, Ahmed Waqas, Qian Liu, Chuan Zhang, Xiang-Dong Sun, Huansen Huang, Muhammad Umair, Yousheng Yan, Du Feng
ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity. Molecular psychiatry 28 (3) (2023)
Tian Meng, Xiaoting Chen, Zheng-Jie He, Haofeng Huang, Shiyin Lin, Kunru Liu, Guo Bai, Hao Liu, Min-Dong Xu, Haixia Zhuang, Yunlong Zhang, Ahmed Waqas, Qian Liu, Chuan Zhang, Xiang-Dong Sun, Huansen Huang, Muhammad Umair, Yousheng Yan, Du Feng
ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity. Molecular psychiatry 28 (3) (2023)
Tian Meng, Xiaoting Chen, Zheng-Jie He, Haofeng Huang, Shiyin Lin, Kunru Liu, Guo Bai, Hao Liu, Min-Dong Xu, Haixia Zhuang, Yunlong Zhang, Ahmed Waqas, Qian Liu, Chuan Zhang, Xiang-Dong Sun, Huansen Huang, Muhammad Umair, Yousheng Yan, Du Feng
ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity. Molecular psychiatry (2023)
Muhammad Umair, Muhammad Bilal, Khadim Shah, Gulab Said, Farooq Ahmad
Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 ( SLCO2A1 ) Gene Underlies Isolated Nail Clubbing. Genes 14 (2) (2023)
Muhammad Umair, Muhammad Bilal, Khadim Shah, Gulab Said, Farooq Ahmad
Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 ( SLCO2A1 ) Gene Underlies Isolated Nail Clubbing. Genes 14 (2) (2023)
Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck-Wödl, Dina Osmanović, Kathrine Bjørgo, Asif Mir, Muhammad Ilyas, Saad M Abbasi, Stephanie Efthymiou, Natalia Dominik, Reza Maroofian, Henry Houlden, Julia Rankin, Alistair T Pagnamenta, Marwan Nashabat, Waleed Altwaijri, Majid Alfadhel, Muhammad Umair, Ebtissal Khouj, William Reardon, Ayman W El-Hattab, Mohammed Mekki, Gunnar Houge, Christian Beetz, Peter Bauer, Audrey Putoux, Gaetan Lesca, Damien Sanlaville, Fowzan Sami Alkuraya, Robert W Taylor, Hans-Joachim Mentzel, Christian A Hübner, Susann Diegmann, Ronald P Hart, Tobias B Haack, Megerditch Kiledjian, Ignacio Rubio
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain : a journal of neurology (2023)
Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck-Wödl, Dina Osmanović, Kathrine Bjørgo, Asif Mir, Muhammad Ilyas, Saad M Abbasi, Stephanie Efthymiou, Natalia Dominik, Reza Maroofian, Henry Houlden, Julia Rankin, Alistair T Pagnamenta, Marwan Nashabat, Waleed Altwaijri, Majid Alfadhel, Muhammad Umair, Ebtissal Khouj, William Reardon, Ayman W El-Hattab, Mohammed Mekki, Gunnar Houge, Christian Beetz, Peter Bauer, Audrey Putoux, Gaetan Lesca, Damien Sanlaville, Fowzan Sami Alkuraya, Robert W Taylor, Hans-Joachim Mentzel, Christian A Hübner, Susann Diegmann, Ronald P Hart, Tobias B Haack, Megerditch Kiledjian, Ignacio Rubio
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain : a journal of neurology (2023)
Tian Meng, Xiaoting Chen, Zheng-Jie He, Haofeng Huang, Shiyin Lin, Kunru Liu, Guo Bai, Hao Liu, Min-Dong Xu, Haixia Zhuang, Yunlong Zhang, Ahmed Waqas, Qian Liu, Chuan Zhang, Xiang-Dong Sun, Huansen Huang, Muhammad Umair, Yousheng Yan, Du Feng
ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity. Molecular psychiatry (2023)
Tian Meng, Xiaoting Chen, Zheng-Jie He, Haofeng Huang, Shiyin Lin, Kunru Liu, Guo Bai, Hao Liu, Min-Dong Xu, Haixia Zhuang, Yunlong Zhang, Ahmed Waqas, Qian Liu, Chuan Zhang, Xiang-Dong Sun, Huansen Huang, Muhammad Umair, Yousheng Yan, Du Feng
ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity. Molecular psychiatry 28 (3) (2023)
Tian Meng, Xiaoting Chen, Zheng-Jie He, Haofeng Huang, Shiyin Lin, Kunru Liu, Guo Bai, Hao Liu, Min-Dong Xu, Haixia Zhuang, Yunlong Zhang, Ahmed Waqas, Qian Liu, Chuan Zhang, Xiang-Dong Sun, Huansen Huang, Muhammad Umair, Yousheng Yan, Du Feng
ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity. Molecular psychiatry (2023)
Nawaf Alawad, Abdullah Alangari, Abdulaziz Allhybi, Nazish Masud, Faisal Almuzaini, Mohammed Alshamari, Muhammad Umair, Majid Alfadhel
Assessment of attitudes towards the use of preimplantation genetic diagnosis in a single center in Riyadh, Saudi Arabia. Journal of genetic counseling (2023)
Hamed Nawaz, null Mujahid, Sher Alam Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, null Fardous, Niamatullah Khan, Nazif Muhammad, Amjad Khan, Sohail Aziz Paracha, Qamre Alam, Mohammad Azhar Kamal, Misbahuddin M Rafeeq, Noor Muhammad, Fayaz Ul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, Muhammad Umair
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome. Genes 14 (5) (2023)
Muhammad Umair
Rare Genetic Disorders: Beyond Whole-exome sequencing. The journal of gene medicine (2023)
Tian Meng, Xiaoting Chen, Zheng-Jie He, Haofeng Huang, Shiyin Lin, Kunru Liu, Guo Bai, Hao Liu, Min-Dong Xu, Haixia Zhuang, Yunlong Zhang, Ahmed Waqas, Qian Liu, Chuan Zhang, Xiang-Dong Sun, Huansen Huang, Muhammad Umair, Yousheng Yan, Du Feng
ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity. Molecular psychiatry 28 (3) (2023)
Muhammad Umair, Muhammad Bilal, Khadim Shah, Gulab Said, Farooq Ahmad
Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 ( SLCO2A1 ) Gene Underlies Isolated Nail Clubbing. Genes 14 (2) (2023)
Arif Mahmood, Abdus Samad, Abid Ali Shah, Abdul Wadood, Afnan Alkathiri, Mohammed Ali Alshehri, Mohammad Zubair Alam, Taimur Hussain, Pei He, Muhammad Umair
A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25. Clinical genetics (2022)
Misbahuddin M Rafeeq, Muhammad Umair, Muhammad Bilal, Alaa Hamed Habib, Ahmed Waqas, Ziaullah M Sain, Mohammad Zubair Alam, Raja Hussain Ali
A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia. Neurogenetics (2022)
Masashi Nishikawa, Marcello Scala, Muhammad Umair, Hidenori Ito, Ahmed Waqas, Pasquale Striano, Federico Zara, Gregory Costain, Valeria Capra, Koh-Ichi Nagata
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder. Journal of medical genetics (2022)
Anwar Ullah, Zhaohan Lin, Muhammad Younus, Sarfraz Shafiq, Shazia Khan, Memoona Rasheed, Arif Mahmood, Amany I Alqosaibi, Mohammed Ali Alshehri, Amjad Khan, Muhammad Umair
Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26. The journal of gene medicine 24 (4) (2022)
Zaheer Ahmad, Romana Liaqat, Oliva Palander, Muhammad Bilal, Shah Zeb, Farooq Ahmad, Muhammad Jawad Khan, Muhammad Umair
Genetic overview of postaxial polydactyly: Updated classification. Clinical genetics (2022)
Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill Anne Rosenfeld, Jennifer A Bassetti, Oana Moldovan, Emily O'Heir, Lindsay C Burrage, Jake Allen, Lisa T Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, null null, Nadia Chabane, Elaine H Zackai, Sebastien Lebon, Beth Keena, Elizabeth Joyce Bhoj, Muhammad Umair, Dong Li, Kirsten Ann Donald, Andrea Superti-Furga
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Molecular autism 12 (1) (2021)
Arif Mahmood, Abid Ali Shah, Muhammad Umair, Yiming Wu, Amjad Khan
Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step-up. Clinical genetics 100 (6) (2021)
Abdulaziz Asiri, Deemah Alwadaani, Muhammad Umair, Kheloud M Alhamoudi, Mohammed H Almuhanna, Abdul Nasir, Bahauddeen M Alrfaei, Abeer Al Tuwaijri, Tlili Barhoumi, Yusra Alyafee, Bader Almuzzaini, Mohammed Aldrees, Mariam Ballow, Latifah Alayyar, Abdulkareem AlAbdulrahman, Yazeid Alhaidan, Nahlah Al Ghasham, Sulaiman Al-Ajaji, Mohammad Alsalamah, Wafa Al Suwairi, Majid Alfadhel
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum. Genes 12 (2) (2021)
Muhammad Umair, Mariam Ballow, Abdulaziz Asiri, Yusra Alyafee, Abeer Al Tuwaijri, Kheloud M Alhamoudi, Taghrid Aloraini, Marwa Abdelhakim, Azza Thamer Althagafi, Senay Kafkas, Lamia Alsubaie, Muhammad Talal Alrifai, Robert Hoehndorf, Ahmed Alfares, Majid Alfadhel
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. Clinical genetics 98 (6) (2020)
Amjad Khan, Zhichiao Miao, Muhammad Umair, Amir Ullah, Mohammad A Alshabeeb, Muhammad Bilal, Farooq Ahmad, Gudrun A Rappold, Muhammad Ansar, Raphaël Carapito
Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants. Genes 11 (9) (2020)
Amjad Khan, Muhammad Umair, Rania Abdulfattah Sharaf, Muhammad Ismail Khan, Amir Ullah, Safdar Abbas, Nargis Shaheen, Muhammad Bilal, Farooq Ahamd
Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability. Human genome variation 7 (1) (2020)
Majid Alfadhel, Muhammad Umair, Bader Almuzzaini, Saif Alsaif, Sulaiman A AlMohaimeed, Maher A Almashary, Wardah Alharbi, Latifah Alayyar, Abdulrahman Alasiri, Mariam Ballow, Abdulkareem AlAbdulrahman, Monira Alaujan, Marwan Nashabat, Ali Al-Odaib, Waleed Altwaijri, Ahmed Al-Rumayyan, Muhammad T Alrifai, Ahmed Alfares, Mohammed AlBalwi, Brahim Tabarki
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening. Annals of clinical and translational neurology 6 (10) (2019)
Muhammad Umair, Muhammad Bilal, Raja H Ali, Bader Alhaddad, Farooq Ahmad, null Abdullah, Tobias B Haack, Majid Alfadhel, Muhammad Ansar, Thomas Meitinger, Wasim Ahmad
Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb. Clinical genetics 96 (2) (2019)
Asmat Ullah, Muhammad Umair, Ayesha I Majeed, null Abdullah, Abid Jan, Wasim Ahmad
A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. Clinical genetics 95 (4) (2019)
Muhammad Umair, A Ullah, S Abbas, Wasim Ahmad, Sulman Basit, W Ahmad
First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation. Clinical genetics 93 (3) (2018)
Muhammad Umair, G Eckstein, G Rudolph, T Strom, E Graf, D Hendig, J Hoover, J Alanay, T Meitinger, H Schmidt, Wasim Ahmad
Homozygous XYLT2 variants as a cause of spondyloocular syndrome. Clinical genetics 93 (4) (2018)
Farooq Ahmad, Tanveer Ahmad, Muhammad Umair, null Abdullah, Wasim Ahmad
Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia. Congenital anomalies 59 (4) (2018)

Muhammad Umair.css-eqlu8i{font-size:small;padding-left:4px;} (M Umair)

Publication Activity (10 Years)

Top Topics

Top Venues

Muhammad Umair (M Umair)