Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

S. Riazuddin · SciRah

Researcher profile · Semantic Scholar

S. Riazuddin

Share profile

S. Riazuddin — researcher profile on SciRah

h-index: 79
Works: 584
Citations: 26K

Most-cited papers

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
D. Klionsky, Amal Kamal Abdel-Aziz, Sara Abdelfatah, M. Abdellatif +496 more
2021Autophagy4,016 citations Open access
Semantic Scholar
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
A. D. de Brouwer, R. Abou Jamra, Nadine Körtel, Clara Soyris +24 more
2018American Journal of Human Genetics117 citations Open access
Semantic Scholar
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
Elodie M. Richard, Daniel L. Polla, M. Z. Assir, Minerva Contreras +12 more
2019American Journal of Human Genetics87 citations Open access
Semantic Scholar
CDC14A phosphatase is essential for hearing and male fertility in mouse and human
A. Imtiaz, I. Belyantseva, Alisha Beirl, C. Fenollar-Ferrer +27 more
2018Human Molecular Genetics56 citations Open access
Semantic Scholar
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse
Rizwan Yousaf, Chunfang Gu, Zubair M. Ahmed, Shaheen N. Khan +4 more
2018PLoS Genetics47 citations Open access
Semantic Scholar
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
R. Faridi, Alessandro Rea, C. Fenollar-Ferrer, R. O'Keefe +8 more
2021Human Genetics46 citations Open access
Semantic Scholar
CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function
Saumil Sethna, P. Scott, A. Giese, T. Duncan +7 more
2021Nature Communications42 citations Open access
Semantic Scholar
Modifier variant of METTL13 suppresses human GAB1–associated profound deafness
Rizwan Yousaf, Zubair M. Ahmed, A. Giese, R. Morell +6 more
2018Journal of Clinical Investigation42 citations Open access
Semantic Scholar
Curcumin preconditioning enhances the efficacy of adipose-derived mesenchymal stem cells to accelerate healing of burn wounds
M. Azam, H. Ghufran, H. Butt, A. Mehmood +4 more
2021Burns & Trauma40 citations Open access
Semantic Scholar
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
Lin Li, Xiao-Dong Jiao, Ilaria D’Atri, Fumihito Ono +37 more
2018PLoS Genetics37 citations Open access
Semantic Scholar
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
M. Scala, G. Chua, C. Chin, H. Alsaif +26 more
2020European Journal of Human Genetics36 citations Open access
Semantic Scholar
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia
Z. Iqbal, Hasan Tawamie, W. Ba, A. Reis +7 more
2019Genetics in Medicine36 citations Open access
Semantic Scholar
Freeze gelation (chitosan-elastin‑sodium alginate)/zinc oxide nanocomposite gel with enhanced adipose stem cell proliferation and antibacterial properties.
A. Ramzan, A. Mehmood, Ramla Ashfaq, Anisa Andleeb +8 more
2023International Journal of Biological Macromolecules33 citations
Semantic Scholar
Generation and Proteome Profiling of PBMC-Originated, iPSC-Derived Corneal Endothelial Cells
M. Ali, Shahid Y. Khan, S. Vasanth, Mariya R. Ahmed +6 more
2018Investigative Ophthalmology and Visual Science29 citations Open access
Semantic Scholar
Long-term PM2.5 exposure disrupts corneal epithelial homeostasis by impairing limbal stem/progenitor cells in humans and rat models
Shengjie Hao, Zhijian Chen, Yuzhou Gu, Lu Chen +13 more
2023Particle and Fibre Toxicology28 citations Open access
Semantic Scholar
Autophagy Requirements for Eye Lens Differentiation and Transparency
Lisa A. Brennan, M. Costello, J. Hejtmancik, A. Menko +3 more
2023Cells27 citations Open access
Semantic Scholar
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
M. Usmani, Zubair M. Ahmed, Magini Pamela, V. M. Pienkowski +32 more
2021American Journal of Human Genetics27 citations Open access
Semantic Scholar
The role of FYCO1-dependent autophagy in lens fiber cell differentiation
S. Y. Khan, M. Ali, Firoz Kabir, C. Na +6 more
2022Autophagy25 citations Open access
Semantic Scholar
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
P. Biswas, Adda L. Villanueva, A. Soto-Hermida, J. Duncan +26 more
2021PLoS Genetics25 citations Open access
Semantic Scholar
Standardization of diethylnitrosamine-induced hepatocellular carcinoma rat model with time based molecular assessment.
H. Ghufran, M. Azam, A. Mehmood, H. Butt +1 more
2021Experimental and molecular pathology (Print)24 citations
Semantic Scholar
Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts
S. Rowan, Shu-Hong Jiang, Sarah G. Francisco, L. C. Pomatto +13 more
2021Investigative Ophthalmology and Visual Science24 citations Open access
Semantic Scholar
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness
R. Tona, I. Lopez, C. Fenollar-Ferrer, R. Faridi +11 more
2020Genes23 citations Open access
Semantic Scholar
Curcumin preconditioned human adipose derived stem cells co-transplanted with platelet rich plasma improve wound healing in diabetic rats.
H. Ghufran, A. Mehmood, M. Azam, H. Butt +5 more
2020Life Science23 citations
Semantic Scholar
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Anil Chekuri, Aditya A. Guru, P. Biswas, K. Branham +16 more
2018Human Genetics23 citations Open access
Semantic Scholar
Proteome Profiling of Developing Murine Lens Through Mass Spectrometry
Shahid Y. Khan, M. Ali, Firoz Kabir, S. Renuse +4 more
2018Investigative Ophthalmology and Visual Science23 citations Open access
Semantic Scholar
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment
Zubair M. Ahmed, T. Jaworek, Gowri N Sarangdhar, Li-Li Zheng +7 more
2018Journal of Medical Genetics23 citations Open access
Semantic Scholar
Vitamin E pretreated Wharton's jelly-derived mesenchymal stem cells attenuate CCl4-induced hepatocyte injury in vitro and liver fibrosis in vivo.
Maria Tayyab Baig, H. Ghufran, A. Mehmood, M. Azam +2 more
2021Biochemical Pharmacology22 citations
Semantic Scholar
Screening, diagnosis and genetic study of breast cancer patients in Pakistan
A. Majeed, A. Ullah, M. Jadoon, W. Ahmad +1 more
2019Pakistan Journal of Medical Sciences20 citations Open access
Semantic Scholar
Human neonatal stem cell‐derived skin substitute improves healing of severe burn wounds in a rat model
Ruhma Mahmood, A. Mehmood, Mahmood S. Choudhery, S. Awan +2 more
2019Cell Biology International18 citations Open access
Semantic Scholar
Mutations in FYCO1 identified in families with congenital cataracts
Hira Iqbal, S. Y. Khan, Lin Zhou, Bushra Irum +8 more
2020Molecular Vision17 citations
Semantic Scholar
A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI)
E. M. Andres, Huma Hafeez, Adnan Yousaf, S. Riazuddin +3 more
2019European Journal of Human Genetics17 citations Open access
Semantic Scholar
Priming with caffeic acid enhances the potential and survival ability of human adipose-derived stem cells to counteract hypoxia
H. M. S. U. Haq, Ramla Ashfaq, A. Mehmood, Wardah Shahid +6 more
2023Regenerative Therapy15 citations Open access
Semantic Scholar
Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies
M. Ali, Firoz Kabir, Jason J. Thomson, Yinghong Ma +4 more
2019Scientific Reports15 citations Open access
Semantic Scholar
A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa
Ya-Bin Chen, Li Huang, Xiao-Dong Jiao, S. Riazuddin +2 more
2018Human Genomics15 citations Open access
Semantic Scholar
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
A. Ghaffar, Tehmeena Akhter, Petter Strømme, D. Misceo +18 more
2024Communications Biology13 citations Open access
Semantic Scholar
Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma
Bushra Rauf, Bushra Irum, S. Y. Khan, Firoz Kabir +4 more
2020Molecular Vision13 citations
Semantic Scholar
Hydrogel patch with pretreated stem cells accelerates wound closure in diabetic rats.
Anisa Andleeb, A. Mehmood, Muhammad Tariq, H. Butt +7 more
2022Biomaterials Advances12 citations
Semantic Scholar
Development of NSAID-loaded nano-composite scaffolds for skin tissue engineering applications.
Mubashra Zehra, A. Mehmood, Muhammad Yar, L. Shahzadi +1 more
2020Journal of Biomedical Materials Research. Part B - Applied biomaterials12 citations
Semantic Scholar
Modulating EGFR-MTORC1-autophagy as a potential therapy for persistent fetal vasculature (PFV) disease
M. Yazdankhah, P. Shang, Sayan Ghosh, I. Bhutto +12 more
2020Autophagy12 citations Open access
Semantic Scholar
Vitamin E preconditioning alleviates in vitro thermal stress in cultured human epidermal keratinocytes.
H. Butt, A. Mehmood, Muhammad Ali, Saba Tasneem +2 more
2019Life Science12 citations
Semantic Scholar
Dual AAV based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.
Sehar Riaz, Saumil Sethna, T. Duncan, M. Naeem +5 more
2023Molecular Therapy11 citations Open access
Semantic Scholar
Alpha lipoic acid priming enhances the hepatoprotective effect of adipose derived stem cells in CCl4 induced hepatic injury in-vitro.
Faiza Yaqub, N. Latief, H. Butt, N. Naseer +1 more
2021European Journal of Pharmacology10 citations
Semantic Scholar
Epigallocatechin-3-gallate protects Wharton's jelly derived mesenchymal stem cells against in vitro heat stress.
H. Butt, A. Mehmood, A. Ejaz, Shamsa Humayun +1 more
2020European Journal of Pharmacology10 citations
Semantic Scholar
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
A. Ghaffar, F. Rasheed, Muhammad Rashid, H. van Bokhoven +3 more
2021European Journal of Human Genetics9 citations Open access
Semantic Scholar
Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach
S. Y. Khan, M. Ali, Yu-Jung Jang, Taekyung Ryu +6 more
2021Scientific Reports9 citations Open access
Semantic Scholar
Human amniotic membrane as differentiating matrix for in vitro chondrogenesis.
N. Naseer, Saliha Bashir, N. Latief, Farzana Latif +2 more
2018Regenerative medicine9 citations
Semantic Scholar
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
S. Riazuddin, I. Belyantseva, A. Giese, Kwanghyuk Lee +27 more
2025Nature Genetics8 citations
Semantic Scholar
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy
R. Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki +23 more
2023Clinical Genetics8 citations Open access
Semantic Scholar
Tumoricidal effects of unprimed and curcumin-primed adipose-derived stem cells on human hepatoma HepG2 cells under oxidative conditions.
H. Ghufran, M. Azam, A. Mehmood, Ramla Ashfaq +4 more
2022Tissue & Cell8 citations
Semantic Scholar
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes
M. Ali, S. Y. Khan, T. Rodrigues, T. Francisco +21 more
2021Human Genetics8 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

S. Riazuddin×13
Invite
S. Riazuddin — researcher profile on SciRah
A. Mehmood×13
Invite
A. Mehmood — researcher profile on SciRah
Zubair M. Ahmed×10
Invite
Zubair M. Ahmed — researcher profile on SciRah
M. Ali×10
Invite
M. Ali — researcher profile on SciRah

×8

Invite

H. Butt — researcher profile on SciRah

Invite

S. Y. Khan — researcher profile on SciRah

Invite

M. Shahzad — researcher profile on SciRah

Invite

T. Friedman — researcher profile on SciRah

Invite

M. Azam — researcher profile on SciRah

Invite

H. Ghufran — researcher profile on SciRah

Invite

Firoz Kabir — researcher profile on SciRah

J. Hejtmancik×6

Invite

J. Hejtmancik — researcher profile on SciRah