Saima Riazuddin

Also affiliated with University of the Punjab, Centre of Excellence in Molecular Biology

NeuroscienceBiochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 3%percentile

1.8Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Nature Medicine(2023)10.1038/s41591-023-02211-z

Top 12%

1.8DataRank

Top 12%81 citations

Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al‐Owain, Arnaud P. J. Giese +28 more

Papers

Driven by 28 papers — median percentile 88. Top paper: “Genetic association analysis of 77,539 genomes reveals rare disease etiologies”.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Nature Medicine(2023)10.1038/s41591-023-02211-z

Top 12%

1.8DataRank

Top 12%81 citations

Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al‐Owain, Arnaud P. J. Giese +28 more

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

BMC Medical Genetics(2004)10.1186/1471-2350-5-24

N/A

0.550DataRank · unranked

38 citations

Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-Lynn Young, Khushnooda Ramzan +12 more

Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels

eLife(2023)10.7554/elife.89719

N/A

0.536DataRank · unranked

14 citations

Wei-Hsiang Weng, Katie S. Kindt, Hui Ho Vanessa Chang, Jonathan S. Montgomery, Evan M. Ratzan +12 more

Syntaxin 4 is essential for hearing in human and zebrafish

Human Molecular Genetics(2022)10.1093/hmg/ddac257

N/A

0.208DataRank · unranked

3 citations

Amama Ghaffar, Thashi Bharadwaj, Khadim Shah, Sakina Rehman, Anushree Acharya +9 more

Loss of CIB2 causes non-canonical autophagy deficits and visual impairment

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.09.18.302174

N/A

0DataRank · unranked

2 citations

Patrick A. Scott, Arnaud P. J. Giese, Todd Duncan, T. Michael Redmond, Saima Riazuddin +2 more

CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function

Nature Communications(2021)10.1038/s41467-021-24056-1

N/A

0DataRank · unranked

49 citations

Patrick A. Scott, Arnaud P. J. Giese, Todd Duncan, Xiaoying Jian, Sheikh Riazuddin +6 more

Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

eLife(2021)10.7554/elife.67361

N/A

0DataRank · unranked

20 citations

Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan +8 more

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

European Journal of Human Genetics(2021)10.1038/s41431-021-00913-x

N/A

0DataRank · unranked

15 citations

Isabelle Schrauwen, Sakina Rehman, Khurram Liaqat, Anushree Acharya, Arnaud P. J. Giese +19 more

[Retracted] Identification of Hearing Loss‐Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families

BioMed Research International(2021)10.1155/2021/5584788

N/A

0DataRank · unranked

13 citations

Shazia Anwer Bukhari, Muhammad Ali, Zubair M. Ahmed, Saima Riazuddin, Umair Mahmood

Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability

European Journal of Human Genetics(2021)10.1038/s41431-021-00968-w

N/A

0DataRank · unranked

11 citations

Faiza Rasheed, Muhammad Rashid, Hans van Bokhoven, Zubair M. Ahmed, Sheikh Riazuddin +2 more

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.02.001

N/A

0DataRank · unranked

48 citations

Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard +32 more

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

European Journal of Human Genetics(2020)10.1038/s41431-020-0669-x

N/A

0DataRank · unranked

36 citations

Geok Lin Chua, Cheen Fei Chin, Hessa S. Alsaif, Artem Borovikov, Saima Riazuddin +25 more

Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F

Molecular Therapy(2023)10.1016/j.ymthe.2023.10.017

N/A

0DataRank · unranked

15 citations

Saumil Sethna, Todd Duncan, Muhammad Azhar Naeem, T. Michael Redmond, Sheikh Riazuddin +4 more

Issue Information

Human Mutation(2018)10.1002/humu.23568

N/A

0DataRank · unranked

0 citations

R. Donald Harvey, Tracy Dudding‐Byth, Liliana Catherine Patiño, Isabelle Beau, Adrien Morel +135 more

Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.26.542533

N/A

0DataRank · unranked

10 citations

Wei-Hsiang Weng, Katie S. Kindt, Hui Ho Vanessa Chang, Jonathan S. Montgomery, Evan M. Ratzan +12 more

Calcium and Integrin-binding protein 2 (CIB2) controls force sensitivity of the mechanotransducer channels in cochlear outer hair cells

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.07.09.545606

N/A

0DataRank · unranked

3 citations

Abigail K. Dragich, Arnaud P. J. Giese, Karen Sofia Zuluaga-Osorio, Julie Watkins, G. Davies +6 more

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Communications Biology(2024)10.1038/s42003-024-06466-1

N/A

0DataRank · unranked

12 citations

Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen +17 more

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

medRxiv(2024)10.1101/2024.10.10.24315152

N/A

0DataRank · unranked

2 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +26 more

CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.07.30.605852

N/A

0DataRank · unranked

0 citations

Andrew Parker, Sakina Rehman, Steve D. M. Brown, Saima Riazuddin, Craig W. Vander Kooi +3 more

Reviewer #1 (Public Review): Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels

(2024)10.7554/elife.89719.2.sa2

N/A

0DataRank · unranked

0 citations

Wei-Hsiang Weng, Katie S Kindt, Hui Ho Vanessa Chang, Jonathan S Montgomery, Evan M Ratzan +12 more

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.005

N/A

0DataRank · unranked

7 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +41 more

A Novel SLPI Splice Variant Confers Susceptibility to Otitis Media in Humans

International Journal of Molecular Sciences(2025)10.3390/ijms26041411

N/A

0DataRank · unranked

1 citations

Allen F. Ryan, Talitha Karisse L. Yarza, Amama Ghaffar, Erasmo Gonzalo D.V. Llanes, Jennifer M. Kofonow +10 more

MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity

Disease Models & Mechanisms(2025)10.1242/dmm.052194

N/A

0DataRank · unranked

1 citations

Élodie M. Richard, Byung Cheon Lee, Gavin P. Riordan, Inna A. Belyantseva, Bruno Manta +4 more

Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Nature Genetics(2025)10.1038/s41588-025-02332-w

N/A

0DataRank · unranked

1 citations

Inna A. Belyantseva, Arnaud P. J. Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri +26 more

Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels

eLife(2025)10.7554/elife.89719.3

N/A

0DataRank · unranked

0 citations

Wei-Hsiang Weng, Katie S. Kindt, Hui Ho Vanessa Chang, Jonathan S. Montgomery, Evan M. Ratzan +12 more

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models

Genetics in Medicine(2025)10.1016/j.gim.2025.101625

N/A

0DataRank · unranked

0 citations

Zubair M. Ahmed, Yaping Ji, Axel Schmidt, Meron Azage, María Palomares‐Bralo +10 more

Multi-omic studies on missense PLG variants in families with otitis media

Scientific Reports(2020)10.1038/s41598-020-70498-w

N/A

0DataRank · unranked

8 citations

Lena Hafrén, Christina L. Elling, Erin E. Baschal, Ani Manichaikul, Harold S. Pine +30 more

Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss

Molecular Biology Reports(2020)10.1007/s11033-020-06016-y

N/A

0DataRank · unranked

4 citations

Shazia Anwer Bukhari, Sakina Rehman, Muhammad Qasim, Muhammad Ali, Saima Riazuddin +2 more

Saima Riazuddin

Indexed papers

Top data-sharing exemplar

Papers