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Saima Riazuddin

13PUBLICATIONS

42CO-AUTHORS

Medical infection agents (incl. prions)Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Molecular targets

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Publications (13)

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|Aug 19, 2025

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

Gowri Nayak, Elodie M Richard, Byung Cheon Lee

|Jul 08, 2024

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

Amama Ghaffar, Tehmeena Akhter, Petter Strømme

|Mar 17, 2023

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

Daniel Greene, Daniela Pirri, Karen Frudd

|Nov 09, 2021

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

Amama Ghaffar, Faiza Rasheed, Muhammad Rashid

|Jun 24, 2021

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

Saumil Sethna, Patrick A Scott, Arnaud P J Giese

|Jun 17, 2021

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

Thashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman

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Frequent Collaborators

3 joint publications

Zubair M Ahmed

2 joint publications

Thomas B Friedman

2 joint publications

Suzanne M Leal

2 joint publications

Regie Lyn P Santos-Cortez

1 joint publications

Chandrakala Puligilla

1 joint publications

Rizwan Yousaf

1 joint publications

Rabia Faridi

1 joint publications

Marcello Scala

1 joint publications

Yalda Jamshidi

1 joint publications

Fedor Konovalov

Frequent Collaborators

3 joint publications

Zubair M Ahmed

2 joint publications

Thomas B Friedman

2 joint publications

Suzanne M Leal

2 joint publications

Regie Lyn P Santos-Cortez

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