Saima Riazuddin

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 18

Top Venues

Nature medicine

Communications biology

European journal of human genetics : EJHG

Human mutation

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

Publications

Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Communications biology 7 (1) (2024)
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Communications biology 7 (1) (2024)
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Communications biology 7 (1) (2024)
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Communications biology 7 (1) (2024)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 29 (3) (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 29 (3) (2023)
Daniel Greene, null null, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 29 (3) (2023)
Umair Mahmood, Shazia Anwer Bukhari, Muhammad Ali, Zubair M Ahmed, Saima Riazuddin
Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families. BioMed research international 2021 (2021)
Thashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, Khurram Liaqat, Anushree Acharya, Arnaud P J Giese, Liz M Nouel-Saied, Abdul Nasir, Jenna L Everard, Lana M Pollock, Shaoyuan Zhu, Michael J Bamshad, Deborah A Nickerson, Raja Hussain Ali, Asmat Ullah, Abdul Wali, Ghazanfar Ali, Regie Lyn P Santos-Cortez, Zubair M Ahmed, Brian M McDermott, Muhammad Ansar, Saima Riazuddin, Wasim Ahmad, Regie Lyn P Santos-Cortez
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. European journal of human genetics : EJHG (2021)
Saumil Sethna, Patrick A Scott, Arnaud P J Giese, Todd Duncan, Xiaoying Jian, Sheikh Riazuddin, Paul A Randazzo, T Michael Redmond, Steven L Bernstein, Saima Riazuddin, Zubair M Ahmed
CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function. Nature communications 12 (1) (2021)
Amama Ghaffar, Faiza Rasheed, Muhammad Rashid, Hans van Bokhoven, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability. European journal of human genetics : EJHG (2021)
Marcello Scala, Geok Lin Chua, Cheen Fei Chin, Hessa S Alsaif, Artem Borovikov, Saima Riazuddin, Sheikh Riazuddin, M Chiara Manzini, Mariasavina Severino, Alvin Kuk, Hao Fan, Yalda Jamshidi, Mehran Beiraghi Toosi, Mohammad Doosti, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Elena Dadali, Galina Baydakova, Fedor A Konovalov, Ekaterina Lozier, Emer O'Connor, Yasser Sabr, Abdullah Alfaifi, Farah Ashrafzadeh, Pasquale Striano, Federico Zara, Fowzan Sami Alkuraya, Henry Houlden, Reza Maroofian, David L Silver
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. European journal of human genetics : EJHG 28 (11) (2020)
Shahid Y Khan, Muhammad Ali, Mei-Chong W Lee, Zhiwei Ma, Pooja Biswas, Asma A Khan, Muhammad Asif Naeem, Saima Riazuddin, Sheikh Riazuddin, Radha Ayyagari, James Fielding Hejtmancik, S Amer Riazuddin
Whole genome sequencing data of multiple individuals of Pakistani descent. Scientific data 7 (1) (2020)
Eric D Larson, Jose Pedrito M Magno, Matthew J Steritz, Erasmo Gonzalo D V Llanes, Jonathan Cardwell, Melquiadesa Pedro, Tori Bootpetch Roberts, Elisabet Einarsdottir, Rose Anne Q Rosanes, Christopher Greenlee, Rachel Ann P Santos, Ayesha Yousaf, Sven-Olrik Streubel, Aileen Trinidad R Santos, Amanda G Ruiz, Sheryl Mae Lagrana-Villagracia, Dylan Ray, Talitha Karisse L Yarza, Melissa A Scholes, Catherine B Anderson, Anushree Acharya, null null, Samuel P Gubbels, Michael J Bamshad, Stephen P Cass, Nanette R Lee, Rehan S Shaikh, Deborah A Nickerson, Karen L Mohlke, Jeremy D Prager, Teresa Luisa G Cruz, Patricia J Yoon, Generoso T Abes, David A Schwartz, Abner L Chan, Todd M Wine, Eva Maria Cutiongco-de la Paz, Norman Friedman, Katerina Kechris, Juha Kere, Suzanne M Leal, Ivana V Yang, Janak A Patel, Ma Leah C Tantoco, Saima Riazuddin, Kenny H Chan, Petri S Mattila, Maria Rina T Reyes-Quintos, Zubair M Ahmed, Herman A Jenkins, Tasnee Chonmaitree, Lena Hafrén, Charlotte M Chiong, Regie Lyn P Santos-Cortez
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Human mutation 40 (8) (2019)
Rizwan Yousaf, Chunfang Gu, Zubair M Ahmed, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin, Stephen B Shears, Saima Riazuddin
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. PLoS genetics 14 (3) (2018)
Elodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, Kwanghyuk Lee, Mohsin Shahzad, Anushree Acharya, Asma A Khan, Ayesha Imtiaz, Imen Chakchouk, Christina Takla, Izoduwa Abbe, Maria Rafeeq, Khurram Liaqat, Taimur Chaudhry, Michael J Bamshad, Deborah A Nickerson, null null, Isabelle Schrauwen, Shaheen N Khan, Robert J Morell, Saba Zafar, Muhammad Ansar, Zubair M Ahmed, Wasim Ahmad, Sheikh Riazuddin, Thomas B Friedman, Regie Lyn P Santos-Cortez, Saima Riazuddin
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Human mutation 40 (1) (2018)
Khujista Haque, Atul K Pandey, Hong-Wei Zheng, Saima Riazuddin, Su-Hua Sha, Chandrakala Puligilla
MEKK4 Signaling Regulates Sensory Cell Development and Function in the Mouse Inner Ear. The Journal of neuroscience : the official journal of the Society for Neuroscience 36 (4) (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Saima Riazuddin