Publications by authors named "Saima Riazuddin"

100Publications

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

Mol Biol Rep 2020 Dec 24;47(12):9987-9993. Epub 2020 Nov 24.

Department of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.

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December 2020

Novel Mutations in , , , and Identified in Familial Cases of Prelingual Hearing Loss.

Genes (Basel) 2020 Aug 22;11(9). Epub 2020 Aug 22.

Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.

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August 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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August 2020

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.

Hum Genet 2020 Dec 19;139(12):1565-1574. Epub 2020 Jun 19.

Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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December 2020

Retraction notice to "PP2ACα deficiency impairs early cortical development through inducing DNA damage in neuroprojenitor cells" [Int. J. Biochem. Cell Biol. 109C (2019) 40-58].

Int J Biochem Cell Biol 2020 08 10;125:105762. Epub 2020 Jun 10.

National Institute of Neurological Disorders and Stroke, National Institute of Heath, Bethesda, USA. Electronic address:

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August 2020

Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology.

Front Genet 2020 23;11:313. Epub 2020 Apr 23.

Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD, United States.

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April 2020

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.

Pigment Cell Melanoma Res 2020 07 27;33(4):556-565. Epub 2020 Apr 27.

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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July 2020

Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.

Genes (Basel) 2019 12 10;10(12). Epub 2019 Dec 10.

Department of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA.

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December 2019

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.

Invest Ophthalmol Vis Sci 2019 11;60(14):4811-4819

Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine University of Maryland, Baltimore, Maryland, United States.

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November 2019

PP2ACα deficiency impairs early cortical development through inducing DNA damage in neuroprojenitor cells.

Int J Biochem Cell Biol 2019 04 30;109:40-58. Epub 2019 Jan 30.

National Institute of Neurological Disorders and Stroke, National Institute of Heath, Bethesda, USA. Electronic address:

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April 2019