Sadaf Naz

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 28

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Dna Methylation

Top Venues

Journal of medical genetics

Scientific reports

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

Publications

Anum Shafique, Ayesha Nadeem, Faiza Aslam, Humera Manzoor, Muhammad Noman, Elizabeth S Wohler, P Dane Witmer, Nara Lygia de Macena Sobreira, Sadaf Naz
Identification and analyses of exonic and copy number variants in spastic paraplegia. Scientific reports 14 (1) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics 143 (3) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics 143 (3) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics 143 (3) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics 143 (3) (2024)
Anum Shafique, Ayesha Nadeem, Faiza Aslam, Humera Manzoor, Muhammad Noman, Elizabeth S Wohler, P Dane Witmer, Nara Lygia de Macena Sobreira, Sadaf Naz
Identification and analyses of exonic and copy number variants in spastic paraplegia. Scientific reports 14 (1) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics (2024)
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth S Wohler, Nara Sobreira, Bo Man Ho, Guy L J Chen, Wai-Kit Chu, Rasheeda Bashir
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14 (2) (2023)
Humera Manzoor, Hafsa Zahid, Christopher A Emerling, Kishore Raj Kumar, Hafiz Muhammad Jafar Hussain, Go Hun Seo, Muhammad Wajid, Sadaf Naz
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans. European journal of human genetics : EJHG (2023)
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth S Wohler, Nara Sobreira, Bo Man Ho, Guy L J Chen, Wai-Kit Chu, Rasheeda Bashir
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14 (2) (2023)
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth S Wohler, Nara Sobreira, Bo Man Ho, Guy L J Chen, Wai-Kit Chu, Rasheeda Bashir
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14 (2) (2023)
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth S Wohler, Nara Sobreira, Bo Man Ho, Guy L J Chen, Wai-Kit Chu, Rasheeda Bashir
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14 (2) (2023)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1 , A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss. medRxiv : the preprint server for health sciences (2023)
Humera Manzoor, Hafsa Zahid, Christopher A Emerling, Kishore Raj Kumar, Hafiz Muhammad Jafar Hussain, Go Hun Seo, Muhammad Wajid, Sadaf Naz
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans. European journal of human genetics : EJHG (2023)
Ambreen Kanwal, Sohail A Sheikh, Faiza Aslam, Samina Yaseen, Zachary Beetham, Nathan Pankratz, Connie R Clabots, Sadaf Naz, José V Pardo
Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 ( USP53 ) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions. Genes 14 (10) (2023)
Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth S Wohler, Nara Sobreira, Bo Man Ho, Guy L J Chen, Wai-Kit Chu, Rasheeda Bashir
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14 (2) (2023)
Anum Shafique, Beenish Arif, Mary Lynn Chu, Ellen Moran, Tooba Hussain, Francisca Millan Zamora, Elizabeth Wohler, Nara Sobreira, Christine Klein, Katja Lohmann, Sadaf Naz
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity. Journal of medical genetics (2022)
Samina Yasin, Outi Makitie, Sadaf Naz
Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report. BMC musculoskeletal disorders 22 (1) (2021)
Sadaf Naz
Molecular genetic landscape of hereditary hearing loss in Pakistan. Human genetics (2021)
Rabia Faridi, Alessandro Rea, Cristina Fenollar-Ferrer, Raymond T O'Keefe, Shoujun Gu, Zunaira Munir, Asma Ali Khan, Sheikh Riazuddin, Michael Hoa, Sadaf Naz, William G Newman, Thomas B Friedman
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Human genetics (2021)
Memoona Ramzan, Christophe Philippe, Inna A Belyantseva, Yoko Nakano, Cristina Fenollar-Ferrer, Risa Tona, Rizwan Yousaf, Rasheeda Bashir, Ayesha Imtiaz, Rabia Faridi, Zunaira Munir, Hafiza Idrees, Midhat Salman, Sophie Nambot, Antonio Vitobello, Souad Kartti, Oumaima Zarrik, P Dane Witmer, Nara Lygia de Macena Sobreira, Azeddine Ibrahimi, Botond Banfi, Sebastien Moutton, Thomas B Friedman, Sadaf Naz
Variants of human CLDN9 cause mild to profound hearing loss. Human mutation 42 (10) (2021)
Noor U Ain, Niaz Muhammad, Mehdi Dianatpour, Marta Baroncelli, Muddassar Iqbal, Mohammad A F Fard, Ihtisham Bukhari, Sufian Ahmed, Massoumeh Hajipour, Zahra Tabatabaie, Hamidreza Foroutan, Ola Nilsson, Mohammad A Faghihi, Outimaija Mäkitie, Sadaf Naz
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. Human mutation 42 (1) (2020)
Arisha Rasheed, Evren Gumus, Maha Zaki, Katherine Johnson, Humera Manzoor, Geneva LaForce, Danica Ross, Jennifer McEvoy-Venneri, Valentina Stanley, Sangmoon Lee, Abbir Virani, Tawfeg Ben-Omran, Joseph G Gleeson, Sadaf Naz, Ashleigh E Schaffer
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. Journal of medical genetics 58 (4) (2020)
Noor Ul Ain, Marta Baroncelli, Alice Costantini, Tayyaba Ishaq, Fulya Taylan, Ola Nilsson, Outi Mäkitie, Sadaf Naz
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1. Journal of medical genetics 58 (5) (2020)
Sadaf Naz, Thomas B Friedman
Growth factor and receptor malfunctions associated with human genetic deafness. Clinical genetics 97 (1) (2019)