Kimia Kahrizi (K Kahrizi)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 27

Top Topics

Intellectual Disability

Polycystic Kidney Disease

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Archives of Iranian medicine

Molecular genetics & genomic medicine

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

Publications

Sepideh Mehvari, Nahid Karimian Fathi, Sara Saki, Maryam Asadnezhad, Sanaz Arzhangi, Fatemeh Ghodratpour, Marzieh Mohseni, Farzane Zare Ashrafi, Saeed Sadeghian, Mohammadali Boroumand, Fatemeh Shokohizadeh, Elham Rostami, Rahnama Boroumand, Reza Najafipour, Reza Malekzadeh, Yasser Riazalhosseini, Mohammadreza Akbari, Mark Lathrop, Hossein Najmabadi, Kaveh Hosseini, Kimia Kahrizi
Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients. Clinical genetics 105 (6) (2024)
Sepideh Mehvari, Nahid Karimian Fathi, Sara Saki, Maryam Asadnezhad, Sanaz Arzhangi, Fatemeh Ghodratpour, Marzieh Mohseni, Farzane Zare Ashrafi, Saeed Sadeghian, Mohammadali Boroumand, Fatemeh Shokohizadeh, Elham Rostami, Rahnama Boroumand, Reza Najafipour, Reza Malekzadeh, Yasser Riazalhosseini, Mohammadreza Akbari, Mark Lathrop, Hossein Najmabadi, Kaveh Hosseini, Kimia Kahrizi
Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients. Clinical genetics (2024)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Farzane Zare Ashrafi, Tara Akhtarkhavari, Zohreh Fattahi, Maryam Asadnezhad, Maryam Beheshtian, Sanaz Arzhangi, Hossein Najmabadi, Kimia Kahrizi
Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort. Archives of Iranian medicine 26 (4) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Farzane Zare Ashrafi, Tara Akhtarkhavari, Zohreh Fattahi, Maryam Asadnezhad, Maryam Beheshtian, Sanaz Arzhangi, Hossein Najmabadi, Kimia Kahrizi
Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort. Archives of Iranian medicine 26 (4) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Farzane Zare Ashrafi, Tara Akhtarkhavari, Zohreh Fattahi, Maryam Asadnezhad, Maryam Beheshtian, Sanaz Arzhangi, Hossein Najmabadi, Kimia Kahrizi
Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort. Archives of Iranian medicine 26 (4) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Fereshteh Jamshidi, Ebrahim Shokouhian, Marzieh Mohseni, Kimia Kahrizi, Hossein Najmabadi, Mojgan Babanejad
Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review. Molecular genetics & genomic medicine (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Meysam Mosallaei, Naeim Ehtesham, Maryam Beheshtian, Shahrouz Khoshbakht, Behzad Davarnia, Kimia Kahrizi, Hossein Najmabadi
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients. Molecular genetics & genomic medicine 10 (4) (2022)
Maryam Hosseinpour, Fariba Ardalani, Marzieh Mohseni, Maryam Beheshtian, Sanaz Arzhangi, Shahrzad Ossareh, Hossein Najmabadi, Ali Nobakht, Kimia Kahrizi, Behrooz Broumand
Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease. Archives of Iranian medicine 25 (9) (2022)
Marzieh Mohseni, Mojgan Babanejad, Kevin T Booth, Payman Jamali, Khadijeh Jalalvand, Behzad Davarnia, Fariba Ardalani, Atefeh Khoshaeen, Sanaz Arzhangi, Fatemeh Ghodratpour, Maryam Beheshtian, Faezeh Jahanshad, Hasan Otukesh, Fatemeh Bahrami, Seyed Morteza Seifati, Niloofar Bazazzadegan, Farkhonde Habibi, Hanieh Behravan, Sepide Mirzaei, Fatemeh Keshavarzi, Nooshin Nikzat, Zohreh Mehrjoo, Holger Thiele, Michael Nothnagel, Hela Azaiez, Richard J H Smith, Kimia Kahrizi, Hossein Najmabadi
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran. Clinical genetics 100 (1) (2021)
Sara Taghizadeh, Raheleh Vazehan, Maryam Beheshtian, Farnaz Sadeghinia, Zohreh Fattahi, Marzieh Mohseni, Sanaz Arzhangi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi, Kimia Kahrizi
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum. Archives of Iranian medicine 23 (7) (2020)
Maryam Beheshtian, Tara Akhtarkhavari, Sepideh Mehvari, Marzieh Mohseni, Zohreh Fattahi, Seyedeh Sedigheh Abedini, Sanaz Arzhangi, Mahsa Fadaee, Payman Jamali, Reza Najafipour, Vera M Kalscheuer, Hao Hu, Hans-Hilger Ropers, Hossein Najmabadi, Kimia Kahrizi
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clinical genetics 99 (1) (2020)
Sepideh Mehvari, Farzaneh Larti, Hao Hu, Zohreh Fattahi, Maryam Beheshtian, Seyedeh Sedigheh Abedini, Sanaz Arzhangi, Hans-Hilger Ropers, Vera M Kalscheuer, Daniel Auld, Kimia Kahrizi, Yasser Riazalhosseini, Hossein Najmabadi
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular genetics & genomic medicine 8 (10) (2020)
Maryam Beheshtian, Zohreh Fattahi, Mahsa Fadaee, Raheleh Vazehan, Payman Jamali, Elham Parsimehr, Mahboubeh Kamgar, Mehrshid Faraji Zonooz, Shokouh Sadat Mahdavi, Zahra Kalhor, Sanaz Arzhangi, Seyedeh Sedigheh Abedini, Farahnaz Sabbagh Kermani, Faezeh Mojahedi, Vera M Kalscheuer, Hans-Hilger Ropers, Ariana Kariminejad, Hossein Najmabadi, Kimia Kahrizi
Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families. Clinical genetics 95 (6) (2019)
Kimia Kahrizi, Mareike Huber, Danuta Galetzka, Sri Dewi, Julia Schröder, Eva Weis, Ariana Kariminejad, Zoherh Fattahi, Hans-Hilger Ropers, Susann Schweiger, Hossein Najmabadi, Jennifer Winter
Homozygous variants in the gene SCAPER cause syndromic intellectual disability. American journal of medical genetics. Part A 179 (7) (2019)
Kevin T A Booth, Kimia Kahrizi, Hossein Najmabadi, Hela Azaiez, Richard J H Smith
Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. Journal of medical genetics 55 (8) (2018)
Kevin T A Booth, Hela Azaiez, Kimia Kahrizi, Donghong Wang, Yuzhou Zhang, Kathy Frees, Carla Nishimura, Hossein Najmabadi, Richard J H Smith
Exonic mutations and exon skipping: Lessons learned from DFNA5. Human mutation 39 (3) (2018)
Kevin T A Booth, Kimia Kahrizi, Mojgan Babanejad, H Daghagh, Güney Bademci, S Arzhangi, D Zareabdollahi, Duygu Duman, Aziz El-Amraoui, Mustafa Tekin, Hossein Najmabadi, Hela Azaiez, Richard J H Smith
Variants in CIB2 cause DFNB48 and not USH1J. Clinical genetics 93 (4) (2018)
Masoumeh Hosseini, Zohreh Fattahi, Seyedeh Sedigheh Abedini, Hao Hu, Hans-H Ropers, Vera M Kalscheuer, Hossein Najmabadi, Kimia Kahrizi
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. American journal of medical genetics. Part A 179 (1) (2018)