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Zahra Firoozfar

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
2024 · Daniel G. Calame, Jovi Huixin Wong, et al. · Genetics in Medicine · 14
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Autosomal recessive VWA1 -related disorder: comprehensive analysis of phenotypic variability and genetic mutations
2024 · Sara Nagy, Alistair T Pagnamenta, et al. · Brain Communications · 10
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
2022 · Elisa Cali, Mohnish Suri, et al. · Genetics in Medicine · 9
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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
2023 · Henrike L. Sczakiel, Max Zhao, et al. · European Journal of Human Genetics · 8
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
2024 · Elisa Cali, Tania Quirin, et al. · Genetics in Medicine · 5
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
2024 · Daniel G. Calame, Jovi Huixin Wong, et al. · medRxiv · 3
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Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder
2026 · Lauretta El Hayek, Ashlesha Gogate, et al. · Human Genetics and Genomics Advances · 2
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly
2026 · Francesca Clementina Radio, Giorgio Tasca, et al. · Genetics in Medicine · 1
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
2026 · Heba Morsy, Hyeonho Kim, et al. · The American Journal of Human Genetics · 1
Understanding local population genetics improves variant interpretation in rare genetic disorders
2025 · Shahryar Alavi, Zahra Firoozfar, et al. · Research Square · 1
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Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration
2026 · Stephanie Efthymiou, Keisuke Tabata, et al. · medRxiv
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia
2026 · Seval Kılıç, Kerem Esmen, et al. · Genes
Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families
2026 · Atefeh Davarzani, Moez Ravanbod, et al. · Orphanet Journal of Rare Diseases
Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families
2026 · Atefeh Davarzani, Moez Ravanbod, et al. · Figshare
Additional file 3 of Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families
2026 · Atefeh Davarzani, Moez Ravanbod, et al. · Figshare
Additional file 5 of Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families
2026 · Atefeh Davarzani, Moez Ravanbod, et al. · Figshare
Additional file 1 of Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families
2026 · Atefeh Davarzani, Moez Ravanbod, et al. · Figshare
Additional file 4 of Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families
2026 · Atefeh Davarzani, Moez Ravanbod, et al. · Figshare
Additional file 2 of Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families
2026 · Atefeh Davarzani, Moez Ravanbod, et al. · Figshare
Biallelic ACER3 Variants Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Leukodystrophy
2026 · Rauan B. Kaiyrzhanov, Ruijuan Xu, et al. · SSRN Electronic Journal
Works count: 22
Citation count: 54
H-index: 5
I10-index: 2
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