Alireza Khajehmirzaei
Research Subjects
Alireza Khajehmirzaei has a total of 56 co-authors. Here are the top co-authors by number of shared publications:
- Abbas Tafakhori
Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran
1 shared publication - Anjali Revanur-Paul
Seattle Children’s Hospital, Seattle, USA
1 shared publication - Azadeh Ahmadifard
Department of Biotechnology, Faculty of Medicine, Lorestan University of Medical Sciences
1 shared publication - Bader Alhaddad
Institute of Human Genetics, Technische Universität München, Munich, Germany
1 shared publication - Benjamin Dauriat
Department of Medical Genetics, Cytogenetics, and Reproductive Biology, Centre Hospitalier Universitaire (CHU) de Limoges
1 shared publication - Boyang Li
Department of Biostatistics, Yale School of Public Health
1 shared publication
Latest Publications
- Open Access
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy
Cerebral palsy (CP) is a neurodevelopmental disorder of motor function, with genetic etiologies, particularly de novo variants, identified in approximately one-third of cases. The contribution of consanguinity – long-recognized as a CP risk factor – has remained undefined. Here, we report findings from 188 primarily consanguineous Middle Eastern families with CP and identified putative causative genes in nearly three-quarters. The majority demonstrated recessive inheritance, although multi-level consanguinity and multilocus pathogenic variants complicated Mendelian assortment analyses. We identified 110 known CP-associated genes – five with phenotypic expansions and three others exhibiting new recessive inheritance patterns – and 24 novel candidates. We characterized ten candidates as high-confidence based on independent replication and protein modeling. We experimentally validated a role for SUCO variants in CP and newly identified a role for mid-gestational migrating excitatory neurons in the disorder. These findings highlight new genes, pathways, and phenotypes that reveal striking genomic diversity in CP.
Open AccessRecessive genomic and phenotypic variation in consanguineous families with cerebral palsy
Cerebral palsy (CP) is a neurodevelopmental disorder of motor function, with genetic etiologies, particularly de novo variants, identified in approximately one-third of cases. The contribution of consanguinity – long-recognized as a CP risk factor – has remained undefined. Here, we report findings from 188 primarily consanguineous Middle Eastern families with CP and identified putative causative genes in nearly three-quarters. The majority demonstrated recessive inheritance, although multi-level consanguinity and multilocus pathogenic variants complicated Mendelian assortment analyses. We identified 110 known CP-associated genes – five with phenotypic expansions and three others exhibiting new recessive inheritance patterns – and 24 novel candidates. We characterized ten candidates as high-confidence based on independent replication and protein modeling. We experimentally validated a role for SUCO variants in CP and newly identified a role for mid-gestational migrating excitatory neurons in the disorder. These findings highlight new genes, pathways, and phenotypes that reveal striking genomic diversity in CP.