| Title : MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy - Morsy_2026_Am.J.Hum.Genet__ |
| Author(s) : Morsy H , Kim H , Jang G , Zaki MS , Severino M , Abdelrazek IM , Hussien H , Self E , Albaradie RS , Bakur K , Firoozfar Z , Efthymiou S , Noureldeen MM , Nabil A , Alvi JR , Molavi F , Alavi S , Alibakhshi R , Topcu V , Mancilar H , Uctepe E , Yesilyurt A , Aldhalaan H , Showki Tous ES , Alhaddad B , Elbendary HM , Scardamaglia A , Murphy D , Yepez VA , Gagneur J , Omar TI , Abd Elmaksoud M , Vandrovocova J , Abdalla E , Reilly MM , Sultan T , Alkuraya FS , Gleeson JG , Um JW , Houlden H , Ko J , Maroofian R |
| Ref : American Journal of Human Genetics , : , 2026 |
| Abstract : |
| PubMedSearch : Morsy_2026_Am.J.Hum.Genet__ |
| PubMedID: 41570816 |
| Title : Association between Polymorphism rs61876744 in PNPLA2 Gene and Keratoconus in a Saudi Cohort - Kondkar_2023_Genes.(Basel)_14_ |
| Author(s) : Kondkar AA , Azad TA , Sultan T , Khatlani T , Alshehri AA , Lobo GP , Kalantan H , Al-Obeidan SA , Al-Muammar AM |
| Ref : Genes (Basel) , 14 : , 2023 |
| Abstract : |
| PubMedSearch : Kondkar_2023_Genes.(Basel)_14_ |
| PubMedID: 38136930 |
| Title : ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies - Lemire_2021_Am.J.Hum.Genet__ |
| Author(s) : Lemire G , Ito YA , Marshall AE , Chrestian N , Stanley V , Brady L , Tarnopolsky M , Curry CJ , Hartley T , Mears W , Derksen A , Rioux N , Laflamme N , Hutchison HT , Pais LS , Zaki MS , Sultan T , Dane AD , Gleeson JG , Vaz FM , Kernohan KD , Bernard G , Boycott KM |
| Ref : American Journal of Human Genetics , : , 2021 |
| Abstract : |
| PubMedSearch : Lemire_2021_Am.J.Hum.Genet__ |
| PubMedID: 34587489 |
| Gene_locus related to this paper: human-ABHD16A |