Ashraf Yahia

Publications
Public outreach and news

Articles

Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32(10):1214-1226
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
Yahia A; Hamed AAA; Mohamed IN; Elseed MA; Salih MA; El-Sadig SM; Siddig HE; Nasreldien AEM; Abdullah MA; Elzubair M; Omer FY; Bakhiet AM; Abubaker R; Abozar F; Adil R; Emad S; Musallam MA; Eltazi IZM; Omer Z; Malik H; Mohamed MOE; Elhassan AA; Mohamed EOE; Ahmed AKMA; Ahmed EAA; Eltaraifee E; Hussein BK; Abd Allah ASI; Salah L; Nimir M; Elseed OMT; Elhassan TEA; Elbashier A; Alfadul ESA; Fadul M; Ali KF; Taha SOMA; Bushara EE; Amin M; Koko M; Ibrahim ME; Ahmed AE; Elsayed LEO; Stevanin G
Journal article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32(10):1338-1342
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
Koko M; Elseed MA; Mohammed IN; Hamed AA; Abd Allah ASI; Yahia A; Siddig RA; Altmueller J; Toliat MR; Elmahdi EO; Amin M; Ahmed EA; Eltazi IZM; Elmugadam FA; Abdelgadir WA; Eltaraifee E; Ibrahim MOM; Ali NMH; Malik HM; Babai AM; Bakhit YH; Nuernberg P; Ibrahim ME; Salih MA; Schubert J; Elsayed LEO; Lerche H
Journal article: NEUROGENETICS. 2024;25(4):425-433
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
Flannery KP; Safwat S; Matsell E; Battula N; Hamed AAA; Mohamed IN; Elseed MA; Koko M; Abubaker R; Abozar F; Elsayed LEO; Bhise V; Molday RS; Salih MA; Yahia A; Manzini MC
Article: JAMA NETWORK OPEN. 2024;7(8):e2429229
Machine Learning Prediction of Autism Spectrum Disorder From a Minimal Set of Medical and Background Information
Rajagopalan SS; Zhang Y; Yahia A; Tammimies K
Journal article: MEDRXIV. 2024;:2024.05.15.24306843
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Flannery KP; Safwat S; Matsell E; Battula N; Hamed AAA; Mohamed IN; Elseed MA; Koko M; Abubaker R; Abozar F; Elsayed LEO; Bhise V; Molday RS; Salih MA; Yahia A; Manzini MC
Article: HUMAN GENETICS. 2024;143(2):169-183
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Yahia A; Li D; Lejerkrans S; Rajagopalan S; Kalnak N; Tammimies K
Journal article: HUMAN GENETICS. 2023;142(12):1747-1754
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Martins S; Yahia A; Costa IPD; Siddig HE; Abubaker R; Koko M; Corral-Juan M; Matilla-Duenas A; Brice A; Durr A; Leguern E; Ranum LPW; Amorim A; Elsayed LEO; Stevanin G; Sequeiros J
Journal article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;:1-8
Consanguinity and willingness to perform premarital genetic screening in Sudan
Elhadi YAM; Alrawa SSS; Alfadul ESA; Mahgoub EAA; El-Osta A; Belal SA; Lucero-Prisno DE; El Dabbah NA; Yahia A
Journal article: ANNALS OF HUMAN GENETICS. 2022;86(4):181-194
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing
Yahia A; Ben Ayed I; Hamed AA; Mohammed IN; Elseed MA; Bakhiet AM; Guillot-Noel L; Abozar F; Adil R; Emad S; Abubaker R; Musallam MA; Eltazi IZM; Omer Z; Maaroof OM; Soussi A; Bouzid A; Kmiha S; Kamoun H; Salih MA; Ahmed AE; Elsayed L; Masmoudi S; Stevanin G
Journal article: JOURNAL OF HUMAN GENETICS. 2022;67(3):127-132
Novel variants causing megalencephalic leukodystrophy in Sudanese families
Amin M; Vignal C; Hamed AAA; Mohammed IN; Elseed MA; Drunat S; Babai A; Eltaraifee E; Elbadi I; Abubaker R; Mustafa D; Yahia A; Koko M; Osman M; Bakhit Y; Elshafea A; Alsiddig M; Haroun S; Lelay G; Elsayed LEO; Ahmed AE; Boespflug-Tanguy O; Dorboz I
Journal article: ANNALS OF HUMAN GENETICS. 2021;85(5):186-195
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families
Koko M; Yahia A; Elsayed LE; Hamed AA; Mohammed IN; Elseed MA; Hamad MHA; Babai AM; Siddig RA; Abd Allah ASI; Mohamed M; EL-Amin M; Esteves T; Altmuller J; Toliat MR; Thiele H; Nurnberg P; Salih MA; Ahmed AE; Lerche H; Stevanin G
Journal article: BMC NEUROLOGY. 2021;21(1):78
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
Yahia A; Chen ZS; Ahmed AE; Emad S; Adil R; Abubaker R; Taha SOMA; Salih MA; Elsayed L; Chan HYE; Stevanin G
Journal article: FRONTIERS IN NEUROLOGY. 2021;12:720201
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
Yahia A; Elsayed LEO; Valter R; Hamed AAA; Mohammed IN; Elseed MA; Salih MA; Esteves T; Auger N; Abubaker R; Koko M; Abozar F; Malik H; Adil R; Emad S; Musallam MA; Idris R; Eltazi IZM; Babai A; Ahmed EAA; Abd AASI; Mairey M; Ahmed AKMA; Elbashir MI; Brice A; Ibrahim ME; Ahmed AE; Lamari F; Stevanin G
Journal article: FRONTIERS IN GENETICS. 2021;12:638730
The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives
Yahia A; Stevanin G
Journal article: FRONTIERS IN NEUROLOGY. 2020;11:569996
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family
Elsayed LEO; Mohammed IN; Hamed AAA; Elseed MA; Salih MAM; Yahia A; Abubaker R; Koko M; Abd Allah ASI; Elbashir MI; Ibrahim ME; Brice A; Ahmed AE; Stevanin G
Journal article: NEUROGENETICS. 2019;20(2):91-98
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
Cauley ES; Hamed A; Mohamed IN; Elseed M; Martinez S; Yahia A; Abozar F; Abubakr R; Koko M; Elsayed L; Piao X; Salih MA; Manzini MC
Journal article: BMC NEUROLOGY. 2018;18(1):175
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report
Yahia A; Elsayed L; Babai A; Salih MA; El-Sadig SM; Amin M; Koko M; Abubakr R; Idris R; Taha SOMA; Elmalik SA; Brice A; Ahmed AE; Stevanin G
Journal article: BMC MEDICAL GENETICS. 2018;19(1):72
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
Elsayed LEO; Mohammed IN; Hamed AAA; Elseed MA; Salih MAM; Yahia A; Siddig RA; Amin M; Koko M; Elbashir MI; Ibrahim ME; Brice A; Ahmed AE; Stevanin G
Journal article: ANNALS OF NEUROLOGY. 2016;79(2):335-337
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease
Elsayed LEO; Drouet V; Usenko T; Mohammed IN; Hamed AAA; Elseed MA; Salih MAM; Koko ME; Mohamed AYO; Siddig RA; Elbashir MI; Ibrahim ME; Durr A; Stevanin G; Lesage S; Ahmed AE; Brice A
Journal article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;25(1):100-110
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
Elsayed LEO; Mohammed IN; Hamed AAA; Elseed MA; Johnson A; Mairey M; Mohamed HESA; Idris MN; Salih MAM; El-sadig SM; Koko ME; Mohamed AYO; Raymond L; Coutelier M; Darios F; Siddig RA; Ahmed KMAA; Babai AMA; Malik HMO; Omer ZMBM; Mohamed EOE; Eltahir HB; Magboul NAA; Bushara EE; Elnour A; Rahim SMA; Alattaya A; Elbashir MI; Ibrahim ME; Durr A; Audhya A; Brice A; Ahmed AE; Stevanin G
Journal article: JOURNAL OF THE AMERICAN GERIATRICS SOCIETY. 2014;62(8):1460-1466
Contribution of Noncommunicable Diseases to Medical Admissions of Elderly Adults in Africa: A Prospective, Cross-Sectional Study in Nigeria, Sudan, and Tanzania
Akinyemi RO; Izzeldin IMH; Dotchin C; Gray WK; Adeniji O; Seidi OA; Mwakisambwe JJ; Mhina CJ; Mutesi F; Msechu HZ; Mteta KA; Ahmed MAM; Hamid SHM; Abuelgasim NAA; Mohamed SAA; Mohamed AYO; Adesina F; Hamzat M; Olunuga T; Maro VP; Walker R
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All other publications

Preprint: RESEARCH SQUARE. 2023
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Yahia A; Li D; Lejerkrans S; Rajagopalan S; Kalnak N; Tammimies K
Conference publication: 2023
Whole exome sequencing in a large Swedish cohort with severe developmental language disorders
Yahia A; Li D; Lejerkrans S; Habbe M; Kalnak N; Tammimies K
Preprint: RESEARCH SQUARE. 2022
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degeneration
Stevanin G; Hamed A; Mohamed I; Elseed M; Salih M; Elsadig S; Siddig HE; Nasreldien A; Abdullah MA; Elzubair M; Omer F; BAKHIET A; Abubaker R; Abozar F; Adil R; Emad S; Musallam MA; Eltazi I; Omer Z; Malik H; Mohamed M; Elhassan A; Mohamed E; Ahmed A; Ahmed E; Eltaraifee E; Hussein B; Allah AA; Mohamed L; Nimir M; Elseed OT; Elhassan T; Elbashier A; Alfadul E; Fadul M; Ali K; Taha S; Bushara E; Amin M; koko M; Ibrahim M; Ahmed A; Elsayed L; Yahia A

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