Judit Bene
Pécsi Tudományegyetem
H-index: 32
Europe-Hungary
Top articles of Judit Bene
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly | Molecular Genetics and Metabolism Reports | Renata Szalai Agnes Till Attila Gyenesei Judit Bene Kinga Hadzsiev | 2024/3/1 |
Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia–a first case report | BMC pediatrics | Sára Pálla Pálma Anker Klára Farkas Dóra Plázár Sándor Kiss | 2023/3/8 |
Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene | International Journal of Molecular Sciences | Klára Veres Judit Bene Kinga Hadzsiev Miklós Garami Sára Pálla | 2023/7/29 |
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the … | Gergely Buki Renata Szalai Adrienn Pinter Kinga Hadzsiev Bela Melegh | 2023/7 | |
Microhomology-mediated break-induced replication: A possible molecular mechanism of the formation of a large CNV in FBN1 gene in a patient with Marfan syndrome | Current Molecular Medicine | Gergely Buki Kinga Hadzsiev Judit Bene | 2023/6/1 |
Copy Number Variations in Neuropsychiatric Disorders | Gergely Büki Kinga Hadzsiev Judit Bene | 2023/9/5 | |
Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia | Iscience | Yu-Han H Hsu Greta Pintacuda Ruize Liu Eugeniu Nacu April Kim | 2023/5/19 |
Identification of an NF1 Microdeletion with Optical Genome Mapping | International Journal of Molecular Sciences | Gergely Büki Anna Bekő Csaba Bödör Péter Urbán Krisztina Németh | 2023/9/1 |
Correction: Age-Associated B Cell Features of the Murine High-Grade B Cell Lymphoma Bc. DLFL1 and Its Extranodal Expansion in Abdominal Adipose Tissues | The Journal of Immunology | Xinkai Jia Judit Bene Noémi Balázs Katalin Szabó Gergely Berta | 2023/5/15 |
Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma | International Journal of Molecular Sciences | Anita Maász Tímea Bodó Ágnes Till Gábor Molnár György Masszi | 2023/8/17 |
Copy Number Variation in Rare Disorders | Frontiers in genetics | Katalin Komlósi Attila Gyenesei Judit Bene | 2022/4/5 |
TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness | European Journal of Medical Genetics | Anita Maasz Kinga Hadzsiev Reka Ripszam Anna Zsigmond Erika Maka | 2022/4/1 |
Neurofibromatosis-1 microdeletiós szindróma. | Gergely Büki Ágnes Till Anna Zsigmond Judit Bene Kinga Hadzsiev | 2022/12/18 | |
Interaction testing and polygenic risk scoring to estimate the association of common genetic variants with treatment resistance in schizophrenia | JAMA psychiatry | Antonio F Pardiñas Sophie E Smart Isabella R Willcocks Peter A Holmans Charlotte A Dennison | 2022/3/1 |
Genetic Polymorphisms in miR-137 and Its Target Genes, TCF4 and CACNA1C, Contribute to the Risk of Bipolar Disorder: A Preliminary Case-Control Study and Bioinformatics Analysis | Disease Markers | Mohammad Ali Mokhtari Saman Sargazi Ramin Saravani Milad Heidari Nia Shekoufeh Mirinejad | 2022/9/22 |
Age-Associated B Cell Features of the Murine High-Grade B Cell Lymphoma Bc. DLFL1 and Its Extranodal Expansion in Abdominal Adipose Tissues | The Journal of Immunology | Xinkai Jia Judit Bene Noémi Balázs Katalin Szabó Gergely Berta | 2022/6/15 |
Sex-dependent shared and nonshared genetic architecture across mood and psychotic disorders | Biological psychiatry | Gabriëlla AM Blokland Jakob Grove Chia-Yen Chen Chris Cotsapas Stuart Tobet | 2022/1/1 |
Mapping genomic loci implicates genes and synaptic biology in schizophrenia | Nature | Vassily Trubetskoy Antonio F Pardiñas Ting Qi Georgia Panagiotaropoulou Swapnil Awasthi | 2022/4/21 |
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions | Frontiers in Genetics | Gergely Büki Anna Zsigmond Márta Czakó Renáta Szalai Gréta Antal | 2021/6/8 |
A comparison of ten polygenic score methods for psychiatric disorders applied across multiple cohorts | Biological psychiatry | Guiyan Ni Jian Zeng Joana A Revez Ying Wang Zhili Zheng | 2021/11/1 |
