Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan, +34

Genetics in Medicine

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort

Kornélia Tripolszki, Piyush Gampawar, Helena Schmidt, +5

Frontiers in Genetics

Passive Transfer of Sera from ALS Patients with Identified Mutations Evokes an Increased Synaptic Vesicle Number and Elevation of Calcium Levels in Motor Axon Terminals, Similar to Sera from Sporadic Patients

Valéria Meszlényi, Roland Patai, Tamás F. Polgár, +9

International Journal of Molecular Sciences

High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses

Noam Vaknin, Noy Azoulay, Erez Tsur, +9

Prenatal Diagnosis

High‐throughput sequencing revealed a novel <scp>SETX</scp> mutation in a Hungarian patient with amyotrophic lateral sclerosis

Kornélia Tripolszki, Dóra Török, David Goudenège, +8

Brain and Behavior

Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis

Kornélia Tripolszki, Bernadett Csányi, Dóra Nagy, +10

Neurobiology of Aging

Genetic AnalysisNeurodegenerative DiseasesAmyotrophic Lateral SclerosisHungarian PatientsNeurological Disorder +7

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Hui Hui Wong, Sze Hwee Seet, Michael Maier, +69

The American Journal of Human Genetics

Glycogen-storage-associated MitochondriopathyMitochondrial FunctionPhysiologyCell DeathPathology +5

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly

Kornélia Tripolszki, Rachel Knox, Victoria Parker, +6

European Journal of Medical Genetics

BiologyCytogeneticsGenetic DisorderGeneticsPik3ca Gene +6

Biallelic <scp> <i>ZNFX1</i> </scp> variants are associated with a spectrum of immuno‐hematological abnormalities

Salem Alawbathani, Ana Westenberger, Natalia Ordonez‐Herrera, +24

Clinical Genetics

An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the <scp><i>OTUD5</i></scp> gene

Kornélia Tripolszki, Erina Sasaki, Ronja Hotakainen, +6

Clinical Genetics

Brain DevelopmentGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +24