Associated Papers
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.
Dsouza NR et al.
International Journal of Molecular Sciences, 2024
A rare early-onset neonatal case of Birk-Barel syndrome presenting severe obstructive sleep apnea: a case report.
Zhang Q et al.
Frontiers in Medicine, 2023
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA et al.
Genome Medicine, 2022
An Extremely Rare Case of Birk-Barel Syndrome With Severe Central Apneas.
Ramirez-Arenalde MA et al.
Cureus, 2021
Role of chimeric transcript formation in the pathogenesis of birth defects.
Yamada M et al.
Congenital Anomalies, 2021
46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.
Kashevarova AA et al.
Genes, 2020
TASK channels: channelopathies, trafficking, and receptor-mediated inhibition.
Inoue M et al.
Pflugers Archiv : European Journal of Physiology, 2020
A lower X-gate in TASK channels traps inhibitors within the vestibule.
Rödström KEJ et al.
Nature, 2020
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.
Šedivá M et al.
European Journal of Medical Genetics, 2020
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