GREGoR Publications
2024
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024;147(4):1436-1456.
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024;52(4):e18.
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Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clin Genet. 2024;.
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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024;9(1):18.
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Closing the gap: Solving complex medically relevant genes at scale. medRxiv. 2024;.
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Clinical and molecular characterization of patients with YWHAG-related epilepsy. Epilepsia. 2024;.
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2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023;191(3):794-804.
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FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023;24(1):31.
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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023;146(8):3273-3288.
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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023;25(8):100856.
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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023;146(8):3162-3171.
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FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023;14(1):2026.
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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023;110(4):681-690.
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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Eur J Hum Genet. 2023;31(8):905-917.
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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023;110(8):1394-1413.
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Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nat Methods. 2023;20(8):1213-1221.
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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023;46(6):1195-1205.
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The complete sequence of a human Y chromosome. Nature. 2023;621(7978):344-354.
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Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023;110(8):1229-1248.
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Genomic variant benchmark: if you cannot measure it, you cannot improve it. Genome Biol. 2023;24(1):221.
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2022
Towards accurate and reliable resolution of structural variants for clinical diagnosis. Genome Biol. 2022;23(1):68.
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De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 2022;188(8):2360-2366.
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TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022;605(7909):349-356.
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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022;101(5-6):530-540.
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022;109(9):1713-1723.
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An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022;7(23).
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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022;109(12):2270-2282.
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2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021;108(10):1981-2005.
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Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A. 2021;185(11):3294-3313.
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missense mutations in Xia-Gibbs syndrome. HGG Adv. 2021;2(4).
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