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Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context
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Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
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Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family
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Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family
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Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family
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Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders
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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
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Diagnostic value of a protocolized in-depth evaluation of pediatric bone marrow failure
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (vol 6, 92, 2021)
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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
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Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders (vol 108, pg 1692, 2021)
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AHDC1 missense mutations in Xia-Gibbs syndrome
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Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
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The end of the laboratory developed test as we know it? Recommendations from a national multidisciplinary taskforce of laboratory specialists on the interpretation of the IVDR and its complications
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DLG4-related synaptopathy
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A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability
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Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology
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A new gene associated with a beta-thalassemia phenotype: the observation of variants in SUPT5H
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