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A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia
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Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
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Hiding in plain sight: a partial deletion ofBRCA1exon 7 undetectable by MLPA is a Nepali founder variant
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Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
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Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus
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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
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Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
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<i>FILIP1</i>-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
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Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
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Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome
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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
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