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| 36150828 | Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. | J Med Genet | 2023 |
| 38095637 | Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal deletion. | | 2023 |
| 37924809 | RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. | Am J Hum Genet | 2023 |
| 36846628 | Genomic Analysis of the and Polyketide Synthase Gene Mining Based on the Whole Genome. | | 2023 |
| 36846174 | Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios. | | 2023 |
| 36800428 | Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. | Sci Adv | 2023 |
| 36537114 | Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. | Am J Med Genet A | 2023 |
| 36135330 | Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. | Am J Med Genet A | 2022 |
| 36065636 | Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. | Am J Med Genet A | 2022 |
| 35753512 | Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. | J Allergy Clin Immunol | 2022 |
| 35188328 | LMOD2-related dilated cardiomyopathy presenting in late infancy. | Am J Med Genet A | 2022 |
| 34906496 | Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. | Genet Med | 2022 |
| 36368327 | 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 |
| 36303224 | The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. | Genome Med | 2022 |
| 36180924 | Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. | Genome Med | 2022 |
| 33824499 | Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. | Genet Med | 2021 |
| 33597717 | RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. | Mol Psychiatry | 2021 |
| 33576134 | Clinical characterization of individuals with the distal 1q21.1 microdeletion. | Am J Med Genet A | 2021 |
| 34587367 | Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. | Mol Genet Genomic Med | 2021 |
| 34061437 | A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature. | American Journal of Medical Genetics, Part A | 2021 |
| 34041744 | CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. | Epilepsia | 2021 |
| 33963760 | PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. | Clin Genet | 2021 |
| 31633297 | Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. | Am J Med Genet A | 2020 |
| 32576985 | CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. | Genet Med | 2020 |
| 32387503 | Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. | Genomics | 2020 |
| 32181591 | GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. | American Journal of Medical Genetics, Part A | 2020 |
| 32176465 | Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions. | Curr Protoc Hum Genet | 2020 |
| 32152250 | Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. | J Med Genet | 2020 |
| 31999386 | BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. | Hum Mutat | 2020 |
| 31883644 | Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. | American Journal of Human Genetics | 2020 |
| 31349857 | A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. | Genome Med | 2019 |
| 31216405 | Reanalysis of Clinical Exome Sequencing Data. | N Engl J Med | 2019 |
| 31209944 | Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. | Hum Mutat | 2019 |
| 31101064 | Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. | Genome Med | 2019 |
| 30909959 | Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. | Genome Med | 2019 |
| 30890783 | Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. | Genet Med | 2019 |
| 30819258 | De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. | Genome Med | 2019 |
| 30773277 | Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. | Am J Hum Genet | 2019 |
| 30679821 | Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. | Genet Med | 2019 |
| 30395933 | Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. | European Journal of Medical Genetics | 2019 |
| 30198636 | PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia. | Pediatr Blood Cancer | 2019 |
| 30158690 | Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. | Genet Med | 2019 |
| 31785787 | Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. | Am J Hum Genet | 2019 |
| 31785788 | Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis. | Am J Hum Genet | 2019 |
| 29330883 | Genotype-phenotype correlations in individuals with pathogenic RERE variants. | Hum Mutat | 2018 |
| 30349862 | Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in females. | Ann Clin Transl Neurol | 2018 |
| 30295347 | KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. | Ann Neurol | 2018 |
| 30266093 | Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. | Genome Med | 2018 |
| 29848116 | Novel applications of array comparative genomic hybridization in molecular diagnostics. | Expert Review of Molecular Diagnostics | 2018 |
| 29556724 | De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. | Hum Genet | 2018 |