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| 35499524 | Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder. | Genet Med | 2022 |
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| 33131106 | De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. | Human Mutation | 2021 |
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| 32040247 | SCN8A heterozygous variants are associated with anoxic-epileptic seizures. | American Journal of Medical Genetics, Part A | 2020 |
| 32150835 | Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes. | Cancers | 2020 |
| 32822602 | De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. | Am J Hum Genet | 2020 |
| 32738225 | De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. | Am J Hum Genet | 2020 |
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| 31582743 | Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance. | Nature Communications | 2019 |
| 31607425 | Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. | Am J Hum Genet | 2019 |
| 30481285 | Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. | Human Molecular Genetics | 2019 |
| 30520571 | Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. | Hum Mutat | 2019 |
| 31142809 | Carrier screening for recessive disorders. | Nature Reviews Genetics | 2019 |
| 31079899 | Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. | Am J Hum Genet | 2019 |
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| 29771303 | Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. | Hum Mol Genet | 2018 |
| 28837161 | Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. | Genetics in Medicine | 2018 |
| 30510006 | Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts. | Proceedings of the National Academy of Sciences of the United States of America | 2018 |
| 29874583 | Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease. | Cell Rep | 2018 |
| 30290152 | Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. | Am J Hum Genet | 2018 |
| 29717186 | Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother. | Journal of Human Genetics | 2018 |
| 29343805 | Biallelic variants in KIF14 cause intellectual disability with microcephaly. | Eur J Hum Genet | 2018 |
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| 29284168 | Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder. | Neuropediatrics | 2018 |
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