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| 37551667 | Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. | Genet Med | 2023 |
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| 37568403 | Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment. | J Clin Med | 2023 |
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| 37384395 | Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome. | Hum Mol Genet | 2023 |
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| 36976648 | CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. | J Clin Invest | 2023 |
| 37207645 | Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions. | Am J Hum Genet | 2023 |
| 37196654 | The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. | Am J Hum Genet | 2023 |
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| 36446584 | Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders. | J Med Genet | 2023 |
| 36399134 | Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. | Genet Med | 2023 |
| 36600615 | Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples. | J Med Genet | 2023 |
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| 35833929 | Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. | Genet Med | 2022 |
| 35567594 | Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder. | Genet Med | 2022 |
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| 36214804 | De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder. | Genet Med | 2022 |
| 35872606 | Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. | Am J Med Genet C Semin Med Genet | 2022 |
| 36096018 | 16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency. | Parkinsonism Relat Disord | 2022 |
| 36011323 | A Novel Intragenic Duplication in the <i>HDAC8</i> Gene Underlying a Case of Cornelia de Lange Syndrome. | Genes (Basel) | 2022 |
| 33910934 | A systematic study and literature review of parental somatic mosaicism of <i>FBN1</i> pathogenic variants in Marfan syndrome. | J Med Genet | 2022 |
| 34906509 | Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al. | Genet Med | 2022 |
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| 34068396 | Schuurs-Hoeijmakers Syndrome (<i>PACS1</i> Neurodevelopmental Disorder): Seven Novel Patients and a Review. | Genes (Basel) | 2021 |
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| 31600839 | Skeletal abnormalities are common features in Aymé-Gripp syndrome. | Clin Genet | 2020 |
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| 32620954 | TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. | Hum Mol Genet | 2020 |
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| 31316167 | A clinical scoring system for congenital contractural arachnodactyly. | Genet Med | 2020 |
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| 29307792 | Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS). | Eur J Med Genet | 2018 |
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| 27406248 | Rare novel variants in the ZIC3 gene cause X-linked heterotaxy. | Eur J Hum Genet | 2016 |
| 26582061 | Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer. | J Natl Cancer Inst | 2015 |
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