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| 37195326 | MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly. | Clin Dysmorphol | 2023 |
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| 35543077 | Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. | J Eur Acad Dermatol Venereol | 2022 |
| 35488810 | Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. | Am J Med Genet C Semin Med Genet | 2022 |
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| 34921505 | Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism. | Am J Med Genet A | 2022 |
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| 34878179 | Embryonal sarcoma of the liver in a girl with Cockayne syndrome. | Clin Genet | 2022 |
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| 33437032 | Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. | Eur J Hum Genet | 2021 |
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| 33630210 | Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification. | Geroscience | 2021 |
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| 34819528 | Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. | NPJ Genom Med | 2021 |
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| 33961779 | Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. | Am J Hum Genet | 2021 |
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