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| 37827158 | Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. | Am J Hum Genet | 2023 |
| 37808847 | Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features. | medRxiv | 2023 |
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| 37352860 | Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. | Am J Hum Genet | 2023 |
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| 37254875 | Locus conversions are rare in the LRFN5 locus. | Autism Res | 2023 |
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| 36943452 | Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. | Hum Genet | 2023 |
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| 36478354 | Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence. | Am J Med Genet A | 2023 |
| 36689522 | Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects. | Br J Dermatol | 2023 |
| 36681873 | A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. | Genet Med | 2023 |
| 36868207 | Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. | Am J Hum Genet | 2023 |
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| 36941451 | PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing. | Nat Metab | 2023 |
| 36528028 | Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. | Am J Hum Genet | 2023 |
| 35997807 | De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis. | Hum Genet | 2023 |
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| 35584218 | A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations. | Sci Adv | 2022 |
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| 35717242 | Monogenic disorders as mimics of juvenile idiopathic arthritis. | Pediatr Rheumatol Online J | 2022 |
| 36044892 | Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. | Am J Hum Genet | 2022 |
| 35871492 | Bi-allelic FRA10AC1 variants in a multisystem human syndrome. | Brain | 2022 |
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| 35986704 | Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome. | Br J Dermatol | 2022 |
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| 34906488 | Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. | Genet Med | 2022 |
| 35060672 | Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D. | Am J Med Genet A | 2022 |
| 35139179 | Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. | Brain | 2022 |
| 34612517 | Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects. | Clin Genet | 2022 |
| 34611970 | A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy. | Am J Med Genet A | 2022 |
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| 33603162 | ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy. | Eur J Hum Genet | 2021 |
| 33547280 | Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. | Nat Commun | 2021 |
| 33596411 | SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. | Am J Hum Genet | 2021 |
| 33513338 | Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. | Am J Hum Genet | 2021 |
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