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| 37377026 | Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. | Am J Med Genet A | 2023 |
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| 31761294 | Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia. | Am J Hum Genet | 2019 |
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| 29931299 | Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. | Hum Mol Genet | 2018 |
| 30013181 | Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. | Nat Genet | 2018 |
| 30338296 | Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction. | Neurol Genet | 2018 |
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| 30584599 | Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a <i>MRE11</i> variant. | Neurol Genet | 2018 |
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| 29605658 | Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. | Eur J Med Genet | 2018 |
| 29183715 | Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran. | Eur J Med Genet | 2018 |
| 29138120 | Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. | Matrix Biol | 2018 |
| 27102954 | Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. | Clin Genet | 2017 |
| 28133555 | Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis. | Case Rep Genet | 2017 |
| 28101991 | Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. | Hum Mutat | 2017 |
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| 29028795 | Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis. | PLoS Genet | 2017 |
| 29100092 | Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". | Am J Hum Genet | 2017 |