|
| 34916230 | Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts. | J Med Genet | 2023 |
| 38022535 | Profound and selective lymphopaenia in primary lymphatic anomaly patients demonstrates the significance of lymphatic-lymphocyte interactions. | Front Immunol | 2023 |
| 37698920 | Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies. | JCI Insight | 2023 |
| 36928819 | Genetic association analysis of 77,539 genomes reveals rare disease etiologies. | Nat Med | 2023 |
| 34212753 | SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype. | Cleft Palate Craniofac J | 2022 |
| 35476365 | Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis. | Hum Mutat | 2022 |
| 36238151 | Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition. | Front Genet | 2022 |
| 36192182 | The Phenotypic Continuum of <i>ATP1A3</i>-Related Disorders. | Neurology | 2022 |
| 35266292 | The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. | Am J Med Genet A | 2022 |
| 34897289 | Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. | Eur J Hum Genet | 2022 |
| 33437032 | Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. | Eur J Hum Genet | 2021 |
| 33567347 | Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia. | Eur J Med Genet | 2021 |
| 33525641 | Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. | J Clin Med | 2021 |
| 33884299 | Ataxia-Pancytopenia Syndrome due to a de Novo <i>SAMD9L</i> Mutation. | Neurol Genet | 2021 |
| 34403370 | Mutations in EPHB4 cause human venous valve aplasia. | JCI Insight | 2021 |
| 34040196 | Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes. | Genet Med | 2021 |
| 33395557 | The St George's Classification Algorithm of Primary Lymphatic Anomalies. | Lymphat Res Biol | 2021 |
| 31520548 | An unusual manifestation of X-linked hypohidrotic ectodermal dysplasia with palmoplantar keratoderma. | Clin Exp Dermatol | 2020 |
| 31875334 | Diagnosis of fetal abnormalities using exome sequencing: translating research into practice. | Ultrasound Obstet Gynecol | 2020 |
| 32100099 | Biallelic mutations in NRROS cause an early onset lethal microgliopathy. | Acta Neuropathol | 2020 |
| 32939943 | Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. | Hum Mutat | 2020 |
| 32240826 | Mosaicism in ASXL3-related syndrome: Description of five patients from three families. | Eur J Med Genet | 2020 |
| 32409509 | Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis. | J Med Genet | 2020 |
| 32196790 | Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. | Ultrasound Obstet Gynecol | 2020 |
| 30622331 | Duplication of 10q24 locus: broadening the clinical and radiological spectrum. | Eur J Hum Genet | 2019 |
| 31721633 | Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome. | Lymphat Res Biol | 2019 |
| 31714006 | Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients. | Am J Med Genet C Semin Med Genet | 2019 |
| 30253685 | A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE). | J Hand Surg Eur Vol | 2019 |
| 31479583 | The phenotype of Sotos syndrome in adulthood: A review of 44 individuals. | Am J Med Genet C Semin Med Genet | 2019 |
| 30801665 | Postzygotic mosaicism in a woman with Goltz syndrome mimics segmental angioma serpiginosum. | Br J Dermatol | 2019 |
| 31028252 | Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. | Nat Commun | 2019 |
| 31077665 | Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. | Am J Ophthalmol | 2019 |
| 29097605 | PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. | J Med Genet | 2018 |
| 30071673 | A Novel Splice-Site Mutation in <i>VEGFC</i> Is Associated with Congenital Primary Lymphoedema of Gordon. | Int J Mol Sci | 2018 |
| 30382944 | Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. | J Clin Invest | 2018 |
| 29461977 | Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. | J Clin Invest | 2018 |
| 29595812 | Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. | Genet Med | 2018 |
| 29331020 | Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes? | J Physiol | 2018 |
| 29330548 | SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester. | Eur J Hum Genet | 2018 |
| 28544699 | Renal anomalies and lymphedema distichiasis syndrome. A rare association? | Am J Med Genet A | 2017 |
| 28407399 | Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease. | Traffic | 2017 |
| 28327575 | Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. | Eur J Hum Genet | 2017 |
| 29196357 | An approach to familial lymphoedema. | Clin Med (Lond) | 2017 |
| 28814672 | VIPAR, a quantitative approach to 3D histopathology applied to lymphatic malformations. | JCI Insight | 2017 |
| 28855261 | Detection of structural mosaicism from targeted and whole-genome sequencing data. | Genome Res | 2017 |
| 28724617 | Human venous valve disease caused by mutations in FOXC2 and GJC2. | J Exp Med | 2017 |
| 25996076 | Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11. | Acta Ophthalmol | 2016 |
| 26543203 | Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. | J Med Genet | 2016 |
| 26567923 | Gastric leiomyoma in a child with Gorlin-Goltz syndrome: First pediatric case. | Pediatr Int | 2016 |
| 26242988 | The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. | Eur J Hum Genet | 2016 |