Klippel–Trenaunay syndrome belongs to the <i>PIK3CA</i>‐related overgrowth spectrum (PROS)

Hassan Vahidnezhad, Leila Youssefian, Jouni Uitto

Experimental Dermatology

GeneticsPathologyDermatologyMendelian DisorderCongenital Disorders +14

The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

Sarah Jill de Jong, Amandine Créquer, Irina Matos, +33

The Journal of Experimental Medicine

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

Vivien Béziat, Franck Rapaport, Jiafen Hu, +71

Cell

Primary ImmunodeficiencyAutoimmune DiseaseImmunodeficienciesT-regulatory CellImmunology +9

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

J.K. Simpson, Magdalena Martinez-Queipo, Alexandros Onoufriadis, +27

British Journal of Dermatology

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, +18

Matrix Biology

Mendelian DisorderGenetic DisorderLysyl Hydroxylase 3PathologyDermatology +3

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy

Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, +13

Matrix Biology

Autoimmune DiseaseMedicineImmunologyPathologyMulti-systemic Manifestations +4

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages

Hassan Vahidnezhad, Leila Youssefian, Sirous Zeinali, +9

Journal of Investigative Dermatology

Extended FamiliesDystrophic Epidermolysis BullosaCol7a1 Mutation LandscapeGeneticsGenetic Epidemiology +3

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, +13

Human Mutation

GeneticsGenetic EpidemiologyPathologyPhenotypic SpectrumDisease Gene Identification +16

Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations

Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, +9

Journal of Hepatology

ObesityMetabolic SyndromeMonoallelic Abhd5 MutationsHepatologyNonalcoholic Fatty Liver Disease +9

FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice

Mana Momenilandi, Romain Lévy, Steicy Sobrino, +70

Cell