The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers, +42

American Journal of Medical Genetics Part C Seminars in Medical Genetics

Epidemiology of mucopolysaccharidoses

Shaukat Khan, Hira Peracha, Diana Ballhausen, +9

Molecular Genetics and Metabolism

Parasitic DiseasePathogenesisClinical EpidemiologyInfection ControlMedicine

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Jutta Becker, Oliver Semler, Christian Gilissen, +14

The American Journal of Human Genetics

SclerostinDevelopmental BiologyMendelian DisorderGenetic DisorderHuman Serpinf1 +8

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana, +44

The American Journal of Human Genetics

Genetic LandscapeGenetic DisorderMedicineGeneticsGenetic Epidemiology +4

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang, +36

The American Journal of Human Genetics

FibrosisDevelopmental BiologySignal TransductionMendelian DisorderGeleophysic Dysplasias +6

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Víctor Martínez‐Glez, José A. Caparrós‐Martín, Mona Aglan, +9

Human Mutation

SclerostinGeneticsBone RepairNormal MtldOsteogenesis +18

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

M. Pineda, J. E. Wraith, Eugen Mengel, +7

Molecular Genetics and Metabolism

Clinical EpidemiologyClinical DiseasePublic HealthDisease AssessmentMedicine +1

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler, +21

The American Journal of Human Genetics

Ehlers-danlos SyndromeMendelian DisorderAutoimmune DiseaseDisease MechanismGenetic Disorder +6

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Tobias Schwerd, Sumeet Pandey, Huei‐Ting Yang, +25

Gut

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, +18

Nature Communications