Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation

Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature

(2021) Vishnu Anand Cuddapah et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetes

(2020) Mahmoud M. Sirdah et al.   CLINICAL GENETICS

Consensus clinical management guidelines for Alström syndrome

(2020) Natascia Tahani et al.   Orphanet Journal of Rare Diseases

The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population

(2018) Safa Mujahid et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Type 2 diabetes mellitus (T2DM) in youth

(2018) Phil Zeitler et al.   PEDIATRIC DIABETES

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

(2016) Vandana Shashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations

(2015) J. J. O’Byrne et al.   IRISH JOURNAL OF MEDICAL SCIENCE

ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis

(2015) Takashi Izawa et al.   Cell Reports