A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome

Aortic dilation in Sotos syndrome: An underestimated feature?

(2020) Lidia Pezzani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

(2020) Kelly Schoch et al.   GENETICS IN MEDICINE

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants

(2018) Marina T. DiStefano et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome

(2017) Gianluigi Laccetta et al.   Frontiers in Pediatrics

Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction

(2015) Adam Frankish et al.   BMC GENOMICS

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

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

Choice of transcripts and software has a large effect on variant annotation

(2014) Davis J McCarthy et al.   Genome Medicine

The NSD 1 and EZH 2 Overgrowth Genes, Similarities and Differences

(2013) KATRINA TATTON-BROWN et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Left ventricular noncompaction in Sotos syndrome

(2011) Hugo R. Martinez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A