Journal: Molecular Genetics & Genomic Medicine

Article Title: A case study of atypical Larsen syndrome with absent hallmark joint dislocations

doi: 10.1002/mgg3.648

Figure Lengend Snippet: Whole‐exome sequencing results for patients 1–3: autosomal dominant inheritance of a pathogenic variant in the FLNB gene

Article Snippet: WES and variant segregation analysis by WES were performed by commercial laboratory, GeneDx (Gaithersburg, MD), on peripheral blood samples from the proband, her brother, and her parents using methods detailed on their website for test XomeDx Whole Exome Sequencing Trio ( https://www.genedx.com/test-catalog/available-tests/xomedx-whole-exome-sequencing-trio/ ).

Techniques: Sequencing, Variant Assay

Journal: American Journal of Human Genetics

Article Title: Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

doi: 10.1016/j.ajhg.2020.02.015

Figure Lengend Snippet: Characteristics of ADARB1 Mutants Identified by Exome Sequencing in Affected Individuals

Article Snippet: 25 Individual 1 underwent trio exome sequencing by the Genomics Platform at the Broad Institute of Harvard and MIT (Broad Institute, Cambridge, MA, USA) 26 as part of the Murdoch Children’s Research Institute Undiagnosed Diseases Project (RCH HREC 36291A), individual 2 underwent exome sequencing through GeneDx (Gaithersburg, MD) on a clinical basis, individual 3 underwent trio exome sequencing as part of a pilot program funded by the Israeli Ministry of Health, and Individual 4 underwent trio exome sequencing as described by Zhu et al. 27 Cell Culture HEK293T cells were cultured in MEM with Earle’s Salts (biosera) supplemented with non-essential amino acids (Sigma-Aldrich), 10% fetal calf serum (FCS), and penicillin-streptomycin (biosera).

Techniques: Sequencing, Variant Assay, In Silico