Genetic Analysis Workshop 17 mini-exome simulation [PDF]
, 2011 Laura Almasy +6 more
openalex +1 more source
Prior Knowledge based mutation prioritization towards causal variant finding in rare disease [PDF]
arXiv, 2017 How do we determine the mutational effects in exome sequencing data with little or no statistical evidence? Can protein structural information fill in the gap of not having enough statistical evidence? In this work, we answer the two questions with the goal towards determining pathogenic effects of rare variants in rare disease. We take the approach of
arxiv
Diagnostic Cytopathology, Volume 51, Issue 1, Page 83-94, January 2023., 2023 Abstract Molecular diagnostics has expanded to become the standard of care for a variety of solid tumor types. With limited diagnostic material, it is often desirable to use cytological preparations to provide rapid and accurate molecular results. This review covers important pre‐analytic considerations and limitations, and a description of common ...
Scott A. Turner +2 more
wiley +1 more source
Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family [PDF]
, 2011 Gladys Montenegro +10 more
openalex +1 more source
Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency [PDF]
, 2011 Linghua Wang +24 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SATB2‐associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT‐rich sequence‐binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain.
Nao Ukita +5 more
wiley +1 more source
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 [PDF]
, 2011 Minal Çalışkan +14 more
openalex +1 more source
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren +10 more
wiley +1 more source
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype [PDF]
, 2011 Ahmed Alfares +9 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli +10 more
wiley +1 more source