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22q11.22

A chromosome band present on 22q
National Institutes of Health

Papers overview

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Highly Cited
2019
Highly Cited
2019
PurposeTo assess the clinical performance of an expanded noninvasive prenatal screening (NIPS) test (“NIPS-Plus”) for detection… 
2016
2016
Early‐onset epileptic encephalopathy (EOEE) is a heterogeneous group of neurodevelopmental disorders characterised by infantile… 
2016
2016
Mather et al. 1 Title: False Positive Cell Free DNA Screening for Microdeletions Due to Non-Pathogenic 2 Copy Number Variants 3… 
Highly Cited
2013
Highly Cited
2013
Implicating particular genes in the generation of complex brain and behavior phenotypes requires multiple lines of evidence. The… 
2009
2009
Aims: Our purpose was to identify the genetic defect in a Chinese cerulean cataract family. Methods: After obtaining informed… 
Highly Cited
2008
Highly Cited
2008
  • J. XuY. FanV. Siu
  • American Journal of Medical Genetics. Part A
  • 2008
  • Corpus ID: 33659911
Goldenhar syndrome (GS) represents a variety of craniofacial, auricular and vertebral anomalies and has also been called… 
Highly Cited
2007
Highly Cited
2007
Although recurrent chromosomal alterations occur in chronic lymphocytic leukemia (CLL), relatively few affected tumor suppressors… 
2006
2006
Abstract Primary central nervous system lymphomas (PCNSLs) are diffuse large B cell lymphomas confined to the brain. Only minimal… 
2005
2005
Mutational activation of KIT or PDGFRA is considered an early step in pathogenesis of gastrointestinal stromal tumors (GISTs…