Search

Your search keyword '"Shaw, Chad A."' showing total 78 results

Search Constraints

Start Over You searched for: Author "Shaw, Chad A." Remove constraint Author: "Shaw, Chad A." Publisher elsevier inc. Remove constraint Publisher: elsevier inc.
78 results on '"Shaw, Chad A."'

Search Results

1. The impact of clinical genome sequencing in a global population with suspected rare genetic disease

2. The impact of the Turkish population variome on the genomic architecture of rare disease traits

4. Centers for Mendelian Genomics: A decade of facilitating gene discovery

5. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

6. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

9. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

10. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

11. Effects of genetic variation in protease activated receptor 4 after an acute coronary syndrome: Analysis from the TRACER trial

14. An Organismal CNV Mutator Phenotype Restricted to Early Human Development

15. Molecular diagnostic experience of whole-exome sequencing in adult patients

21. The Oncogenic STP Axis Promotes Triple-Negative Breast Cancer via Degradation of the REST Tumor Suppressor

23. Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

24. Pathway-Centric Integrative Analysis Identifies RRM2 as a Prognostic Marker in Breast Cancer Associated with Poor Survival and Tamoxifen Resistance

26. O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients*

27. TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

30. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

32. Activation of Multiple Proto-oncogenic Tyrosine Kinases in Breast Cancer via Loss of the PTPN12 Phosphatase

33. Proinflammatory Role for let-7 MicroRNAS in Experimental Asthma

43. Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

50. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Catalog

Books, media, physical & digital resources