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Wessex Regional Genetics Laboratory | Researchclopedia

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Wessex Regional Genetics Laboratory

Salisburyfacility

1,618

Works

213,036

Citations

210

h-index

Top Research Topics

Genomic variations and chromosomal abnormalities Chronic Myeloid Leukemia Treatments Myeloproliferative Neoplasms: Diagnosis and Treatment

Top Researchers

Ben Zhong Tang Qingdao University

4,147 works247,092 citationsh-index: 212

Recent Research

Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease

Chaozhe Yang,Naoe Harafuji,et al.

20260 citations

Eosinophilic Disorders and Syndromes

Prenatal Screening and Diagnostics

Genetics and Neurodevelopmental Disorders

Genomics and Rare Diseases

Genetic Syndromes and Imprinting

Acute Myeloid Leukemia Research

Chromosomal and Genetic Variations

BRCA gene mutations in cancer

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Barry Halliwell National University of Singapore

944 works176,226 citationsh-index: 190

Mark Woodward Rutherford Appleton Laboratory

1,766 works157,245 citationsh-index: 176

D. Gareth Evans Atrium Health Wake Forest Baptist

2,460 works134,398 citationsh-index: 182

David C. Rubinsztein University of Cambridge

521 works116,201 citationsh-index: 143

Ayalew Tefferi Toyota Motor Corporation (Switzerland)

2,051 works102,828 citationsh-index: 152

P3 Artificial intelligence (AI)-driven exome re-analysis and reinterpretation of undiagnosed developmental delay cases

Natalie Trump,Yacine Dahman,et al.

20260 citations

P23 Inherited variants in autosomal dominant genes are a significant cause of fetal structural anomalies with management implications for the health and reproductive options of families

Sarah Graham,A McCabe,et al.

20260 citations

A Case of Familial <i>CDKN1C</i> ‐Related Beckwith‐Wiedemann Syndrome

L. Creswell,Pranav Pandya,et al.

20260 citations

Lipid transport is necessary for neocortical lamination

Jacqueline Chrast,Stephan C. Collins,et al.

20250 citations

Long read nanopore DNA sequencing with adaptive sampling to identify tyrosine kinase fusion genes

Matthew Salmon,Nicole Naumann,et al.

20250 citations