Alistair T. Pagnamenta
0000-0001-7334-0602
Publication & Citation Trends
Publications
0 total
PO04 Precision genomics refines connective tissue disorder diagnosis from Marfan to Loeys-Dietz syndrome type 4 - end of a 30-year odyssey
Cited by 0
Semantic Scholar
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library
Cited by 0
Semantic Scholar
Refinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic Odyssey.
Cited by 0
Semantic Scholar
Hypertrophic cardiomyopathy caused by Filamin-C (FLNC) variants has restrictive and extracardiac features and a distinctive ECG.
Cited by 0
Semantic Scholar
A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia
Cited by 1
Semantic Scholar
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
Cited by 5
Semantic Scholar
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
Cited by 0
Semantic Scholar
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project
Cited by 0
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(40)
Genomic variations and chromosomal abnormalities
(27)
Genetics and Neurodevelopmental Disorders
(26)
Autism Spectrum Disorder Research
(19)
Mitochondrial Function and Pathology
(15)
Affiliations
University of Geneva
Royal Children's Hospital
Centre for Human Genetics
Mashhad University of Medical Sciences
Queen Mary University of London