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Alistair T. Pagnamenta

Alistair T. Pagnamenta

D-Index & Metrics

Genetics

D-Index
52
Citations
13582
World Ranking
3772
National Ranking
439

Overview

Alistair T. Pagnamenta is affiliated with the University of Oxford in the United Kingdom. Their research spans multiple areas within biochemistry, genetics, and molecular biology, with a focus on genetics and molecular mechanisms underlying rare diseases and neurodevelopmental disorders.

The scientist's recent publications include the following papers:

  • "Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans," 2020, Nature Communications
  • "SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling," 2020, The American Journal of Human Genetics
  • "Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases," 2023, Genome Medicine
  • "An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy," 2020, Brain
  • "Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia," 2021, Brain

Their work has been published frequently in the following venues:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics
  • Journal of Medical Genetics
  • Brain
  • Genetics in Medicine

Alistair T. Pagnamenta's main fields of study encompass:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Their research also touches on several subfields of study, including:

  • Genetics
  • Molecular Biology
  • Cellular and Molecular Neuroscience
  • Cell Biology
  • Cardiology and Cardiovascular Medicine

The primary research topics addressed in their work include:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Genomic variations and chromosomal abnormalities
  • Connective tissue disorders research
  • Neurogenetic and Muscular Disorders Research
  • RNA modifications and cancer
  • Mitochondrial Function and Pathology

Throughout their career, Alistair T. Pagnamenta has collaborated extensively, with frequent co-authors including:

  • Jenny C. Taylor
  • Reza Maroofian
  • Henry Houlden
  • Stéphanie Efthymiou
  • Fowzan S. Alkuraya

Best Publications

  • Functional impact of global rare copy number variation in autism spectrum disorders

    Dalila Pinto;Alistair T. Pagnamenta;Lambertus Klei;Richard Anney

  • Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

    Dalila Pinto;Elsa Delaby;Elsa Delaby;Elsa Delaby;Daniele Merico;Mafalda Barbosa

  • A genome-wide linkage and association scan reveals novel loci for autism

    Lauren A. Weiss;Lauren A. Weiss;Dan E. Arking;Mark J. Daly;Mark J. Daly;Aravinda Chakravarti

  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

    Richard J.L. Anney;Richard J.L. Anney;Stephan Ripke;Stephan Ripke;Stephan Ripke;Verneri Anttila;Jakob Grove;Jakob Grove

  • A genome-wide scan for common alleles affecting risk for autism

    Richard Anney;Lambertus Klei;Dalila Pinto;Regina Regan

  • Individual common variants exert weak effects on the risk for autism spectrum disorders.

    Richard Anney;Lambertus Klei;Dalila Pinto;Dalila Pinto;Joana Almeida

  • Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Jenny C. Taylor;Jenny C. Taylor;Hilary C. Martin;Stefano Lise;John Broxholme

  • Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

    Orly Elpeleg;Orly Elpeleg;Chaya Miller;Eli Hershkovitz;Maria Bitner-Glindzicz

  • Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

    Hilary C. Martin;Grace E. Kim;Alistair T. Pagnamenta;Alistair T. Pagnamenta;Yoshiko Murakami

  • Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

    Abdul Noor;Annabel Whibley;Christian R. Marshall;Peter J. Gianakopoulos

  • A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

    Jillian P. Casey;Tiago R. Magalhães;Tiago R. Magalhães;Judith M. Conroy;Regina Regan

  • Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia

    Alistair T. Pagnamenta;Elena Bacchelli;Maretha V. de Jonge;Ghazala Mirza

  • The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.

    Katharina Schwarze;James Buchanan;James Buchanan;Jilles M Fermont;Helene Dreau

  • Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

    Jennifer J Johnston;Jasper J van der Smagt;Jill A Rosenfeld;Alistair T Pagnamenta

  • Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

    Alistair T Pagnamenta;Jan-Willem Taanman;Callum J Wilson;Neil E Anderson

  • High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.

    E Maestrini;A T Pagnamenta;J A Lamb;J A Lamb;E Bacchelli

  • A 15q13.3 microdeletion segregating with autism

    Alistair T. Pagnamenta;Kirsty Wing;Elham Sadighi Akha;Samantha J. L. Knight

  • Sequencing of human genomes with nanopore technology

    R Bowden;R W Davies;A Heger;A T Pagnamenta;A T Pagnamenta

  • Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

    Cazier J-B.;Rao;C M McLean;A K Walker

  • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

    Dalila Pinto;Elsa Delaby;Daniele Merico;Mafalda Barbosa

Frequent Co-Authors

Jenny C. Taylor
Jenny C. Taylor University of Oxford
Anthony P. Monaco
Anthony P. Monaco Tufts University
Samantha J.L. Knight
Samantha J.L. Knight University of Oxford
Elena Maestrini
Elena Maestrini University of Bologna
Dalila Pinto
Dalila Pinto Icahn School of Medicine at Mount Sinai
Catalina Betancur
Catalina Betancur Sorbonne University
Geraldine Dawson
Geraldine Dawson Duke University
Stephen W. Scherer
Stephen W. Scherer University of Toronto
Jeremy R. Parr
Jeremy R. Parr Newcastle University
Edwin H. Cook
Edwin H. Cook University of Illinois at Chicago

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