A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases
Logan Newton, Bushra Haque, David Cheerie, Chung Ting Tsoi et autres
0 citationsmedRxiv
Gregory Costain
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
185Publications signalées
5983Citations signalées
5Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCongenital heart defects researchGenetics and Neurodevelopmental DisordersBRCA gene mutations in cancer
Publications récentes
Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development
Emilio Dirk Raymond Oriole Harris-Mostert, Annelot C. M. van Esbroeck, David Cheerie, Kai Lee Yap et autres
0 citationsZenodo (CERN European Organization for Nuclear Research)
Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development
Emilio Dirk Raymond Oriole Harris-Mostert, Annelot C. M. van Esbroeck, David Cheerie, Kai Lee Yap et autres
0 citationsZenodo (CERN European Organization for Nuclear Research)
An n ‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition
Vedika Jha, Christina Tsetsos, Mark Bedford, Gregory Costain et autres
0 citationsEpilepsia
Correction: The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services
Saumeh Saeedi, Daena Hirjikaka, Marc Clausen, Stephanie Luca et autres
0 citationsEuropean Journal of Human Genetics
Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification
Ziyi Dai, Bushra Haque, Sabrina Xi, Gregory Costain
0 citationsGenome Medicine
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
Jimmy Nguyen, Maria Lachgar-Ruiz, Edward J. Higginbotham, Matthew Coleman et autres
1 citationNeurology
Assessing Precision Antisense Oligonucleotide Therapy Eligibility for Infantile Genetic Epilepsies
Emma Sherrill, David Cheerie, C S Beck, Ella F. Whittle et autres
0 citationsmedRxiv
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati et autres
3 citationsNature Communications
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo et autres
0 citationsJournal of Clinical Investigation
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
Robin Z. Hayeems, Wendy J. Ungar, Christian R. Marshall, Meredith Gillespie et autres
4 citationsGenetics in Medicine
Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board
Amy Pan, Kenzie Pulsifer, Michelle M. Axford, Lena Dolman et autres
0 citationsPaediatrics & Child Health
BNTIC News n’est pas le producteur de ces données. Recherche à la demande dans Crossref, OpenAIRE, DOAJ, Europe PMC, HAL, DataCite, ROR et la Banque mondiale, sans clé ; OpenAlex reste optionnel. Aucun service payant requis, aucune donnée externe enregistrée en base. Sources et limites.