Bhaskar, Sanjeev
81  results:
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1

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh ; Richer, Julie...
Hochberg , I , Demain , L , Richer , J , Thompson , K , Urquhart , J , Rea , A , Pagarkar , W , Rodriguez-Palmero , A , Beaman , G , O'Sullivan , J , Williams , S , Bhaskar , S , O'Keefe , R , Newman , W & Munro , K 2021 , ' Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations ' , American Journal of Human Genetics , vol. 108 , no. 11 , pp. 2195-2204 . https://doi.org/10.1016/j.ajhg.2021.10.002.  , 2021
 
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A deep intronic SMARCB1 variant associated with schwannomat..:

Smith, Miriam J ; Bowers, Naomi L ; Banks, Catherine...
Smith , M J , Bowers , N L , Banks , C , Coates-Brown , R , Morris , K A , Ewans , L , Wilson , M , Pinner , J , Bhaskar , S , Cammarata-Scalisi , F , Wallace , A J & Evans , D G 2019 , ' A deep intronic SMARCB1 variant associated with schwannomatosis ' , Clinical Genetics . https://doi.org/10.1111/cge.13637.  , 2019
 
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Assessment of the incorporation of CNV surveillance into ge..:

Ellingford, Jamie ; Horn, Bradley ; Campbell, Christopher...
Ellingford , J , Horn , B , Campbell , C , Arno , G , Barton , S , Tate , C , Bhaskar , S , Sergouniotis , P , Taylor , R L , Carss , K J , Raymond , F L , Michaelides , M , Ramsden , S C , Webster , A R & Black , G 2018 , ' Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. ' , Journal of Medical Genetics , vol. 55 , no. 2 , pp. 114-121 . https://doi.org/10.1136/jmedgenet-2017-104791.  , 2018
 
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Dev..:

Cuvertino, Sara ; Stuart, Helen M ; Chandler, Kate E...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.11.006.  , 2017
 
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Validation of copy number variation analysis for next-gener..:

Ellingford, Jamie ; Campbell, Christopher ; Barton, Stephanie...
Ellingford , J , Campbell , C , Barton , S , Bhaskar , S , Gupta , S , Taylor , R , Sergouniotis , P I , Horn , B , Lamb , J , Michaelides , M , Webster , A R , Newman , W , Panda , B , Ramsden , S & Black , G 2017 , ' Validation of copy number variation analysis for next-generation sequencing diagnostics ' , European Journal of Human Genetics , vol. 25 , pp. 719-724 . https://doi.org/10.1038/ejhg.2017.42.  , 2017
 
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Dev..:

Cuvertino, Sara ; Stuart, Helen M ; Chandler, Kate E...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.11.006.  , 2017
 
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Dev..:

Cuvertino, Sara ; Stuart, Helen M ; Chandler, Kate E...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.11.006.  , 2017
 
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Dev..:

Cuvertino, Sara ; Stuart, Helen M ; Chandler, Kate E...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.11.006.  , 2017
 
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Diagnosing Childhood-onset Inborn Errors of Metabolism by N..:

Ghosh, Arunabha ; Schlecht, Hélene ; Heptinstall, Lesley...
Ghosh , A , Schlecht , H , Heptinstall , L , Bassett , J K , Cartwright , E , Bhaskar , S , Urquhart , J , Broomfield , A , Morris , A AM , Jameson , E , Schwahn , B C , Walter , J , Douzgou , S , Murphy , H , Hendriksz , C , Sharma , R , Wilcox , G , Crushell , E , Monavari , A A , Martin , R E , Doolan , A , Senniappan , S , Ramsden , S , Jones , S A & Banka , S 2017 , ' Diagnosing Childhood-onset Inborn Errors of Metabolism by Next Generation Sequencing ' , Archives of Disease in Childhood . https://doi.org/10.1136/archdischild-2017-312738.  , 2017
 
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