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Carss, KJ
51  Ergebnisse:
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1

The effects of pathogenic variants for inherited hemostasis..:

Stefanucci, L ; Collins, JH ; Sims, MC...
https://www.ncbi.nlm.nih.gov/pubmed/37647632.  , 2023
Link: http://hdl.handle.net/10..
 
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2

Ceramide synthase TLCD3B is a novel gene associated with hu..:

Bertrand, RE ; Wang, J ; Xiong, KH...
https://discovery.ucl.ac.uk/id/eprint/10114005/23/Arno_TLCD3B%20retinal%20degeneration_Manuscript_GIM_wdegrees%281%29.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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3

Spontaneous Coronary Artery Dissection Insights on Rare Gen..:

Carss, KJ ; Baranowska, AA ; Armisen, J...
issn:2574-8300.  , 2020
Link: http://hdl.handle.net/11..
 
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4

Structural analysis of pathogenic missense mutations in GAB..:

Sanchis-Juan, A ; Hasenahuer, MA ; Baker, JA...
https://discovery.ucl.ac.uk/id/eprint/10097313/1/Kurian_Structural%20analysis%20of%20pathogenic%20missense%20mutations%20in%20GABRA2%20and%20identification%20of%20a%20novel%20de%20novo%20variant%20in%20the%20desensitization%20gate_AOP.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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Structural Analysis of Pathogenic Missense Mutations in GAB..:

Sanchis-Juan, A ; Hasenahuer, MA ; Baker, JA...
Mol Genet Genomic Med . 2020 Jul;8(7):e1106.  , 2020
Link: http://hdl.handle.net/10..
 
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressiv..:

Gorman, KM ; Meyer, E ; Grozeva, D...
https://discovery.ucl.ac.uk/id/eprint/10074594/1/Cross_AJHG-D-18-00798R2-final.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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7

Bi-allelic loss-of-function CACNA1B mutations in progressiv..:

Gorman, KM ; Meyer, E ; Grozeva, D...
doi:10.1016/j.ajhg.2019.03.005.  , 2019
Link: https://doi.org/10.1016/..
 
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8

Unique noncoding variants upstream of PRDM13 are associated..:

Silva, RS ; Arno, G ; Cipriani, V...
https://discovery.ucl.ac.uk/id/eprint/10067652/1/Moore_Unique%20non-coding%20variants%20upstream%20of%20PRDM13%20are%20associated%20with%20a%20spectrum%20of%20developmental%20retinal%20dystrophies%20including%20Progressive%20Bifocal_AAM.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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9

Whole genome sequencing reveals that genetic conditions are..:

French, CE ; Delon, I ; Dolling, H...
doi:10.1007/s00134-019-05552-x.  , 2019
Link: https://doi.org/10.1007/..
 
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10

Delineating the expanding phenotype associated with SCAPER ..:

Fasham, J ; Arno, G ; Lin, S...
https://discovery.ucl.ac.uk/id/eprint/10076182/1/Arno_ajmg.a.61202.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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11

Deep-intronic ABCA4 variants explain missing heritability i..:

Sangermano, R ; Garanto, A ; Khan, M...
https://discovery.ucl.ac.uk/id/eprint/10073738/1/Sangermano_s41436-018-0414-9.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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12

Deep-intronic ABCA4 variants explain missing heritability i..:

Sangermano, R ; Garanto, A ; Khan, MA...
Sangermano , R , Garanto , A , Khan , MA , Runhart , EH , Bauwens , M , Bax , NMA , van den Born , LI , Khan , MI , Cornelis , SS , Verheij , J , Pott , JWR , Thiadens , A , Klaver , C , Puech , B , Meunier , I , Naessens , S , Arno , G , Fakin , A , Carss , KJ , Raymond , FL , Webster , AR , Dhaenens , CM , Stohr , H , Grassmann , F , Weber , BHF , Hoyng , CB , De Baere , E , Albert , S , Collin , RWJ & Cremers , FPM 2019 , ' Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides ' , Genetics in Medicine , vol. 21 , no. 8 , pp. 1751-1760 . https://doi.org/10.1038/s41436-018-0414-9.  , 2019
Link: https://pure.eur.nl/en/p..
 
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13

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressiv..:

Gorman, KM ; Meyer, E ; Grozeva, D...
https://openaccess.sgul.ac.uk/id/eprint/113708/1/AJHG-D-18-00798R2.pdf.  , 2019
Link: https://openaccess.sgul...
 
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14

A clinical and molecular characterisation of CRB1-associate..:

Khan, KN ; Robson, A ; Mahroo, OAR...
https://eprints.whiterose.ac.uk/127199/1/s41431-017-0082-2.pdf.  , 2018
Link: https://eprints.whiteros..
 
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15

Novel homozygous splicing mutations in ARL2BP cause autosom..:

Fiorentino, A ; Yu, J ; Arno, G...
https://discovery.ucl.ac.uk/id/eprint/10056651/1/mv-v24-603.pdf.  , 2018
Link: https://discovery.ucl.ac..
 
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