Carss, K
119  results:
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2

Exome sequencing of Pakistani consanguineous families ident..:

UK10K ; Riazuddin, S ; Hussain, M...
Molecular Psychiatry.  22 (2016)  11 - p. 1604-1614 , 2016
 
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Prenatal exome sequencing for fetuses with structural abnor..:

Hillman, S.C. ; Willams, D. ; Carss, K. J....
Ultrasound in Obstetrics & Gynecology.  45 (2014)  1 - p. 4-9 , 2014
 
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G.P.1 Validation of novel secondary dystroglycanopathy gene..:

Stevens, E. ; Carss, K. ; Cirak, S....
Neuromuscular Disorders.  22 (2012)  9-10 - p. 812 , 2012
 
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The effects of pathogenic and likely pathogenic variants fo..:

Stefanucci L ; Collins J ; Sims M. C...
info:eu-repo/semantics/altIdentifier/pmid/37647632.  , 2023
 
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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelop..:

Reid, KM ; Spaull, R ; Salian, S...
https://discovery.ucl.ac.uk/id/eprint/10153087/1/Movement%20Disorders%20-%202022%20-%20Reid%20-%20MED27%20%20SLC6A7%20%20and%20MPPE1%20Variants%20in%20a%20Complex%20Neurodevelopmental%20Disorder%20with%20Severe.pdf.  , 2022
 
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Large-Scale Whole-Genome Sequencing Reveals the Genetic Arc..:

Levine, AP ; Chan, MMY ; Sadeghi-Alavijeh, O...
https://discovery.ucl.ac.uk/id/eprint/10089417/7/Gale%20rd%20levine%20et%20al%20pmg%20jasn%202020%20submitted%20version.pdf.  , 2020
 
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Correction: Exome sequencing of Pakistani consanguineous fa..:

Riazuddin, S ; Hussain, M ; Razzaq, A...
Riazuddin , S , Hussain , M , Razzaq , A , Iqbal , Z , Shahzad , M , Polla , D L , Song , Y , van Beusekom , E , Khan , A A , Tomas-Roca , L , Rashid , M , Zahoor , M Y , Wissink-Lindhout , W M , Basra , M A R , Ansar , M , Agha , Z , van Heeswijk , K , Rasheed , F , Van de Vorst , M , Veltman , J A , Gilissen , C , Akram , J , Kleefstra , T , Assir , M Z , Grozeva , D , Carss , K , Raymond , F L , O'Connor , T D , Riazuddin , S A , Khan , S N , Ahmed , Z M , de Brouwer , A P M , van Bokhoven , H , UK10K , U K K & UK10K 2020 , ' Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability ' , Molecular Psychiatry , vol. 25 , no. 11 , pp. 3101-3102 . https://doi.org/10.1038/s41380-018-0128-z.  , 2020
 
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Whole-genome sequencing of patients with rare diseases in a..:

Turro, E ; Astle, WJ ; Megy, K...
https://discovery.ucl.ac.uk/id/eprint/10103489/1/Gale_Whole-genome%20sequencing%20of%20patients%20with%20rare%20diseases%20in%20a%20national%20health%20system_AAM.pdf.  , 2020
 
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Low-frequency variation in TP53 has large effects on head c..:

Haworth, S ; Shapland, CY ; Hayward, C...
https://discovery.ucl.ac.uk/id/eprint/10067101/1/Haworth_41467-018-07863-x.pdf.  , 2019
 
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Low-frequency variation in TP53 has large effects on head c..:

Haworth, S ; Shapland, CY ; Hayward, C...
https://openaccess.sgul.ac.uk/id/eprint/110684/1/s41467-018-07863-x.pdf.  , 2019
 
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Genetic determinants of risk in pulmonary arterial hyperten..:

Rhodes, CJ ; Batai, K ; Bleda, M...
https://discovery.ucl.ac.uk/id/eprint/10071128/1/Rhodes_1-s2.0-S2213260018304090-main.pdf.  , 2019
 
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