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Author/Creator Saggar, Anand

2. Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Issue 8 (25th May 2021)

Authors:
Poole, Rebecca L.; Curry, Philippa D. K.; Marcinkute, Ruta; Brewer, Carole; Coman, David; Hobson, Emma; Johnson, Diana; Lynch, Sally Ann; Saggar, Anand; Searle, Claire; Scurr, Ingrid; Turnpenny, Peter D.; Vasudevan, Pradeep; Tatton‐Brown, Katrina
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2445
Record Type:
Journal Article
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3. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. Issue 4 (25th January 2011)

Authors:
Slade, Ingrid; Bacchelli, Chiara; Davies, Helen; Murray, Anne; Abbaszadeh, Fatemeh; Hanks, Sandra; Barfoot, Rita; Burke, Amos; Chisholm, Julia; Hewitt, Martin; Jenkinson, Helen; King, Derek; Morland, Bruce; Pizer, Barry; Prescott, Katrina; Saggar, Anand; Side, Lucy; Traunecker, Heidi; Vaidya, Suc...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 4(2011)
Page Start:
273
Record Type:
Journal Article
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4. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Issue 4 (29th March 2017)

Authors:
Salpietro, Vincenzo; Lin, Weichun; Vedove, Andrea Delle; Storbeck, Markus; Liu, Yun; Efthymiou, Stephanie; Manole, Andreea; Wiethoff, Sarah; Ye, Qiaohong; Saggar, Anand; McElreavey, Kenneth; Krishnakumar, Shyam S.; Pitt, Matthew; Bello, Oscar D.; Rothman, James E.; Basel‐Vanagaite, Lina; Hubshman...
Journal:
Annals of neurology
Issue:
Volume 81:Issue 4(2017)
Page Start:
597
Record Type:
Journal Article
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5. Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. (May 2016)

Authors:
Pavlidou, Efterpi; Salpietro, Vincenzo; Phadke, Rahul; Hargreaves, Iain P.; Batten, Leigh; McElreavy, Kenneth; Pitt, Matthew; Mankad, Kshitij; Wilson, Clare; Cutrupi, Maria Concetta; Ruggieri, Martino; McCormick, David; Saggar, Anand; Kinali, Maria
Journal:
European journal of paediatric neurology
Issue:
Volume 20:Number 3(2016:May)
Page Start:
483
Record Type:
Journal Article
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6. Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis. Issue 7 (27th April 2022)

Authors:
Wai, Htoo A.; Constable, Matthew; Drewes, Cosima; Davies, Ian C.; Svobodova, Eliska; Dempsey, Esther; Saggar, Anand; Homfray, Tessa; Mansour, Sahar; Douzgou, Sofia; Barr, Kate; Mercer, Catherine; Hunt, David; Douglas, Andrew G. L.; Baralle, Diana
Journal:
Human mutation
Issue:
Volume 43:Issue 7(2022)
Page Start:
963
Record Type:
Journal Article
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