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Author/Creator Faiz, Fathimath

3. Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. Issue 9 (15th October 2020)

Authors:
Ravenscroft, Gina; Clayton, Joshua S; Faiz, Fathimath; Sivadorai, Padma; Milnes, Di; Cincotta, Rob; Moon, Phillip; Kamien, Ben; Edwards, Matthew; Delatycki, Martin; Lamont, Phillipa J; Chan, Sophelia HS; Colley, Alison; Ma, Alan; Collins, Felicity; Hennington, Lucinda; Zhao, Teresa; McGillivray, ...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 9(2021)
Page Start:
609
Record Type:
Journal Article
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4. Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Issue 11 (9th September 2020)

Authors:
Akesson, Lauren S.; Bournazos, Adam; Fennell, Andrew; Krzesinski, Emma I.; Tan, Kenneth; Springer, Amanda; Rose, Katherine; Goranitis, Ilias; Francis, David; Lee, Crystle; Faiz, Fathimath; Davis, Mark R.; Christodoulou, John; Lunke, Sebastian; Stark, Zornitza; Hunter, Matthew F.; Cooper, Sandra T.
Journal:
Human mutation
Issue:
Volume 41:Issue 11(2020)
Page Start:
1884
Record Type:
Journal Article
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5. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Issue 2 (3rd December 2019)

Authors:
Bryen, Samantha J.; Ewans, Lisa J.; Pinner, Jason; MacLennan, Suzanna C.; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R.; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M.; Hu, Ying; Grosmann, Carla; Malicki, Denise M.; Doyle...
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
403
Record Type:
Journal Article
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6. Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience. Issue 3 (9th March 2020)

Authors:
Beecroft, Sarah J.; Yau, Kyle S.; Allcock, Richard J. N.; Mina, Kym; Gooding, Rebecca; Faiz, Fathimath; Atkinson, Vanessa J.; Wise, Cheryl; Sivadorai, Padma; Trajanoski, Daniel; Kresoje, Nina; Ong, Royston; Duff, Rachael M.; Cabrera‐Serrano, Macarena; Nowak, Kristen J.; Pachter, Nicholas; Ravensc...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 3(2020)
Page Start:
353
Record Type:
Journal Article
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7. WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. (February 2021)

Authors:
Waddell, Leigh B.; Bryen, Samantha J.; Cummings, Beryl B.; Bournazos, Adam; Evesson, Frances J.; Joshi, Himanshu; Marshall, Jamie L.; Tukiainen, Taru; Valkanas, Elise; Weisburd, Ben; Sadedin, Simon; Davis, Mark R.; Faiz, Fathimath; Gooding, Rebecca; Sandaradura, Sarah A.; O'Grady, Gina L.; Tchan,...
Journal:
Neurology
Issue:
Volume 7:Number 1(2021)
Page Start:
Record Type:
Journal Article
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