Works by Siriwardena, Komudi

Results: 15

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 510, doi. 10.1002/ajmg.a.63053

By:

Mainali, Apurba;
Athey, Taryn;
Bahl, Shalini;
Hung, Clara;
Caluseriu, Oana;
Chan, Alicia;
Eaton, Alison;
Ghai, Shailly Jain;
Kannu, Peter;
MacPherson, Melissa;
Niederhoffer, Karen Y.;
Siriwardena, Komudi;
Mercimek‐Andrews, Saadet

Publication type:

Article

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 5, p. 707, doi. 10.1111/epi.12954

By:

Mercimek‐Mahmutoglu, Saadet;
Patel, Jaina;
Cordeiro, Dawn;
Hewson, Stacy;
Callen, David;
Donner, Elizabeth J.;
Hahn, Cecil D.;
Kannu, Peter;
Kobayashi, Jeff;
Minassian, Berge A.;
Moharir, Mahendranath;
Siriwardena, Komudi;
Weiss, Shelly K.;
Weksberg, Rosanna;
Snead, O. Carter

Publication type:

Article

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Published in:

Nephrology Dialysis Transplantation, 2006, v. 21, n. 3, p. 665, doi. 10.1093/ndt/gfi312

By:

Ilaria Longo;
Elisa Scala;
Francesca Mari;
Rossella Caselli;
Chiara Pescucci;
Maria Antonietta Mencarelli;
Caterina Speciale;
Marisa Giani;
Elena Bresin;
Domenica Angela Caringella;
Zvi-Uri Borochowitz;
Komudi Siriwardena;
Ingrid Winship;
Alessandra Renieri;
Ilaria Meloni

Publication type:

Article

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.

Published in:

2019

By:

Hirose, Takuo;
Cabrera-Socorro, Alfredo;
Chitayat, David;
Lemonnier, Thomas;
Féraud, Olivier;
Cifuentes-Diaz, Carmen;
Gervasi, Nicolas;
Mombereau, Cedric;
Ghosh, Tanay;
Stoica, Loredana;
d’Arc Al Bacha, Jeanne;
Yamada, Hiroshi;
Lauterbach, Marcel A.;
Guillon, Marc;
Kaneko, Kiriko;
Norris, Joy W.;
Siriwardena, Komudi;
Blasér, Susan;
Teillon, Jérémie;
Mendoza-Londono, Roberto

Publication type:

journal article

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Published in:

2016

By:

Siddiq, Shabnaz;
Wilson, Brenda J;
Graham, Ian D;
Lamoureux, Monica;
Khangura, Sara D;
Tingley, Kylie;
Tessier, Laure;
Chakraborty, Pranesh;
Coyle, Doug;
Dyack, Sarah;
Gillis, Jane;
Greenberg, Cheryl;
Hayeems, Robin Z;
Jain-Ghai, Shailly;
Kronick, Jonathan B;
Laberge, Anne-Marie;
Little, Julian;
Mitchell, John J;
Prasad, Chitra;
Siriwardena, Komudi

Publication type:

journal article

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0548-2

By:

Siddiq, Shabnaz;
Wilson, Brenda J.;
Graham, Ian D.;
Lamoureux, Monica;
Khangura, Sara D.;
Tingley, Kylie;
Tessier, Laure;
Chakraborty, Pranesh;
Coyle, Doug;
Dyack, Sarah;
Gillis, Jane;
Greenberg, Cheryl;
Hayeems, Robin Z.;
Jain-Ghai, Shailly;
Kronick, Jonathan B.;
Laberge, Anne-Marie;
Little, Julian;
Mitchell, John J.;
Prasad, Chitra;
Siriwardena, Komudi

Publication type:

Article

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0234-9

By:

Mercimek-Mahmutoglu, Saadet;
Sidky, Sarah;
Hyland, Keith;
Patel, Jaina;
Donner, Elizabeth J.;
Logan, William;
Mendoza-Londono, Roberto;
Moharir, Mahendranath;
Raiman, Julian;
Schulze, Andreas;
Siriwardena, Komudi;
Yoon, Grace;
Kyriakopoulou, Lianna

Publication type:

Article

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

Published in:

BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0323-x

By:

Khangura, Sara D.;
Karaceper, Maria D.;
Trakadis, Yannis;
Mitchell, John J.;
Chakraborty, Pranesh;
Tingley, Kylie;
Coyle, Doug;
Grosse, Scott D.;
Kronick, Jonathan B.;
Laberge, Anne-Marie;
Little, Julian;
Prasad, Chitra;
Sikora, Lindsey;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy N.;
Stockler, Sylvia;
Wilson, Brenda J.;
Wilson, Kumanan;
Zayed, Reem

Publication type:

Article

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

Published in:

2015

By:

Khangura, Sara D;
Karaceper, Maria D;
Trakadis, Yannis;
Mitchell, John J;
Chakraborty, Pranesh;
Tingley, Kylie;
Coyle, Doug;
Grosse, Scott D;
Kronick, Jonathan B;
Laberge, Anne-Marie;
Little, Julian;
Prasad, Chitra;
Sikora, Lindsey;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy N;
Stockler, Sylvia;
Wilson, Brenda J;
Wilson, Kumanan;
Zayed, Reem

Publication type:

journal article

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 139, doi. 10.1007/s10545-015-9881-1

By:

Khangura, Sara;
Tingley, Kylie;
Chakraborty, Pranesh;
Coyle, Doug;
Kronick, Jonathan;
Laberge, Anne-Marie;
Little, Julian;
Miller, Fiona;
Mitchell, John;
Prasad, Chitra;
Siddiq, Shabnaz;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy;
Stockler, Sylvia;
Trakadis, Yannis;
Wilson, Brenda;
Wilson, Kumanan;
Potter, Beth

Publication type:

Article

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Published in:

Patient, 2022, v. 15, n. 2, p. 171, doi. 10.1007/s40271-021-00538-8

By:

Chow, Andrea J.;
Pugliese, Michael;
Tessier, Laure A.;
Chakraborty, Pranesh;
Iverson, Ryan;
Coyle, Doug;
Kronick, Jonathan B.;
Wilson, Kumanan;
Hayeems, Robin;
Al-Hertani, Walla;
Inbar-Feigenberg, Michal;
Jain-Ghai, Shailly;
Laberge, Anne-Marie;
Little, Julian;
Mitchell, John J.;
Prasad, Chitra;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy N.;
Stockler, Sylvia

Publication type:

Article

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1714, doi. 10.1002/ajmg.a.35945

By:

Siriwardena, Komudi;
Al‐Maawali, Almundher;
Guerin, Andrea;
Blaser, Susan;
Chitayat, David

Publication type:

Article

Outcomes of patients with cobalamin C deficiency: A single center experience.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 102, doi. 10.1002/jmd2.12179

By:

Bourque, Danielle K.;
Mellin‐Sanchez, Lizbeth E.;
Bullivant, Garrett;
Cruz, Vivian;
Feigenbaum, Anette;
Hewson, Stacy;
Raiman, Julian;
Schulze, Andreas;
Siriwardena, Komudi;
Mercimek‐Andrews, Saadet

Publication type:

Article

Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched‐comparison study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 43, doi. 10.1002/jmd2.12095

By:

Jain‐Ghai, Shailly;
Joffe, Ari R.;
Bond, Gwen Y.;
Siriwardena, Komudi;
Chan, Alicia;
Yap, Jason Y. K.;
Hajihosseini, Morteza;
Dinu, Irina A.;
Acton, Bryan V.;
Robertson, Charlene M. T.

Publication type:

Article

Kidney disease and organ transplantation in methylmalonic acidaemia.

Published in:

Pediatric Transplantation, 2019, v. 23, n. 4, p. N.PAG, doi. 10.1111/petr.13407

By:

Noone, Damien;
Riedl, Magdalena;
Avitzur, Yaron;
Atkison, Paul;
Sharma, Ajay P;
Filler, Guido;
Prasad, Chitra;
Siriwardena, Komudi

Publication type:

Article