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Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.
Published in:
Pediatric & Developmental Pathology, 2019, v. 22, n. 3, p. 258, doi. 10.1177/1093526618787736
By:
- Al Qawahmed, Raniah;
- Sawyer, Sarah L;
- Vassilyadi, Michael;
- Qin, Wen;
- Boycott, Kym M;
- Michaud, Jean
Publication type:
Article
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Published in:
2017
By:
- Ylikallio, Emil;
- Woldegebriel, Rosa;
- Tumiati, Manuela;
- Isohanni, Pirjo;
- Ryan, Monique M.;
- Stark, Zornitza;
- Walsh, Maie;
- Sawyer, Sarah L.;
- Bell, Katrina M.;
- Oshlack, Alicia;
- Lockhart, Paul J.;
- Shcherbii, Mariia;
- Estrada-Cuzcano, Alejandro;
- Atkinson, Derek;
- Hartley, Taila;
- Tetreault, Martine;
- Cuppen, Inge;
- van der Pol, W. Ludo;
- Candayan, Ayse;
- Battaloglu, Esra
Publication type:
journal article
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 101, doi. 10.1002/ajmg.b.32610
By:
- Balci, Tugce B.;
- Davila, Jorge;
- Lewis, Denice;
- Boafo, Addo;
- Sell, Erick;
- Richer, Julie;
- Nikkel, Sarah M.;
- Armour, Christine M.;
- Tomiak, Eva;
- Lines, Matthew A.;
- Sawyer, Sarah L.
Publication type:
Article
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 338, doi. 10.1002/ajmg.a.63022
By:
- Ediae, Grace Uwaila;
- Lemire, Gabrielle;
- Chisholm, Caitlin;
- Hartley, Taila;
- Eaton, Alison;
- Osmond, Matthew;
- Rojas, Samantha K.;
- Huang, Lijia;
- Gillespie, Meredith;
- Sawyer, Sarah L.;
- Boycott, Kym M.
Publication type:
Article
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3005, doi. 10.1002/ajmg.a.62398
By:
- Lemire, Gabrielle;
- Zheng, Bixia;
- Ediae, Grace U.;
- Zou, Ruobing;
- Bhola, Priya T.;
- Chisholm, Caitlin;
- de Nanassy, Joseph;
- Lo, Bryan;
- Wang, Chunyan;
- Shril, Shirlee;
- El Desoky, Sherif;
- Shalaby, Mohammed;
- Kari, Jameela A.;
- Wang, Xueqi;
- Kernohan, Kristin D.;
- Boycott, Kym M.;
- Hildebrandt, Friedhelm;
- Sawyer, Sarah L.
Publication type:
Article
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1839, doi. 10.1002/ajmg.a.38250
By:
- Malam, Faheem;
- Hartley, Taila;
- Gillespie, Meredith K.;
- Armour, Christine M.;
- Bariciak, Erika;
- Graham, Gail E.;
- Nikkel, Sarah M.;
- Richer, Julie;
- Sawyer, Sarah L.;
- Boycott, Kym M.;
- Dyment, David A.
Publication type:
Article
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1337, doi. 10.1002/ajmg.a.36969
By:
- Liu, Hao;
- Sawyer, Sarah L;
- Gos, Monika;
- Grynspan, David;
- Issa, Kheirie;
- Ramphal, Raveena;
- Rotaru, Carmen;
- Consortium, FORGE Canada;
- Majewski, Jacek;
- Boycott, Kym M;
- Graham, Gail;
- Bromwich, Matthew
Publication type:
Article
Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in FBLN4.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1148, doi. 10.1002/ajmg.a.35827
By:
- Sawyer, Sarah L.;
- Dicke, Frank;
- Kirton, Adam;
- Rajapkse, Thilinie;
- Rebeyka, Ivan M.;
- McInnes, Brenda;
- Parboosingh, Jillian S.;
- Bernier, Francois P.
Publication type:
Article
Linkage disequilibrium patterns vary substantially among populations.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 5, p. 677, doi. 10.1038/sj.ejhg.5201368
By:
- Sawyer, Sarah L.;
- Mukherjee, Namita;
- Pakstis, Andrew J.;
- Feuk, Lars;
- Kidd, Judith R.;
- Brookes, Anthony J.;
- Kidd, Kenneth K.
Publication type:
Article
Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 6, p. 437, doi. 10.1038/sj.ejhg.5200651
By:
- Prince, Jonathan A;
- Feuk, Lars;
- Sawyer, Sarah L;
- Gottfries, Johan;
- Ricksten, Anne;
- Nägga, Katarina;
- Bogdanovic, Nenad;
- Blennow, Kaj;
- Brookes, Anthony J
Publication type:
Article
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 20, p. R60, doi. 10.1093/hmg/ddv254
By:
- McDonell, Laura M.;
- Kernohan, Kristin D.;
- Boycott, Kym M.;
- Sawyer, Sarah L.
Publication type:
Article
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 18, p. 5109, doi. 10.1093/hmg/ddv229
By:
- Sawyer, Sarah L.;
- Cheuk-Him Ng, Andy;
- Innes, A. Micheil;
- Wagner, Justin D.;
- Dyment, David A.;
- Tetreault, Martine;
- Majewski, Jacek;
- Boycott, Kym M.;
- Screaton, Robert A.;
- Nicholson, Garth
Publication type:
Article
H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.
Published in:
2017
By:
- Kernohan, Kristin D.;
- Grynspan, David;
- Ramphal, Raveena;
- Bareke, Eric;
- Wang, You Chang;
- Nizalik, Elizabeth;
- Ragoussis, Jiannis;
- Jabado, Nada;
- Boycott, Kym M.;
- Majewski, Jacek;
- Sawyer, Sarah L.
Publication type:
journal article
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia.
Published in:
Human Mutation, 2014, v. 35, n. 1, p. 45, doi. 10.1002/humu.22451
By:
- Sawyer, Sarah L.;
- Schwartzentruber, Jeremy;
- Beaulieu, Chandree L.;
- Dyment, David;
- Smith, Amanda;
- Chardon, Jodi Warman;
- Yoon, Grace;
- Rouleau, Guy A.;
- Suchowersky, Oksana;
- Siu, Victoria;
- Murphy, Lisa;
- Hegele, Robert A.;
- Marshall, Christian R.;
- Bulman, Dennis E.;
- Majewski, Jacek;
- Tarnopolsky, Mark;
- Boycott, Kym M.
Publication type:
Article
Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection.
Published in:
Human Mutation, 2006, v. 27, n. 2, p. 173, doi. 10.1002/humu.20289
By:
- Fredman, David;
- Sawyer, Sarah L.;
- Strömqvist, Linda;
- Mottagui-Tabar, Salim;
- Kidd, Kenneth K.;
- Wahlestedt, Claes;
- Chanock, Stephen J.;
- Brookes, Anthony J.
Publication type:
Article
Haplotype block structures show significant variation among populations.
Published in:
Genetic Epidemiology, 2004, v. 27, n. 4, p. 385, doi. 10.1002/gepi.20026
By:
- Nianjun Liu;
- Sarah L. Sawyer;
- Namita Mukherjee;
- Andrew J. Pakstis;
- Judith R. Kidd;
- Kenneth K. Kidd;
- Anthony J. Brookes;
- Hongyu Zhao
Publication type:
Article
Negligible validation rate for public domain stop-codon SNPs (Communicated by Richard G. H. Cotton) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html).
Published in:
Human Mutation, 2003, v. 22, n. 3, p. 252, doi. 10.1002/humu.10256
By:
- Sarah L. Sawyer;
- Linda C. Berglind;
- Anthony J. Brookes
Publication type:
Article
Negligible validation rate for public domain stop?codon SNPsCommunicated by Richard G. H. CottonThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html.
Published in:
Human Mutation, 2003, v. 22, n. 3, p. 252, doi. 10.1002/humu.10256
By:
- Sarah L. Sawyer;
- Linda C. Berglind;
- Anthony J. Brookes
Publication type:
Article

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