Sarah L Sawyer

Sarah L Sawyer

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Sarah L Sawyer

Sarah L Sawyer

Publications by authors named "Sarah L Sawyer"

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22Publications

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Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.

Pediatr Dev Pathol 2019 May-Jun;22(3):258-264. Epub 2018 Aug 13.

1 Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

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http://journals.sagepub.com/doi/10.1177/1093526618787736
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http://dx.doi.org/10.1177/1093526618787736DOI Listing
September 2019

Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 20;177(1):101-109. Epub 2017 Nov 20.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.b.32610
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http://dx.doi.org/10.1002/ajmg.b.32610DOI Listing
January 2018

H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.

Pediatr Blood Cancer 2017 Dec 16;64(12). Epub 2017 May 16.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1002/pbc.26633DOI Listing
December 2017

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

Am J Med Genet A 2017 Jul 9;173(7):1839-1847. Epub 2017 May 9.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38250DOI Listing
July 2017

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

Eur J Med Genet 2015 Jun-Jul;58(6-7):351-4. Epub 2015 May 13.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.04.006DOI Listing
March 2016

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.

Neurol Genet 2016 Feb 22;2(1):e38. Epub 2015 Dec 22.

Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817904PMC
February 2016

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Hum Mol Genet 2015 Oct 7;24(R1):R60-6. Epub 2015 Jul 7.

Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1093/hmg/ddv254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572000PMC
October 2015

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Hum Mol Genet 2015 Sep 17;24(18):5109-14. Epub 2015 Jun 17.

ANZAC Research Institute, University of Sydney, Concord Hospital, New South Wales, Australia.

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http://dx.doi.org/10.1093/hmg/ddv229DOI Listing
September 2015

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

Am J Med Genet A 2015 Jun 21;167(6):1337-41. Epub 2015 Apr 21.

Division of Otolaryngology, Head and Neck Surgery, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36969DOI Listing
June 2015

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Cancer Discov 2015 Feb 3;5(2):135-42. Epub 2014 Dec 3.

Department of Cancer Biology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Department of Pathology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1158/2159-8290.CD-14-1156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320660PMC
February 2015

Identification of genes for childhood heritable diseases.

Annu Rev Med 2014 ;65:19-31

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1 Canada; email: , , , , .

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http://dx.doi.org/10.1146/annurev-med-101712-122108DOI Listing
September 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Recent advances in the genetic etiology of brain malformations.

Curr Neurol Neurosci Rep 2013 Aug;13(8):364

Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, Canada, K1H 8L1.

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http://dx.doi.org/10.1007/s11910-013-0364-1DOI Listing
August 2013

Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.

Am J Med Genet A 2013 May 26;161A(5):1148-53. Epub 2013 Mar 26.

Department of Medical Genetics, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35827DOI Listing
May 2013

Linkage disequilibrium patterns vary substantially among populations.

Eur J Hum Genet 2005 May;13(5):677-86

Center for Genomics and Bioinformatics, Karolinska Institute, Berzelius väg 35, Stockholm 17177, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201368DOI Listing
May 2005

Haplotype block structures show significant variation among populations.

Genet Epidemiol 2004 Dec;27(4):385-400

Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

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http://dx.doi.org/10.1002/gepi.20026DOI Listing
December 2004

Scoring insertion-deletion polymorphisms by dynamic allele-specific hybridization.

Biotechniques 2003 Aug;35(2):292-6, 298

Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.2144/03352st01DOI Listing
August 2003