Saadet Mercimek-Andrews

Saadet Mercimek-Andrews

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Saadet Mercimek-Andrews

Saadet Mercimek-Andrews

Publications by authors named "Saadet Mercimek-Andrews"

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19Publications

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Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.

Neuroscience 2019 Sep 2. Epub 2019 Sep 2.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neuroscience.2019.08.016DOI Listing
September 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.

Eur J Hum Genet 2018 12 23;26(12):1867-1870. Epub 2018 Aug 23.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1038/s41431-018-0237-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244406PMC
December 2018

Genetic landscape of pediatric movement disorders and management implications.

Neurol Genet 2018 Oct 26;4(5):e265. Epub 2018 Sep 26.

Division of Clinical and Metabolic Genetics (D.C., G.B., R.D.C., S.M.-A.), Department of Pediatrics, Toronto, Ontario, Canada; Department of Medical Genetics (K.S.), University of Alberta, Edmonton, Canada; Department of Pediatrics (A.E., J.K., R.D.C., S.M.-A.), University of Toronto; the Emergency Medicine Division (A.E.), Department of Paediatrics, The Hospital for Sick Children; Division of Neurology (J.K.), Department of Paediatrics, The Hospital for Sick Children,; Genetics and Genome Biology Program (R.D.C., S.M.-A.), Research Institute, The Hospital for Sick Children; and Institute of Medical Sciences (S.M.-A.), University of Toronto, Toronto, Ontario, 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.0000000000000265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167181PMC
October 2018

Outcome of Patients With Inherited Neurotransmitter Disorders.

Can J Neurol Sci 2018 09 15;45(5):571-576. Epub 2018 Aug 15.

1Department of Pediatrics,Division of Clinical and Metabolic Genetics,University of Toronto,Toronto,Ontario,Canada.

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https://www.cambridge.org/core/product/identifier/S031716711
Publisher Site
http://dx.doi.org/10.1017/cjn.2018.266DOI Listing
September 2018

Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.

Am J Med Genet A 2018 06 16;176(6):1411-1415. Epub 2018 Apr 16.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38696DOI Listing
June 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Eur J Paediatr Neurol 2018 May 16;22(3):369-379. Epub 2018 Feb 16.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.02.007DOI Listing
May 2018

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.

Genet Med 2018 04 17;20(5):486-494. Epub 2017 Aug 17.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2017.129DOI Listing
April 2018

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.

Am J Med Genet A 2018 02 30;176(2):399-403. Epub 2017 Nov 30.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38530DOI Listing
February 2018

Infantile-onset hand dystonia with intellectual disability: Clues to mutations.

Neurology 2018 02 17;90(7):333-335. Epub 2018 Jan 17.

From Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital (D.P.B., A.E.L.) and the Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children (S.M.-A), Toronto, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000004972DOI Listing
February 2018

Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.

Can J Neurol Sci 2018 01 16;45(1):93-96. Epub 2017 Nov 16.

1Department of Pediatrics,Division of Clinical and Metabolic Genetics,University of Toronto,Toronto,Ontario,Canada.

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http://dx.doi.org/10.1017/cjn.2017.246DOI Listing
January 2018