Saadet Mercimek-Mahmutoglu (S Mercimek-Andrews, Saadet Mercimek-Andrews)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 32

Top Topics

Intellectual Disability

Dna Methylation

Deep Brain Stimulation

Top Venues

American journal of medical genetics. Part A

Journal of inherited metabolic disease

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

This page only lists publications with an associated author ORCID identifier.

Publications

Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Ana Horvath, Thomas Lücke, Cheuk Wing Fung, Suet-Na Wong, Elisenda Cortés-Saladelafont, M Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Mahmutoglu, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, Hatice Serap Sivri, Sven F Garbade, Àngels García-Cazorla, Thomas Opladen
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Nihal Almenabawy, Clara Hung, Iveta Sosova, Saadet Mercimek-Mahmutoglu
Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing. American journal of medical genetics. Part A (2024)
Karina da Costa Silveira, Anastasia Ambrose, Taryn Athey, Sherryl Taylor, Saadet Mercimek-Mahmutoglu, Peter Kannu
Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype. Clinical genetics (2024)
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Ana Horvath, Thomas Lücke, Cheuk Wing Fung, Suet-Na Wong, Elisenda Cortés-Saladelafont, M Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Mahmutoglu, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, Hatice Serap Sivri, Sven F Garbade, Àngels García-Cazorla, Thomas Opladen
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease 47 (3) (2024)
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Ana Horvath, Thomas Lücke, Cheuk Wing Fung, Suet-Na Wong, Elisenda Cortés-Saladelafont, M Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Mahmutoglu, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, Hatice Serap Sivri, Sven F Garbade, Àngels García-Cazorla, Thomas Opladen
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease (2024)
Nihal Almenabawy, Clara Hung, Iveta Sosova, Saadet Mercimek-Mahmutoglu
Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing. American journal of medical genetics. Part A 194 (8) (2024)
Nihal Almenabawy, Clara Hung, Iveta Sosova, Saadet Mercimek-Mahmutoglu
Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing. American journal of medical genetics. Part A 194 (8) (2024)
Nihal Almenabawy, Clara Hung, Iveta Sosova, Saadet Mercimek-Mahmutoglu
Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing. American journal of medical genetics. Part A 194 (8) (2024)
Kirsten Bartels, Samantha Afonso, Lindsay Brown, Claudia Carriles, Raymond H Kim, Joanna Lazier, Saadet Mercimek-Mahmutoglu, Tanya N Nelson, Ian Stedman, Emily Thain, Rachel Vanneste, Lauren Chad
Next generation of free? Points to consider when navigating sponsored genetic testing. Journal of medical genetics (2023)
Apurba Mainali, Taryn Athey, Shalini Bahl, Clara Hung, Oana Caluseriu, Alicia Chan, Alison Eaton, Shailly Jain Ghai, Peter Kannu, Melissa MacPherson, Karen Y Niederhoffer, Komudi Siriwardena, Saadet Mercimek-Mahmutoglu
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics. American journal of medical genetics. Part A (2022)
Anastasia Ambrose, Melissa Sheehan, Shalini Bahl, Taryn Athey, Shailly Ghai-Jain, Alicia Chan, Saadet Mercimek-Mahmutoglu
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic. Orphanet journal of rare diseases 17 (1) (2022)
Monika Gaik, Marija Kojic, Megan R Stegeman, Tulay Oncu-Oner, Anna Kościelniak, Alun Jones, Ahmed Mohamed, Pak Yan Stefanie Chau, Sazia Sharmin, Andrzej Chramiec-Głąbik, Paulina Indyka, Michał Rawski, Anna Biela, Dominika Dobosz, Amanda Millar, Vann Chau, Aycan Ünalp, Michael Piper, Mark C Bellingham, Evan E Eichler, Deborah A Nickerson, Handan Güleryüz, Nour El Hana Abbassi, Konrad Jazgar, Melissa J Davis, Saadet Mercimek-Mahmutoglu, Sultan Cingöz, Brandon J Wainwright, Sebastian Glatt
Functional divergence of the two Elongator subcomplexes during neurodevelopment. EMBO molecular medicine 14 (7) (2022)
Taila Hartley, Élisabeth Soubry, Meryl Acker, Matthew Osmond, Madeline Couse, Meredith K Gillespie, Yoko Ito, Aren E Marshall, Gabrielle Lemire, Lijia Huang, Caitlin Chisholm, Alison J Eaton, E Magda Price, James E Dowling, Arun K Ramani, Roberto Mendoza-Londono, Gregory Costain, Michelle M Axford, Anna Szuto, Vanda McNiven, Nadirah Damseh, Rebekah Jobling, Leanne de Kock, Bahareh A Mojarad, Ted Young, Zhuo Shao, Robin Z Hayeems, Ian D Graham, Mark A Tarnopolsky, Lauren Brady, Christine M Armour, Michael Geraghty, Julie Richer, Sarah Sawyer, Matthew Lines, Saadet Mercimek-Mahmutoglu, Melissa T Carter, Gail Graham, Peter Kannu, Joanna Lazier, Chumei Li, Ritu B Aul, Tugce B Balci, Nomazulu Dlamini, Lauren Badalato, Andrea Guerin, Jagdeep Walia, David Chitayat, Ronald Cohn, Hanna Faghfoury, Cynthia Forster-Gibson, Hernan Gonorazky, Eyal Grunebaum, Michal Inbar-Feigenberg, Natalya Karp, Chantal Morel, Alison Rusnak, Neal Sondheimer, Jodi Warman-Chardon, Priya T Bhola, Danielle K Bourque, Inara Chacon Fonseca, Lauren Chad, Pranesh Chakraborty, Karen Chong, Asif Doja, Elaine Suk-Ying Goh, Maha Saleh, null null, Beth K Potter, Christian R Marshall, David A Dyment, Kristin Kernohan, Kym M Boycott
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Clinical genetics (2022)
César Augusto Pinheiro Ferreira Alves, O Sherbini, F D'Arco, Dora Batia Dyne Steel, Manju A Kurian, F C Radio, Giovanbattista Giovanni Battista Ferrero, Diana Carli, Tartaglia Marco, Tuğçe B Balcı, N N Powell-Hamilton, S A Schrier Vergano, H Reutter, Julia Hoefele, R Günthner, Elizabeth R Roeder, R O Littlejohn, Davor Lessel, Sabine Peters, C Kentros, Kwame Anyane-Yeboa, Claudia B Catarino, Saadet Mercimek-Mahmutoglu, J Denecke, Michael J Lyons, Florentine Radelfahr, Elizabeth Joyce Bhoj, Laura Bryant, Adeline Vanderver
Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors. AJNR. American journal of neuroradiology 43 (7) (2022)
Grace Silver, Shalini Bahl, Dawn Cordeiro, Abhinav Thakral, Taryn Athey, Saadet Mercimek-Mahmutoglu
Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test. Genes 12 (8) (2021)
Vanda McNiven, Daniela Gattini, Iram Siddiqui, Stephane Pelletier, Herbert Brill, Yaron Avitzur, Saadet Mercimek-Mahmutoglu
SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1. American journal of medical genetics. Part A 185 (4) (2021)
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yilmaz Yildiz, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Mahmutoglu, Suet-Na Wong, Toni S Pearson, Dimitrios I Zafeiriou, Jan Kulhánek, Manju A Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, Hatice Serap Sivri, Vincenzo Leuzzi, Georg F Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F Garbade, null null, Angeles García-Cazorla, Thomas Opladen
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines. Nature communications 12 (1) (2021)
Anastasia Minenkova, Erwin E W Jansen, Jessie Cameron, Rob Barto, Thomas Hurd, Lauren MacNeil, Gajja S Salomons, Saadet Mercimek-Mahmutoglu
Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1? PloS one 16 (9) (2021)
Danielle K Bourque, Dawn Cordeiro, Graeme A M Nimmo, Jeff Kobayashi, Saadet Mercimek-Mahmutoglu
Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2021)
Bushra Afroze, Saadet Mercimek-Mahmutoglu
Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 47 (2) (2021)
Danielle K Bourque, Lizbeth E Mellin-Sanchez, Garrett Bullivant, Vivian Cruz, Anette Feigenbaum, Stacy Hewson, Julian Raiman, Andreas Schulze, Komudi Siriwardena, Saadet Mercimek-Mahmutoglu
Outcomes of patients with cobalamin C deficiency: A single center experience. JIMD reports 57 (1) (2020)
Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze, Saadet Mercimek-Mahmutoglu
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders. Orphanet journal of rare diseases 15 (1) (2020)
Asthik Biswas, Pradeep Krishnan, Afsaneh Amirabadi, Susan I Blaser, Saadet Mercimek-Mahmutoglu, Manohar M Shroff
Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses. AJNR. American journal of neuroradiology 41 (10) (2020)
Aaisha Al Balushi, Diana Matviychuk, Rebekah Jobling, Gajja S Salomons, Susan Blaser, Saadet Mercimek-Mahmutoglu
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic. JIMD reports 51 (1) (2019)
Hui Guo, Elisa Bettella, Paul C Marcogliese, Rongjuan Zhao, Jonathan C Andrews, Tomasz Jan Nowakowski, Madelyn A Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H Willemsen, Bregje W van Bon, Tuula Rinne, Servi J C Stevens, Tjitske Kleefstra, Han G Brunner, Helger G Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U Dhar, Deanna J Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, null null, Saadet Mercimek-Mahmutoglu, Jane Juusola, Amy B Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C Mefford, Alison M Muir, Ingrid E Scheffer, Brigid M Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Janneke M Weiss, Quinten Waisfisz, Emilia K Bijlsma, Mariëtte J V Hoffer, Claudia A L Ruivenkamp, Stefano Sartori, Fan Xia, Jill A Rosenfeld, Raphael A Bernier, Michael F Wangler, Shinya Yamamoto, Kun Xia, Alexander P A Stegmann, Hugo J Bellen, Alessandra Murgia, Evan E Eichler
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature communications 10 (1) (2019)
Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek-Mahmutoglu
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses. JIMD reports 50 (1) (2019)
Fady Hannah-Shmouni, Vivian Cruz, Andreas Schulze, Saadet Mercimek-Mahmutoglu
Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome. American journal of medical genetics. Part A 176 (6) (2018)
Danielle Veenma, Dawn Cordeiro, Neal Sondheimer, Saadet Mercimek-Mahmutoglu
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis. European journal of human genetics : EJHG 26 (12) (2018)
Stacy Hewson, Klajdi Puka, Saadet Mercimek-Mahmutoglu
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. American journal of medical genetics. Part A 173 (8) (2017)
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy. American journal of medical genetics. Part A 173 (6) (2017)
Graeme A M Nimmo, Resham Ejaz, Dawn Cordeiro, Peter Kannu, Saadet Mercimek-Mahmutoglu
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. American journal of medical genetics. Part A 176 (2) (2017)
Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Mahmutoglu
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. PloS one 12 (10) (2017)