Saadet Andrews

基本信息

Career Trajectory

Bio

Her clinical research interests include creatine deficiency disorders, pyridoxine dependent epilepsy, inherited neurotransmitter disorders. She provides genetic diagnostics for epilepsy and pediatric movement disorders.
Dr. Andrews and her team characterized first knock-out aldh7a1 zebrafish to study neuropathogenesis of pyridoxine dependent epilepsy.

Research Interests

Papers共 84 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选

Evaluation of the Diagnostic Accuracy of Exome Sequencing and Its Impact on Diagnostic Thinking for Patients with Rare Disease in a Publicly Funded Health Care System: A Prospective Cohort Study

Taila Hartley,Deborah Marshall,Meryl Acker,Katharine Fooks,Meredith K. Gillespie,E. Magda Price,Ian D. Graham,Alexandre White-Brown, Layla MacKay,Stella K. Macdonald,Lauren Brady, Angela Y. Hui, Joseph D. Andrews, Ashfia Chowdhury,Erika Wall, Elisabeth Soubry,Grace U. Ediae,Samantha Rojas,Daniel Assamad,David Dyment,Mark Tarnopolsky, Sarah L. Sawyer,Caitlin Chisholm,Gabrielle Lemire, Kimberly Amburgey,Joanna Lazier,Roberto Mendoza-Londono,James J. Dowling,Tugce B. Balci,Christine M. Armour,Priya T. Bhola,Gregory Costain,Lucie Dupuis,Melissa Carter,Lauren Badalato,Julie Richer, Christie Boswell-Patterson,Peter Kannu,Dawn Cordeiro,Jodi Warman-Chardon,Gail Graham,Victoria Mok Siu,Cheryl Cytrynbaum,Alison Rusnak,Ritu B. Aul,Grace Yoon,Hernan Gonorazky,Vanda McNiven,Saadet Mercimek-Andrews,Andrea Guerin,Ashish R. Deshwar,Ashish Marwaha,Rosanna Weksberg,Natalya Karp, Maggie Campbell, Sarah Al-Qattan,Andrew Y. Shuen,Michal Inbar-Feigenberg,Ronald Cohn,Anna Szuto,Cara Inglese, Myriam Poirier,Lauren Chad,Beth Potter,Kym M. Boycott,Robin Hayeems

GENETICS IN MEDICINEno. 2 (2024)

Cited0Views0WOSBibtex

Dodecyl Creatine Ester Therapy: from Promise to Reality

Aloïse Mabondzo,Jiddeke van de Kamp,Saadet Mercimek-Andrews

Cellular and molecular life sciences（2024）

Cited0Views0WOSBibtex

Genetic Landscape of Primary Mitochondrial Disorders Due to Pathogenic Variants in the Mitochondrial and Nuclear Genome in Childhood and Adulthood

Saadet Mercimek-Andrews, Anastasia Ambrose,Saloni Sharma, Dan Zhang,Shalini Bahl,Clara Hung,Shailly Jain,Alicia Chan

Molecular Genetics and Metabolismno. 4 (2024): 108234-108234

Cited0Views0Bibtex

Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency

Zahra Nasseri Moghaddam, Emily K Reinhardt,Audrey Thurm,Beth K Potter,Maureen Smith, Celeste Graham, Beth H Tiller,Steven A Baker,Deborah A Bilder, Regina Bogar, Jacobus Britz, Rachel Cafferty, Daniel P Coller,Ton J DeGrauw, Vicky Hall,Gerald S Lipshutz,Nicola Longo,Saadet Mercimek-Andrews,Judith S Miller,Marzia Pasquali,Gajja S Salomons,Andreas Schulze, Celine P Wheaton, Kayla F Williams,Sarah P Young, Jasmine Li, Sofia Balog, Theresa Selucky, Sylvia Stockler-Ipsiroglu,Heidi Wallis

medRxiv the preprint server for health sciences (2024)

Cited0Views0WOSBibtex

Coagulation Abnormalities and Vascular Complications Are Common in PGM1-CDG

Silvia Radenkovic, Sofie Bleukx,Nicole Engelhardt,Erik Eklund,Saadet Mercimek-Andrews,Andrew C. Edmondson,Eva Morava

MOLECULAR GENETICS AND METABOLISMno. 4 (2024)

Cited0Views0WOSBibtex

Frontiers in Congenital Disorders of Glycosylation Consortium, a Cross-Sectional Study Report at Year 5 of 280 Individuals in the Natural History Cohort

Christina Lam,Fernando Scaglia,Gerard T. Berry,Austin Larson,Kyriakie Sarafoglou,Hans C. Andersson,Evgenia Sklirou,Queenie K. G. Tan,Rodrigo T. Starosta,Mustafa Sadek,Lynne Wolfe, Seishu Horikoshi,May Ali,Rita Barone, Teresa Campbell,Irene J. Chang, Kiaira Coles,Edward Cook,Erik A. Eklund,Nicole M. Engelhardt, Mary Freeman,Jennifer Friedman, Debbie Y. T. Fu, Grace Botzo, Brandy Rawls, Christien Hernandez,Christin Johnsen,Kierstin Keller, Sara Kramer, Bryce Kuschel, Angela Leshinski,Ivan Martinez-Duncker,Gina L. Mazza,Saadet Mercimek-Andrews,Bradley S. Miller,Karthik Muthusamy,Juanita Neira,Marc C. Patterson, Natalie Pogorelc, Lex N. Powers, Elizabeth Ramey,Michaela Reinhart,Audrey Squire,Jenny Thies Af,Jerry Vockley, Hayden Vreugdenhil,Peter Witters, Mehdi Youbi, Aziza Zeighami,Roni Zemet,Andrew C. Edmondson,Eva Morava

MOLECULAR GENETICS AND METABOLISMno. 4 (2024)

Cited0Views0WOSBibtex

Author Response for "dissecting CASK: Novel Splice Site Variant Associated with Male MICPCH Phenotype"

Karina C. Silveira, Anastasia Ambrose,Taryn Athey, Sherryl Taylor,Saadet Mercimek‐Andrews, Peter Kannu

crossref（2024）

Cited0Views0Bibtex

ClinGen Variant Curation Expert Panel Recommendations for Classification of Variants in GAMT, GATM and SLC6A8 for Cerebral Creatine Deficiency Syndromes

Jennifer Goldstein,Amanda Thomas-Wilson,Emily Groopman,Vimla Aggarwal,Simona Bianconi,Raquel Fernandez,Kim Hart,Nicola Longo, Nicole Liang, Daniel Reich,Heidi Wallis,Meredith Weaver,Sarah Young,Saadet Mercimek-Andrews

Molecular Genetics and Metabolismno. 1 (2024): 108362-108362

Cited0Views0WOSBibtex

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue Across All Subtypes of Alexander Disease

Thais Armangue,Matthew T. Whitehead,Davide Tonduti,Laura Farina,Ali Reza Tavasoli,Arastoo Vossough,Mariko L. Bennett,Ylenia Vaia,Genevieve Bernard,Ettore Salsano,Saadet Mercimek-Andrews,Amy Waldman,Adeline Vanderver

AMERICAN JOURNAL OF NEURORADIOLOGY (2024)

Cited0Views0WOSBibtex

Author Statistics

Co-Author

Co-Institution

D-Core

合作者
学生
导师

No result temporarily, you can search similar Scholar with the same research interest

Data Disclaimer

The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn

Associate Professor

Papers共 84 篇Author StatisticsCo-AuthorSimilar Experts