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Saadet Mercimek‐Andrews

Cincinnati Children's Hospital Medical Center

25H-index
120Paper Count
2.5KCitation Count
Published Papers 50
Publication Date
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Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using real-world-evidence from Canada
errMolecular Genetics and Metabolism
IF3.5
err2026-03-05
err0
PREAI
errRanda Sultan; Anastasia Ambrose; Shalini Bahl; Clara Hung; Gabriella Horvath; Ramona Salvarinova; Alicia Chan; Shailly Jain-Ghai; Jerry Vockley; Saadet Mercimek-Andrews
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Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey
errJournal of Inherited Metabolic Disease
IF3.8
err2026-01-19
err0
errOAAI
errSarah C. Grünert; Mirjam Langeveld; Lisa Rudolph; Ute Spiekerkoetter; Allan M. Lund; Annalisa Sechi; Halil Tuna Akar; Karolina M. Stepien; Hanım Aghakishili; Amelie S. Lotz-Havla; Klaus G. Parhofer; Saadet Mercimek-Andrews; Havva Yazıcı; Sema Kalkan Uçar; Thomas Scherer; Margreet Wagenmakers; Nur Arslan; Irene Chang; Allie LaTray; Vladimir Bzduch; Ivo Barić; Corina Weigel; Sonja. L. van Ockenburg; Alexander Rennings; Terry G. J. Derks; Alessandro Rossi; David Cassiman; Elaine Murphy
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A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment
errTherapeutic Advances in Rare Disease
IF0
err2026-01-01
err1
PREAI
errAmbrose, Anastasia; McCabe, Morganne; Bahl, Shalini; Sinasac, David; Snyder, Thomas; Mercimek-Andrews, Saadet
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Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study
errPediatric Neurology
IF2.1
err2025-11-01
err0
errOAAI
errMiller, Judith S.; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A.; Becker, Lindsey; Bennett, Amanda E.; Berry, Leandra N.; Berry-Kravis, Elizabeth M.; Bruchey, Aleksandra; Byars, Anna W.; Cimms, Tricia; Cecil, Kim M.; Covello, Maxine; Cubit, Laura S.; Das, Tanvi; Davis, Robert J.; Drye, Madison; Ficicioglu, Can; Fulton, John B.; Goin-Kochel, Robin P.; Guthrie, Whitney; Hallinan, Barbara E.; Hannah-Shmouni, Fady; Gustafson, Kathryn E.; Koeberl, Dwight D.; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D.; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A.; Stone, Caitlin; Sullivan, Nancy R.; Sutton, V. Reid; Thomas, Rebecca P.; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
errAnnals of Neurology
IF7.7
err2025-07-01
err0
errOAAI
errSarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD
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Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review
errHuman Mutation
IF3.7
err2025-06-12
err0
errOAAI
errAnastasia Ambrose; Oana Caluseriu; Saadet Mercimek-Andrews
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Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment
errCLINICAL GENETICS
IF2.3
err2025-04-27
err0
errOAAI
errRanda Sultan; Marta Villa-Lopez; Clara Hung; Morganne McCabe; Oksana Suchowersky; Jordan Urlacher; Saadet Mercimek-Andrews
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Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-03-01
err0
PREAI
errBruel, Ange-Line; Vulto-vanSilfhout, Anneke T.; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Rondeau, Sophie; Rio, Marlene; Lee, Kristen N.; Beil, Adelyn; Suri, Mohnish; Guerin, Francois; Ruault, Valentin; Goldenberg, Alice; Lecoquierre, Francois; Bertsch, Nicole; Anderson, Rhonda; Yang, Xiao-Ru; Inness, Micheil; Rikeros-Orozco, Emi; Palomares-Bralo, Maria; Hayek, Jennifer Cassady; Cech, Jennifer; Jhuraney, Ankita; Kumar, Runjun D.; Mercimek-Andrews, Saadet; Ambrose, Anastasia; Wakeling, Erin N.; Wentzensen, Ingrid M.; Torti, Erin; Gooch, Catherine; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Thauvin-Robinet, Christel
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Neonatal Encephalopathy
errNEUROLOGY-GENETICS
IF3.7
err2025-02-01
err0
PREAI
errAmbrose, Anastasia; Mcniven, Vanda; Wilson, Diane; Tempes, Aleksandra; Underwood, Mary; Chau, Vann; Schulze, Andreas; Wyszynska, Agnieszka; Desch, Karl; Malik, Anna R.; Mercimek-Andrews, Saadet
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Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-11-12
err1
errOAAI
errAmbrose, Anastasia; Bahl, Shalini; Sharma, Saloni; Zhang, Dan; Hung, Clara; Jain-Ghai, Shailly; Chan, Alicia; Mercimek-Andrews, Saadet
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Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-10-23
err1
errOAAI
errHowie, Alison H.; Tingley, Kylie; Inbar-Feigenberg, Michal; Mitchell, John J.; Angel, Kim; Gentle, Jenifer; Smith, Maureen; Offringa, Martin; Butcher, Nancy J.; Campeau, Philippe M.; Chakraborty, Pranesh; Chan, Alicia; Fergusson, Dean; Mamak, Eva; McClelland, Peyton; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Moazin, Zeinab; Rockman-Greenberg, Cheryl; Rupar, C. Anthony; Skidmore, Becky; Stockler, Sylvia; Thavorn, Kednapa; Wyatt, Alexandra; Potter, Beth K.
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Coagulation abnormalities and vascular complications are common in PGM1-CDG
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-08-01
err2
errOAAI
errRadenkovic, Silvia; Bleukx, Sofie; Engelhardt, Nicole; Eklund, Erik; Mercimek-Andrews, Saadet; Edmondson, Andrew C.; Morava, Eva
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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-08-01
err7
PREAI
errLam, Christina; Scaglia, Fernando; Berry, Gerard T.; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C.; Sklirou, Evgenia; Tan, Queenie K. G.; Starosta, Rodrigo T.; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J.; Coles, Kiaira; Cook, Edward; Eklund, Erik A.; Engelhardt, Nicole M.; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y. T.; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L.; Mercimek-Andrews, Saadet; Miller, Bradley S.; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C.; Pogorelc, Natalie; Powers, Lex N.; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-06-01
err0
errOAAI
errKalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan
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Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease
errAMERICAN JOURNAL OF NEURORADIOLOGY
IF3.7
err2024-05-02
err0
PREAI
errArmangue, Thais; Whitehead, Matthew T.; Tonduti, Davide; Farina, Laura; Tavasoli, Ali Reza; Vossough, Arastoo; Bennett, Mariko L.; Vaia, Ylenia; Bernard, Genevieve; Salsano, Ettore; Mercimek-Andrews, Saadet; Waldman, Amy; Vanderver, Adeline
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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err3
PREAI
errGoldstein, Jennifer; Thomas-Wilson, Amanda; Groopman, Emily; Aggarwal, Vimla; Bianconi, Simona; Fernandez, Raquel; Hart, Kim; Longo, Nicola; Liang, Nicole; Reich, Daniel; Wallis, Heidi; Weaver, Meredith; Young, Sarah; Mercimek-Andrews, Saadet
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Dodecyl creatine ester therapy: from promise to reality
errCELLULAR AND MOLECULAR LIFE SCIENCES
IF6.2
err2024-04-17
err0
errOAAI
errMabondzo, Aloise; van de Kamp, Jiddeke; Mercimek-Andrews, Saadet
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Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errMercimek-Andrews, Saadet; Ambrose, Anastasia; Sharma, Saloni; Zhang, Dan; Bahl, Shalini; Hung, Clara; Jain, Shailly; Chan, Alicia
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errSave
Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errGroopman, Emily; Goldstein, Jenny; Dickson, Alexa; Zastrow, Diane; Mohan, Shruthi; Thomas-Wilson, Amanda; Caldovic, Ljubica; Kyle, Emily; Yuzyuk, Tatiana; De Biase, Irene; Simpson, Kara; Kanavy, Dona; Spector, Elaine; Pasquali, Marzia; Rehder, Catherine; Stergachis, Andrew; Whirl-Carlo, Michelle; Baudet, Heather; Hung, Christina; Braverman, Nancy E.; Mercimek-Andrews, Saadet; Weaver, Meredith; Craigen, William; Mao, Rong
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Research Directions

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Co-authors
Cooperation Journals
A
Anthony E. Lang
H-index: 166 · Papers: 1.5K
S
Stephen W. Scherer
H-index: 161 · Papers: 1.1K
C
Carlos López-Otı́n
H-index: 147 · Papers: 689
H
Henry Houlden
H-index: 120 · Papers: 1.5K
E
Enrico Bertini
H-index: 113 · Papers: 1.3K
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