Nicolas Abreu - Nationwide Children’s Hospital, The Abigail Wexner Research Institute

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个人简介

Interest in phenotyping and novel therapeutics in monogenic causes of neurodevelopmental disabilities

研究兴趣

论文共 35 篇作者统计合作学者相似作者

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Further Delineation of the SCAF4-associated Neurodevelopmental Disorder

Cosima M. Schmid,Anne Gregor,Anna Ruiz, Carmen Manso Bazus,Isabella Herman, Farah Ammouri,Urania Kotzaeridou,Vanda Mcniven,Lucie Dupuis,Katharina Steindl,Anais Begemann,Anita Rauch, Aude-Annick Suter,Bertrand Isidor,Sandra Mercier,Mathilde Nizon,Benjamin Cogne,Wallid Deb,Thomas Besnard,Tobias B. Haack,Ruth J. Falb,Amelie J. Mueller,Tobias Linden, Chad R. Haldeman-Englert,Charlotte W. Ockeloen,Francesca Mattioli,Alexandre Reymond,Nazia Ibrahim,Shagufta Naz,Elodie Lacaze,Jennifer A. Bassetti,Julia Hoefele,Theresa Brunet,Korbinian M. Riedhammer, Houda Z. Elloumi,Richard Person,Fanggeng Zou, Juliette J. Kahle,Kirsten Cremer,Axel Schmidt,Marie-Ange Delrue,Pedro M. Almeida,Fabiana Ramos,Siddharth Srivastava, Aisling Quinlan,Stephen Robertson,Eva Manka,Alma Kuechler,Stephanie Spranger,Malgorzata J. M. Nowaczyk,Reem M. Elshafie,Hind Alsharhan, Paul R. Hillman, Leslie A. Dunnington,Hilde M. H. Braakman,Shane Mckee, Angelica Moresco, Andrea-Diana Ignat,Ruth Newbury-Ecob,Guillaume Banneau,Olivier Patat, Jeffrey Kuerbitz, Susan Rzucidlo, Susan S. Sell,Patricia Gordon,Sarah Schuhmann,Andre Reis, Yosra Halleb,Radka Stoeva,Boris Keren,Zainab Al Masseri,Zeynep Tuemer, Sophia Hammer-Hansen, Sofus Krueger Solyst, Connolly G. Steigerwald,Nicolas J. Abreu, Helene Faust, Amica Mueller-Nedebock,Frederic Tran Mau-Them,Heinrich Sticht,Christiane Zweier

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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CLN2 Disease Resulting from a Novel Homozygous Deep Intronic Splice Variant in TPP1 Discovered Using Long-Read Sequencing

Connolly Steigerwald, Jill Borsuk,John Pappas,Miranda Galey,Anna Scott,Joseph M. Devaney,Danny E. Miller,Nicolas Abreu

Molecular Genetics and Metabolismno. 2 (2024): 108049

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Developmental Skills and Neurorehabilitation for Children With Batten Disease: A Retrospective Chart Review of a Comprehensive Batten Clinic

Rachel Bican, Virginia Goddard,Nicolas Abreu,Danielle Peifer, Andrea Basinger, Michelle Sveda,Kelly Tanner,Emily C. de los Reyes

PEDIATRIC NEUROLOGY（2024）

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Development of the Apbd-Sq, a Novel Patient-Reported Outcome for Health-Related Quality of Life in Adult Polyglucosan Body Disease

Genevieve E. Wilson, Deberah S. Goldman, Harriet Saxe,Xiaochun Li,Judith D. Goldberg,Heather A. Lau,Nicolas J. Abreu

JOURNAL OF THE NEUROLOGICAL SCIENCES (2024)

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Rare Predicted Deleterious FEZF2 Variants Are Associated with a Neurodevelopmental Phenotype

Alison Garber, Lisa S. Weingarten,Nicolas J. Abreu,Houda Zghal Elloumi,Tobias Haack, Clara Hildebrant,Nuria Martinez-Gil,Jennifer Mathews,Amelie Johanna Mueller,Irene Valenzuela Palafoll,Connolly Steigerwald,Wendy K. Chung

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 7 (2024)

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Factors Associated with Underutilization of Genetic Testing in Autism Spectrum Disorders

Nicolas J. Abreu,Madeline Chiujdea,Shanshan Liu,Bo Zhang,Sarah J. Spence

PEDIATRIC NEUROLOGY (2024): 17-23

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Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease

Matthew O'Neal, Ines Noher de Halac,Shawn C. Aylward,Vedat Yildiz,Bianca Zapanta,Nicolas Abreu,Emily de los Reyes

Pediatric Neurology (2024): 51-57

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Relapsing White Matter Disease and Subclinical Optic Neuropathy

Kimberly A O'Neill, Andrew Dugue,Nicolas J Abreu,Laura J Balcer, Marc Branche,Steven Galetta,Jennifer Graves,Ilya Kister,Cynthia Magro, Claire Miller,Scott D Newsome,John Pappas,Janet Rucker,Connolly Steigerwald,Christopher M William,Scott S Zamvil,Scott N Grossman,Lauren B Krupp

Neurology(R) neuroimmunology & neuroinflammationno. 2 (2024): e200194-e200194

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Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease

Andrew G Dugue,Nicolas J Abreu, Cinthi Pillai,Steven L Galetta,Scott N Grossman

Journal of neuro-ophthalmology the official journal of the North American Neuro-Ophthalmology Societyno. 1 (2024): 55-62

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Severe Neurodevelopmental Phenotype, Diagnostic and Treatment Challenges in Patients with SECISBP2 Deficiency

Athanasia Stoupa,Monica Malheiros Franca,Maha Abdulhadi-Atwan,Haruki Fujisawa,Manassawee Korwutthikulrangsri,Isis Marchand,Gabrielle Polak,Jacques Beltrand,Michel Polak,Dulanjalee Kariyawasam,Xiao-Hui Liao, Chantalle Raimondi,Connolly Steigerwald,Nicolas J. Abreu,Andrew J. Bauer,Aurore Carre, Charit Taneja, Allison Bauman Mekhoubad,Alexandra M. Dumitrescu

GENETICS IN MEDICINE（2024）

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