Alexis R Heidlebaugh - National Human Genome Research Institute, National Institutes of Health

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Monoallelic Variation in DHX9, the Gene Encoding the DExH-box Helicase DHX9, Underlies Neurodevelopment Disorders and Charcot-Marie-Tooth Disease

Daniel G. Calame, Tianyu Guo,Chen Wang,Lillian Garrett,Angad Jolly,Moez Dawood,Alina Kurolap,Noa Zunz Henig,Jawid M. Fatih,Isabella Herman,Haowei Du,Tadahiro Mitani,Lore Becker,Birgit Rathkolb,Raffaele Gerlini,Claudia Seisenberger,Susan Marschall,Jill Hunter,Amanda Gerard,Alexis Heidlebaugh,Thomas Challman,Rebecca C. Spillmann,Shalini N. Jhangiani,Zeynep Coban-Akdemir,Seema Lalani,Lingxiao Liu,Anya Revah-Politi,Alejandro Iglesias,Edwin Guzman,Evan Baugh,Nathalie Boddaert,Sophie Rondeau, Clothide Ormieres,Giulia Barcia,Queenie K. G. Tan,Sophie Isabelle Thiffault,Tomi Pastinen,Kazim Sheikh,Suur Biliciler,Davide Mei,Federico Melani,Vandana Shashi,Yuval Yaron,Mary Steele,Emma Wakeling,Elsebet Ostergaard,Lusine Nazaryan-Petersen,Francisca Millan,Teresa Santiago-Sim,Julien Thevenon,Ange-Line Bruel,Christel Thauvin-Robinet,Denny Popp,Konrad Platzer,Pawel Gawlinski,Wojciech Wiszniewski,Dana Marafi,Davut Pehlivan,Jennifer E. Posey,Richard A. Gibbs,Valerie Gailus-Durner,Renzo Guerrini,Helmut Fuchs,Martin Hrabe de Angelis,Sabine M. Hoelter,Hoi-Hung Cheung,Shen Gu,James R. Lupski

AMERICAN JOURNAL OF HUMAN GENETICS（2023）

引用2浏览0WOS引用

The Phenotypic Presentation of Adult Individuals with SLC6A1-related Neurodevelopmental Disorders

Katrine M. Johannesen,Jimmi Nielsen,Anne Sabers,Bertrand Isidor,Anja A. Kattentidt-Mouravieva,Dominik Zieglgaensberger,Alexis R. Heidlebaugh,Kathryn F. Oetjens, Anna Abuli Vidal,Jakob Christensen,Jacob Tiller,Amber N. Freed,Rikke S. Moller,Guido Rubboli

FRONTIERS IN NEUROSCIENCE（2023）

引用0浏览0WOS引用

SLC6A1 Variant Pathogenicity, Molecular Function and Phenotype: a Genetic and Clinical Analysis

BRAIN（2023）

引用2浏览0WOS引用

Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses

Karen E. Wain,Kasia Tolwinski,Emily Palen,Alexis R. Heidlebaugh,Karahlyn Holdren,Lauren Kasparson Walsh,Matthew T. Oetjens,David H. Ledbetter,Christa Lese Martin

Journal of Personalized Medicine（2021）

引用6浏览0WOS引用

Disclosure of Cardiac Variants of Uncertain Significance Results in an Exome Cohort

T. A. Lawal, K. L. Lewis,J. J. Johnston,A. R. Heidlebaugh, D. Ng, F. G. Gaston-Johansson,W. M. P. Klein,B. B. Biesecker,L. G. Biesecker

Clinical Genetics（2018）

引用16浏览0WOS引用

Knowledge, Motivations, Expectations, and Traits of an African, African-American, and Afro-Caribbean Sequencing Cohort and Comparisons to the Original ClinSeq® Cohort

Katie L. Lewis,Alexis R. Heidlebaugh,Sandra Epps,Paul K. J. Han,Kristen P. Fishler,William M. P. Klein,Ilana M. Miller,David Ng,Charlotte Hepler,Barbara B. Biesecker,Leslie G. Biesecker

Genetics in Medicine（2018）

引用25浏览0WOS引用

Web Platform Vs In-Person Genetic Counselor for Return of Carrier Results from Exome Sequencing A Randomized Clinical Trial

Barbara B. Biesecker,Katie L. Lewis,Kendall L. Umstead,Jennifer J. Johnston,Erin Turbitt,Kristen P. Fishier,John H. Patton,Ilana M. Miller,Alexis R. Heidiebaugh,Leslie G. Biesecker

JAMA INTERNAL MEDICINE（2018）

引用62浏览0WOS引用

A Randomized Controlled Study of a Consent Intervention for Participating in an NIH Genome Sequencing Study

Erin Turbitt, Paola P Chrysostomou,Holly L Peay,Alexis R Heidlebaugh,Lawrence M Nelson,Barbara B Biesecker

European Journal of Human Geneticsno. 5 (2018): 622-630

引用11浏览0WOSNATURE引用

A RANDOMIZED CONTROLLED TRIAL COMPARING TWO CONSENT INTERVENTIONS FOR ENROLLMENT INTO A SEQUENCING STUDY

Erin Turbitt,Paola Chrysostomou,Alexis Heidlebaugh,Barbara B. Biesecker

ANNALS OF BEHAVIORAL MEDICINE（2017）

引用0浏览0引用

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