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1993 1
2018 4
2019 1
2021 1
2022 1
2023 2
2024 0

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Page 1
CHD8-Related Neurodevelopmental Disorder with Overgrowth.
Mitchel MW, Myers SM, Heidlebaugh AR, Taylor CM, Rea H, Neuhaus E, Kurtz-Nelson EC, Earl R, Bernier R, Ledbetter DH, Martin CL, Eichler EE. Mitchel MW, et al. Among authors: heidlebaugh ar. 2022 Oct 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 Oct 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 36302072 Free Books & Documents. Review.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Among authors: heidlebaugh ar. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders.
Johannesen KM, Nielsen J, Sabers A, Isidor B, Kattentidt-Mouravieva AA, Zieglgänsberger D, Heidlebaugh AR, Oetjens KF, Vidal AA, Christensen J, Tiller J, Freed AN, Møller RS, Rubboli G. Johannesen KM, et al. Among authors: heidlebaugh ar. Front Neurosci. 2023 Aug 17;17:1216653. doi: 10.3389/fnins.2023.1216653. eCollection 2023. Front Neurosci. 2023. PMID: 37662110 Free PMC article.
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN, Umstead KL, Turbitt E, Alevizos I, Baron J, Bönnemann C, Brooks B, Donkervoort S, Jee YH, Linehan WM, McMahon FJ, Moss J, Mullikin JC, Nielsen D, Pelayo E, Remaley AT, Siegel R, Su H, Zarate C; NISC Comparative Sequencing Program; Manolio TA, Biesecker BB, Biesecker LG. Sapp JC, et al. Among authors: heidlebaugh ar. Am J Hum Genet. 2018 Sep 6;103(3):358-366. doi: 10.1016/j.ajhg.2018.07.018. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122538 Free PMC article.
Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq® cohort.
Lewis KL, Heidlebaugh AR, Epps S, Han PKJ, Fishler KP, Klein WMP, Miller IM, Ng D, Hepler C, Biesecker BB, Biesecker LG. Lewis KL, et al. Among authors: heidlebaugh ar. Genet Med. 2019 Jun;21(6):1355-1362. doi: 10.1038/s41436-018-0341-9. Epub 2018 Nov 1. Genet Med. 2019. PMID: 30382154 Free PMC article.