Rachel Earl, PhD

Department Affiliations

Recent Publications

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
(2020 Oct 21)
Nat Commun 11(1): 5398
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF, SPARK Consortium., Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
(2020 Oct 1)
Nat Commun 11(1): 4932
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF, SPARK Consortium., Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE

The Autism Biomarkers Consortium for Clinical Trials (ABC-CT): Scientific Context, Study Design, and Progress Toward Biomarker Qualification.
(2020)
Front Integr Neurosci 14(): 16
McPartland JC, Bernier RA, Jeste SS, Dawson G, Nelson CA, Chawarska K, Earl R, Faja S, Johnson SP, Sikich L, Brandt CA, Dziura JD, Rozenblit L, Hellemann G, Levin AR, Murias M, Naples AJ, Platt ML, Sabatos-DeVito M, Shic F, Senturk D, Sugar CA, Webb SJ, Autism Biomarkers Consortium for Clinical Trials.

Trauma and Autism Spectrum Disorder: Review, Proposed Treatment Adaptations and Future Directions.
(2019 Dec)
J Child Adolesc Trauma 12(4): 529-547
Peterson JL, Earl R, Fox EA, Ma R, Haidar G, Pepper M, Berliner L, Wallace A, Bernier R

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
(2019 Nov 7)
Am J Hum Genet 105(5): 947-958
Giannuzzi G, Schmidt PJ, Porcu E, Willemin G, Munson KM, Nuttle X, Earl R, Chrast J, Hoekzema K, Risso D, Männik K, De Nittis P, Baratz ED, 16p11.2 Consortium., Herault Y, Gao X, Philpott CC, Bernier RA, Kutalik Z, Fleming MD, Eichler EE, Reymond A

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