Publications by authors named "Rachel Earl"

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Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes.
Hannah R Benavidez, Margaret Johansson, Elizabeth Jones, Hannah Rea, Evangeline C Kurtz-Nelson, Rachel Earl

J Autism Dev Disord· August 2025

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Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.
Caitlin M Hudac, Kelsey Dommer, Monique Mahony, Trent D DesChamps, Brianna Cairney, Rachel Earl

Autism Res· May 2025

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Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A () syndrome.
Hannah M Rea, Sara Jane Webb, Evangeline C Kurtz-Nelson, Caitlin M Hudac, Raphael A Bernier, Rachel Earl

Front Neurosci· January 2025

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Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Caitlin M Hudac, Nicole R Friedman, Victoria R Ward, Rachel E Estreicher, Grace C Dorsey, Rachel K Earl

J Autism Dev Disord· June 2024

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Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
Emily Neuhaus, Hannah Rea, Elizabeth Jones, Hannah Benavidez, Conor Miles, Rachel Earl

J Neurodev Disord· April 2024

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Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice.
Zijiao Ding, Guiyang Huang, Tianyun Wang, Weicheng Duan, Hua Li, Rachel K Earl

Biol Psychiatry· November 2023

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Pubertal maturation and timing effects on resting state electroencephalography in autistic and comparison youth.
Hannah M Rea, Ann Clawson, Caitlin M Hudac, Megha Santhosh, Raphael A Bernier, Rachel K Earl

Dev Psychobiol· November 2023

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Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.
Evangeline C Kurtz-Nelson, Hannah M Rea, Aiva C Petriceks, Caitlin M Hudac, Tianyun Wang, Rachel K Earl

Autism Res· August 2023

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Rachel K Earl

Genet Med· February 2023

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GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Rachel K Earl

J Clin Invest· October 2022

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Rachel K Earl

Genet Med· August 2022

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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Rachel K Earl

Sci Adv· August 2022

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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, Tiana M Scott, Aliska M Berry, Rachel K Earl

Hum Mutat· April 2022

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Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.
Sébastien Jacquemont, Guillaume Huguet, Marieke Klein, Samuel J R A Chawner, Kirsten A Donald, Rachel K Earl

Am J Psychiatry· March 2022

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Transverse position. Using rotation to aid normal birth-OUTcomes following manual rotation (the TURN-OUT trial): a randomized controlled trial.
Bradley de Vries, Hala Phipps, Sabrina Kuah, John Pardey, Geoff Matthews, Rachel Earl

Am J Obstet Gynecol MFM· January 2022

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Sleep Problems in Children with ASD and Gene Disrupting Mutations.
Rachel K Earl, Tracey Ward, Jennifer Gerdts, Evan E Eichler, Raphael A Bernier

J Genet Psychol· December 2021

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Nifedipine for primary dysmenorrhoea.
Rachel A Earl, Rosalie M Grivell

Cochrane Database Syst Rev· December 2021

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Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations.
Evangeline C Kurtz-Nelson, See Wan Tham, Kaitlyn Ahlers, Daniel Cho, Arianne S Wallace, Rachel K Earl

J Autism Dev Disord· September 2021

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Recent ultra-rare inherited variants implicate new autism candidate risk genes.
Amy B Wilfert, Tychele N Turner, Shwetha C Murali, PingHsun Hsieh, Arvis Sulovari, Rachel K Earl

Nat Genet· August 2021

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The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.
Mireia Coll-Tané, Naihua N Gong, Samuel J Belfer, Lara V van Renssen, Evangeline C Kurtz-Nelson, Rachel K Earl

Sci Adv· June 2021

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Madelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Rachel K Earl

Genome Med· April 2021

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Persistent occiput posterior position outcomes following manual rotation: a randomized controlled trial.
Hala Phipps, Jon A Hyett, Sabrina Kuah, John Pardey, Geoff Matthews, Rachel Earl

Am J Obstet Gynecol MFM· March 2021

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A Levy, Andrés Hernández-García, Rachel K Earl

Am J Hum Genet· March 2021

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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Rachel K Earl

Nat Commun· October 2020

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