Search Results - "Earl, Rachel K."

Developmental changes in infant brain activity during naturalistic social experiences by Jones, Emily J. H., Venema, Kaitlin, Lowy, Rachel, Earl, Rachel K., Webb, Sara Jane

“…ABSTRACT Between 6 and 12 months, typically developing infants undergo a socio‐cognitive “revolution.” The Interactive Specialization (IS) theory of brain…”
Get full text

Pubertal maturation and timing effects on resting state electroencephalography in autistic and comparison youth by Rea, Hannah M, Clawson, Ann, Hudac, Caitlin M, Santhosh, Megha, Bernier, Raphael A, Earl, Rachel K, Pelphrey, Kevin A, Webb, Sara Jane, Neuhaus, Emily

“…Autistic and comparison individuals differ in resting-state electroencephalography (EEG), such that sex and age explain variability within and between groups…”
Get full text

GIGYF1 disruption associates with autism and impaired IGF-1R signaling by Chen, Guodong, Yu, Bin, Tan, Senwei, Tan, Jieqiong, Jia, Xiangbin, Zhang, Qiumeng, Zhang, Xiaolei, Jiang, Qian, Hua, Yue, Han, Yaoling, Luo, Shengjie, Hoekzema, Kendra, Bernier, Raphael A, Earl, Rachel K, Kurtz-Nelson, Evangeline C, Idleburg, Michaela J, Madan-Khetarpal, Suneeta, Clark, Rebecca, Sebastian, Jessica, Fernandez-Jaen, Alberto, Alvarez, Sara, King, Staci D, Ramos, Luiza L.P, Santos, Mara Lucia S.F, Martin, Donna M, Brooks, Dan, Symonds, Joseph D, Cutcutache, Ioana, Pan, Qian, Hu, Zhengmao, Yuan, Ling, Eichler, Evan E, Xia, Kun, Guo, Hui

“…Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with a strong genetic component. An excess of likely gene-disruptive (LGD)…”
Get full text

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency by Earl, Rachel K, Turner, Tychele N, Mefford, Heather C, Hudac, Caitlin M, Gerdts, Jennifer, Eichler, Evan E, Bernier, Raphael A

“…is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with haploinsufficiency exhibit common phenotypic features…”
Get full text

Recent ultra-rare inherited variants implicate new autism candidate risk genes by Wilfert, Amy B., Turner, Tychele N., Murali, Shwetha C., Hsieh, PingHsun, Sulovari, Arvis, Wang, Tianyun, Coe, Bradley P., Guo, Hui, Hoekzema, Kendra, Bakken, Trygve E., Winterkorn, Lara H., Evani, Uday S., Byrska-Bishop, Marta, Earl, Rachel K., Bernier, Raphael A., Zody, Michael C., Eichler, Evan E.

“…Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation contributes significantly to risk. Using whole-genome sequencing data…”
Get full text

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability by Hudac, Caitlin M., Friedman, Nicole R., Ward, Victoria R., Estreicher, Rachel E., Dorsey, Grace C., Bernier, Raphael A., Kurtz-Nelson, Evangeline C., Earl, Rachel K., Eichler, Evan E., Neuhaus, Emily

“…We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and…”
Get full text

Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice by Ding, Zijiao, Huang, Guiyang, Wang, Tianyun, Duan, Weicheng, Li, Hua, Wang, Yirong, Jia, Huiting, Yang, Ziqian, Wang, Kang, Chu, Xufeng, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn, Earl, Rachel K., Han, Yunyun, Feliciano, Pamela, Chung, Wendy K., Eichler, Evan E., Jiang, Man, Xiong, Bo

“…Autism spectrum disorder is characterized by deficits in social communication and restricted or repetitive behaviors. Due to the extremely high genetic and…”
Get full text

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

“…Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that…”
Get full text

Infant social attention: an endophenotype of ASD‐related traits? by Jones, Emily J.H., Venema, Kaitlin, Earl, Rachel K., Lowy, Rachel, Webb, Sara J.

“…Background As a neurodevelopmental disorder, symptoms of ASD likely emerge from a complex interaction between preexisting genetic vulnerabilities and the…”
Get full text

The promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders by Higdon, Roger, Earl, Rachel K, Stanberry, Larissa, Hudac, Caitlin M, Montague, Elizabeth, Stewart, Elizabeth, Janko, Imre, Choiniere, John, Broomall, William, Kolker, Natali, Bernier, Raphael A, Kolker, Eugene

“…Complex diseases are caused by a combination of genetic and environmental factors, creating a difficult challenge for diagnosis and defining subtypes. This…”
Get more information

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

“…Sleep difficulties are pervasive in autism spectrum disorder (ASD), yet how sleep problems relate to underlying biological mechanisms such as genetic etiology…”
Get full text

Trauma and Autism Spectrum Disorder: Review, Proposed Treatment Adaptations and Future Directions by Peterson, Jessica L., Earl, Rachel K., Fox, Emily A., Ma, Ruqian, Haidar, Ghina, Pepper, Micah, Berliner, Lucy, Wallace, Arianne S., Bernier, Raphael A.

“…Empirical investigations of trauma and post-traumatic stress disorder (PTSD) in individuals with autism spectrum disorder (ASD) are lacking despite indications…”
Get full text

Characterizing the autism spectrum phenotype in DYRK1A‐related syndrome by Kurtz‐Nelson, Evangeline C., Rea, Hannah M., Petriceks, Aiva C., Hudac, Caitlin M., Wang, Tianyun, Earl, Rachel K., Bernier, Raphael A., Eichler, Evan E., Neuhaus, Emily

“…Likely gene‐disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and associated with autism spectrum disorder (ASD) and intellectual disability…”
Get full text

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency by Gofin, Yoel, Wang, Tianyun, Gillentine, Madelyn A., Scott, Tiana M., Berry, Aliska M., Azamian, Mahshid S., Genetti, Casie, Agrawal, Pankaj B., Picker, Jonathan, Wojcik, Monica H., Delgado, Mauricio R., Lynch, Sally A., Scherer, Stephen W., Howe, Jennifer L., Bacino, Carlos A., DiTroia, Stephanie, VanNoy, Grace E., O'Donnell‐Luria, Anne, Lalani, Seema R., Graf, William D., Rosenfeld, Jill A., Eichler, Evan E., Earl, Rachel K., Scott, Daryl A.

“…PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss‐of‐function intolerant and…”
Get full text

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort by van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

Get full text

The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects by Coll-Tané, Mireia, Gong, Naihua N, Belfer, Samuel J, van Renssen, Lara V, Kurtz-Nelson, Evangeline C, Szuperak, Milan, Eidhof, Ilse, van Reijmersdal, Boyd, Terwindt, Isabel, Durkin, Jaclyn, Verheij, Michel M M, Kim, Chang N, Hudac, Caitlin M, Nowakowski, Tomasz J, Bernier, Raphael A, Pillen, Sigrid, Earl, Rachel K, Eichler, Evan E, Kleefstra, Tjitske, Kayser, Matthew S, Schenck, Annette

“…Sleep disturbances in autism and neurodevelopmental disorders are common and adversely affect patient's quality of life, yet the underlying mechanisms are…”
Get full text

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders by Jia, Xiangbin, Zhang, Shujie, Tan, Senwei, Du, Bing, He, Mei, Qin, Haisong, Chen, Jia, Duan, Xinyu, Luo, Jingsi, Chen, Fei, Ouyang, Luping, Wang, Jian, Chen, Guodong, Yu, Bin, Zhang, Ge, Zhang, Zimin, Lyu, Yongqing, Huang, Yi, Jiao, Jian, Chen, Jin Yun Helen, Swoboda, Kathryn J, Agolini, Emanuele, Novelli, Antonio, Leoni, Chiara, Zampino, Giuseppe, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Gerard, Benedicte, Ginglinger, Emmanuelle, Richer, Julie, McMillan, Hugh, White-Brown, Alexandre, Hoekzema, Kendra, Bernier, Raphael A, Kurtz-Nelson, Evangeline C, Earl, Rachel K, Meddens, Claartje, Alders, Marielle, Fuchs, Meredith, Caumes, Roseline, Brunelle, Perrine, Smol, Thomas, Kuehl, Ryan, Day-Salvatore, Debra-Lynn, Monaghan, Kristin G, Morrow, Michelle M, Eichler, Evan E, Hu, Zhengmao, Yuan, Ling, Tan, Jieqiong, Xia, Kun, Shen, Yiping, Guo, Hui

“…Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features…”
Get full text

The Baby as Beholder: Adults and Infants Have Common Preferences for Original Art by Krentz, Ursula C, Earl, Rachel K

“…The field of experimental aesthetics and neuroaesthetics has explored the contributions of both objective and subjective factors in the appreciation for art…”
Get full text

Evaluation of the Courage and Confidence Mentor Program as a Tier 2 Intervention for Middle School Students with Identified Internalizing Problems by Cook, Clay R., Xie, Sharon R., Earl, Rachel K., Lyon, Aaron R., Dart, Evan, Zhang, Yanchen

“…Internalizing disorders among youths represent a significant public health concern due to associated risk for future psychopathology, physical health costs,…”
Get full text

Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology by Jacquemont, Sébastien, Huguet, Guillaume, Klein, Marieke, Chawner, Samuel J.R.A, Donald, Kirsten A, van den Bree, Marianne B.M, Sebat, Jonathan, Ledbetter, David H, Constantino, John N, Earl, Rachel K, McDonald-McGinn, Donna M, van Amelsvoort, Therese, Swillen, Ann, O’Donnell-Luria, Anne H, Glahn, David C, Almasy, Laura, Eichler, Evan E, Scherer, Stephen W, Robinson, Elise, Bassett, Anne S, Martin, Christa Lese, Finucane, Brenda, Vorstman, Jacob A.S, Bearden, Carrie E, Gur, Raquel E

“…Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders. In this era of intense genomics discoveries, the landscape of…”
Get full text