Nifedipine for primary dysmenorrhoea
Earl, Rachel A, Grivell, Rosalie M
Published in Cochrane database of systematic reviews (18.12.2021)
Published in Cochrane database of systematic reviews (18.12.2021)
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Recent ultra-rare inherited variants implicate new autism candidate risk genes
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
Published in Nature genetics (01.08.2021)
Published in Nature genetics (01.08.2021)
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Pubertal maturation and timing effects on resting state electroencephalography in autistic and comparison youth
Rea, Hannah M, Clawson, Ann, Hudac, Caitlin M, Santhosh, Megha, Bernier, Raphael A, Earl, Rachel K, Pelphrey, Kevin A, Webb, Sara Jane, Neuhaus, Emily
Published in Developmental psychobiology (01.11.2023)
Published in Developmental psychobiology (01.11.2023)
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Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability
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
Published in Journal of autism and developmental disorders (01.06.2024)
Published in Journal of autism and developmental disorders (01.06.2024)
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Trauma and Autism Spectrum Disorder: Review, Proposed Treatment Adaptations and Future Directions
Peterson, Jessica L., Earl, Rachel K., Fox, Emily A., Ma, Ruqian, Haidar, Ghina, Pepper, Micah, Berliner, Lucy, Wallace, Arianne S., Bernier, Raphael A.
Published in Journal of child & adolescent trauma (01.12.2019)
Published in Journal of child & adolescent trauma (01.12.2019)
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Journal Article
Developmental changes in infant brain activity during naturalistic social experiences
Jones, Emily J. H., Venema, Kaitlin, Lowy, Rachel, Earl, Rachel K., Webb, Sara Jane
Published in Developmental psychobiology (01.11.2015)
Published in Developmental psychobiology (01.11.2015)
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Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice
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
Published in Biological psychiatry (1969) (15.11.2023)
Published in Biological psychiatry (1969) (15.11.2023)
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GIGYF1 disruption associates with autism and impaired IGF-1R signaling
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
Published in The Journal of clinical investigation (01.10.2022)
Published in The Journal of clinical investigation (01.10.2022)
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Journal Article
Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations
Kurtz-Nelson, Evangeline C., Tham, See Wan, Ahlers, Kaitlyn, Cho, Daniel, Wallace, Arianne S., Eichler, Evan E., Bernier, Raphael A., Earl, Rachel K.
Published in Journal of autism and developmental disorders (01.09.2021)
Published in Journal of autism and developmental disorders (01.09.2021)
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Journal Article
Infant social attention: an endophenotype of ASD‐related traits?
Jones, Emily J.H., Venema, Kaitlin, Earl, Rachel K., Lowy, Rachel, Webb, Sara J.
Published in Journal of child psychology and psychiatry (01.03.2017)
Published in Journal of child psychology and psychiatry (01.03.2017)
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Journal Article
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
Earl, Rachel K, Turner, Tychele N, Mefford, Heather C, Hudac, Caitlin M, Gerdts, Jennifer, Eichler, Evan E, Bernier, Raphael A
Published in Molecular autism (05.10.2017)
Published in Molecular autism (05.10.2017)
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Clinical phenotype of the recurrent 1q21.1 copy-number variant
Bernier, Raphael, Steinman, Kyle J., Reilly, Beau, Wallace, Arianne Stevens, Sherr, Elliott H., Pojman, Nicholas, Mefford, Heather C., Gerdts, Jennifer, Earl, Rachel, Hanson, Ellen, Goin-Kochel, Robin P., Berry, Leandra, Kanne, Stephen, Snyder, LeeAnne Green, Spence, Sarah, Ramocki, Melissa B., Evans, David W., Spiro, John E., Martin, Christa L., Ledbetter, David H., Chung, Wendy K.
Published in Genetics in medicine (01.04.2016)
Published in Genetics in medicine (01.04.2016)
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The Autism Biomarkers Consortium for Clinical Trials (ABC-CT): Scientific Context, Study Design, and Progress Toward Biomarker Qualification
McPartland, James C, Bernier, Raphael A, Jeste, Shafali S, Dawson, Geraldine, Nelson, Charles A, Chawarska, Katarzyna, Earl, Rachel, Faja, Susan, Johnson, Scott P, Sikich, Linmarie, Brandt, Cynthia A, Dziura, James D, Rozenblit, Leon, Hellemann, Gerhard, Levin, April R, Murias, Michael, Naples, Adam J, Platt, Michael L, Sabatos-DeVito, Maura, Shic, Frederick, Senturk, Damla, Sugar, Catherine A, Webb, Sara J
Published in Frontiers in integrative neuroscience (09.04.2020)
Published in Frontiers in integrative neuroscience (09.04.2020)
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The promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders
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
Published in Omics (Larchmont, N.Y.) (01.04.2015)
Published in Omics (Larchmont, N.Y.) (01.04.2015)
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Journal Article
Sleep Problems in Children with ASD and Gene Disrupting Mutations
Earl, Rachel K., Ward, Tracey, Gerdts, Jennifer, Eichler, Evan E., Bernier, Raphael A., Hudac, Caitlin M.
Published in The Journal of genetic psychology (03.09.2021)
Published in The Journal of genetic psychology (03.09.2021)
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Journal Article
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
Giannuzzi, Giuliana, Schmidt, Paul J., Porcu, Eleonora, Willemin, Gilles, Munson, Katherine M., Nuttle, Xander, Earl, Rachel, Chrast, Jacqueline, Hoekzema, Kendra, Risso, Davide, Männik, Katrin, De Nittis, Pasquelena, Baratz, Ethan D., Herault, Yann, Gao, Xiang, Philpott, Caroline C., Bernier, Raphael A., Kutalik, Zoltan, Fleming, Mark D., Eichler, Evan E., Reymond, Alexandre
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
Characterizing the autism spectrum phenotype in DYRK1A-related syndrome
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
Published in Autism research (01.08.2023)
Published in Autism research (01.08.2023)
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Journal Article
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
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.
Published in Human mutation (01.04.2022)
Published in Human mutation (01.04.2022)
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Journal Article
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
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.
Published in Genetics in medicine (01.08.2022)
Published in Genetics in medicine (01.08.2022)
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Journal Article
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
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.
Published in Genetics in medicine (01.02.2023)
Published in Genetics in medicine (01.02.2023)
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