Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Authors: Li, Jianqiao, Hojlo, Margaret A, Chennuri, Sampath, Gujral, Nitin, Paterson, Heather L, Shefchek, Kent A, Genetti, Casie A, Cohn, Emily L, Sewalk, Kara C, Garvey, Emily A, Buttermore, Elizabeth D, Anderson, Nickesha C, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, John S, Haendel, Melissa A, Holm, Ingrid A, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A

Source: Journal of Medical Internet Research, Vol 23, Iss 3, p e21023 (2021)

Subject Terms: Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: https://www.jmir.org/2021/3/e21023; https://doaj.org/toc/1438-8871

Access URL: https://doaj.org/article/4b564d19670844b6a787c71480c30e1c

Return of genetic research results in 21,532 individuals with autism

Authors: Aarrestad, Alexandria, Abbeduto, Leonard, Aberbach, Gabriella, Aberle, Shelley, Adegbite, Adediwura, Adeniji, Debbie, Aguilar, Maria, Ahlers, Kaitlyn, Albright, Charles, Alessandri, Michael, Algaze, Zach, Alkazi, Jasem, Amador, Raquel, Amaral, David, Amon, Logan, Amundsen, Leonor, Andrus, Alicia, Anglo, Claudine, Annett, Robert, Arar, Adam, Arnold, Jonathan, Arriaga, Ivette, Arzate, Eduardo, Ashley, Raven, Aslamy, Leilemah, Baalman, Kelli, Baer, Melissa, Bahi, Ethan, Bailey, Joshua, Baldlock, Zachary, Banks, Grabrielle, Baraghoshi, Gabriele, Bardett, Nicole, Barrett, Mallory, Bartholomew, Yan, Bates, Heidi, Beard, Katie, Becerra, Juana, Beckwith, Malia, Beechan, Paige, Beeson, Landon, Beeson, Josh, Bell, Brandi, Belli, Monica, Bentley, Dawn, Berger, Natalie, Berman, Anna, Bernier, Raphael, Berry-Kravis, Elizabeth, Berwanger, Mary, Birdwell, Shelby, Blank, Elizabeth, Bond, Rebecca, Booker, Stephanie, Bordofsky, Aniela, Bower, Erin, Bowers, Lukas, Bradley, Catherine, Brayer, Heather, Brewster, Stephanie, Brown, Hallie, Brown, Alison, Brown, Melissa, Buck, Catherine, Buescher, Cate, Bullon, Kayleigh, Buraima, Joy, Butter, Eric, Caamano, Amalia, Cacciato, Nicole, CaI, Wenteng, Calderon, Norma, Callahan, Kristen, Camba, Alexies, Campo-Soria, Claudia, Caprara, Giuliana, Carbone, Paul, Carpenter, Laura, Carpenter, Sarah, Casseus, Myriam, Casten, Lucas, Catherine, Sullivan, Chappo, Ashley, Chavez, Kimberly, Cheathem-Johnson, Randi, Chen, Tia, Chintalapalli, Sharmista, Cho, Daniel, Choi, Y.B., Clark, Nia, Clark, Renee, Coffman, Marika, Coleman, Laura, Coleman, Kendra, Collins, Alister, Columbi, Costanza, Comitre, Joaquin, Constant, Stephanie, Contra, Arin, Conyers, Sarah, Cooper, Lindsey, Cooper, Cameron, Coppola, Leigh, Corlett, Allison, Corrales, Lady, Correa, Dahriana, Cottrell, Hannah, Coughlin, Michelle, Courchesne, Eric, Coury, Dan, Crocetti, Deana, Croson, Carrie, Crowell, Judith, Cubells, Joseph, Cunningham, Sean, Currin, Mary, Cutri, Michele, D'Ambrosi, Sophia, David, Giancarla, Davis, Ayana, Davis, Sabrina, Decius, Nickelle, Delaporte, Jennifer, DeMarco, Lindsey, Dennis, Brandy, Deronda, Alyssa, Dhawan, Esha, Dichter, Gabriel, Doan, Ryan, Dominick, Kelli, Ortega, Leonardo Dominquez, Doyle, Erin, Drayton, Andrea, DuBois, Megan, Dudley, Johnny, Duhon, Gabrielle, Duncan, Grabrielle, Duncan, Amie, Dunlevy, Megan, Dyer, Meaghan, Earl, Rachel, Edmonson, Catherine, Eldred, Sara, Elliott, Nelita, Emery, Brooke, Enright, Barbara, Erb, Sarah, Erickson, Craig, Esler, Amy, Estevez, Liza, Fanta, Anne, Fassler, Carrie, Fatemi, Ali, Fazal, Faris, Featherston, Marilyn, Ferguson, Jonathan, Fish, Angela, Fitzgerald, Kate, Flores, Kathleen, Fombonne, Eric, Foster, Margaret, Fowler, Tiffany, Fox, Emma, Fox, Emily, Francis, Sunday, Frayne, Margot, Froman, Sierra, Fuller, Laura, Galbraith, Virginia, Gallimore, Dakota, Gambrell, Ariana, Gazestani, Vahid, Geisheker, Madeleine R., Gerdts, Jennifer, Geschwind, Daniel, Ghaziuddin, Mohammad, Ghina, Haidar, Given, Erin, Goetz, Mykayla, Gong, Jared, Gonring, Kelsey, Gonzalez, Natalia, Gonzalez, Antonio, Goodwill, Ellie, Gordon, Rachel, Graham, Carter, Gray, Catherine, Grimes, Ellen, Griswold, Anthony, Gu, Pan, Guilfoyle, Janna, Gulsrud, Amanda, Gunderson, Jaclyn, Gunter, Chris, Gupta, Sanya, Gupta, Abha, Gutierrez, Anibal, Gwynette, Frampton, Haidar, Ghina, Hale, Melissa, Haley, Monica, Hall, Lauren K., Hamer, Kira, Hamilton, Piper, Hanna, Nathan, Hardan, Antonio, Harkins, Christina, Harrell, Eldric, Harris, Jill, Harris, Nina, Hayes, Caitlin, Hayse, Braden, Heckers, Teryn, Heerwagen, Kathryn, Hennelly, Daniela, Herbert, Lynette, Hermle, Luke, Hernandez, Briana, Herrera, Clara, Hess, Amy, Heyman, Michelle, Higgins, Lorrin, Phillips, Brittani Hilscher, Hirst, Kathy, Ho, Theodore, Hoffman, Emily, Hojlo, Margaret, Honaker, Makayla, Hong, Michael, Hooks, Gregory, Horner, Susannah, Horton, Danielle, Hounchell, Melanie, Howes, Dain, Huang-Storm, Lark, Hunter, Samantha, Hutter, Hanna, Hyde, Emily, Ibanez, Teresa, Ingram, Kelly, Istephanous, Dalia, Jacob, Suma, Jarratt, Andrea, Jelinek, Anna, Johnson, Mary, Jones, Mya, Jones, Garland, Jones, Mark, Jorgenson, Alissa, Judge, Jessyca, Kalb, Luther, Kalmus, Taylor, Kang, Sungeun, Kangas, Elizabeth, Kanne, Stephen, Kaplan, Hannah, Khan, Sara, Kim, Sophy, Kim, Annes, Kitaygordsky, Alex, Klaiman, Cheryl, Klever, Adam, Koene, Hope, Koomar, Tanner, Koza, Melinda, Kramer, Sydney, Krushena, Meghan, Kurtz-Nelson, Eva, Lamarche, Elena, Lampert, Erica, Lamy, Martine, Landa, Rebecca, Lebron-Cruz, Alexa, Lechniak, Holly, Lee, Soo, Leight, Bruce, Lerner, Matthew, Lesher, Laurie, Lewis, Courtney, Li, Hai, Li, Deana, Libove, Robin, Lillie, Natasha, Limon, Danica, Limpoco, Desi, Lin, Melody, Littlefield, Sandy, Lobisi, Brandon, Locarno, Laura, Long, Nancy, Long, Bailey, Long, Kennadie, Lopez, Marilyn, Lovering, Taylor, Lozano, Ivana, Lucio, Daniella, Luo, Addie, Luu, My-Linh, Lyon, Audrey, Ma, Julia, Madi, Natalie, Malloch, Lacy, Mankaryous, Reanna, Manning, Patricia, Mantey, Alvin, Marini, Richard, Marsden, Alexandra, Marwali, Clarissa, Marzano, Gabriela, Mason, Andrew, Mastel, Sarah, Mathai, Sheena, Matthews, Emily, Matusoff, Emma, Maxim, Clara, McCarthy, Caitlin, McClellen, Lynn, Mccoy, Nicole, McCullough, Kaylen, McDonald, Brooke, McGalliard, Julie, McIntyre, Anne-Marie, McKenna, Brooke, McKenzie, Alexander, McTaggart, Megan, Meinen, Hannah, Melnyk, Sophia, Miceli, Alexandra, Michaels, Sarah, Michaelson, Jacob, Milan, Estefania, Miller, Melissa, Milliken, Anna, Minton, Kyla, Mitchell, Terry, Gunn, Amanda Moffitt, Mohiuddin, Sarah, Money, Gina, Montezuma, Jessie, Mooney, Lindsey, Moore, Margo, Morales-Lara, Amy, Morgan, Kelly, Morotti, Hadley, Morrier, Michael, Munoz, Maria, Lavanderos, Ambar Munoz, Murali, Shwetha, Murillo, Karla, Murray, Kailey, Myhre, Erin, Neely, Jason, Neuhaus, Emily, Newman, Olivia, Nguyen, Richard, Nguyen, Victoria, Nichols, Evelyn, Nicholson, Amy, Niederhauser, Melanie, Norris, Megan, Norton, Shai, Nowell, Kerri, O’Brien, Kaela, O’Meara, Mitchell, O’Neil, Molly, O'Roak, Brian, Ocampo, Edith, Ochoa-Lubinoff, Cesar, Oft, Anna, Orobio, Jessica, Ortiz, Crissy, Ousley, Opal, Oyeyemi, Motunrayo, Pacheco, Lillian, Palacios, Valeria, Palmer, Samiza, Palmeri, Isabella, Pama, Katrina, Pandey, Juhi, Paolicelli, Anna Marie, Parker, Jaylaan, Patterson, Morgan, Pawlowski, Katherine, Pedapati, Ernest, Pepper, Michah, Perrin, Jeremy, Peura, Christine, Phillips, Diamond, Pierce, Karen, Piven, Joseph, Plate, Juhi, Polanco, Jose, Pott-Schmidt, Natalie, Pramparo, Tiziano, Pratt, Taleen, Prock, Lisa, White, Stormi Pulver, Qi, Hongjian, Qiu, Shanping, Queen, Eva, Questel, Marcia, Quinones, Ashley, Rambeck, Desiree, Randall, Shelley, Ranganathan, Vaikunt, Raymond, Laurie, Rayos, Madelyn, Real, Kelly, Rhea, Anna, Rice, Catherine, Richardson, Harper, Riffle, Stacy, Robertson, Tracy, Roby, Erin, Rocha, Ana, Roche, Casey, Rodriguez, Nicki, Rodriguez, Bianca, Roeder, Katherine, Rojas, Daniela, Rosewater, Jacob, Rosselott, Hilary, Runyan, Payton, Russo, Nicole, Rutter, Tara, Ruzzo, Elizabeth, Sahin, Mustafa, Salem, Fatima, Sanchez, Rebecca, Sanders, Muave, Sanderson, Tayler, Sandhu, Sophie, Sanford, Katelyn, Santangelo, Susan, Santulli, Madeline, Sarver, Dustin, Savage, Madeline, Scherr, Jessica, Schneider, Hoa, Schools, Hayley, Schoonover, Gregory, Schultz, Robert, Sebolt, Cheyanne, Shaffer, Rebecca, Shameen, Sana, Sherard, Curry, Shikov, Roman, Shillington, Amelle, Shir, Mojeeb, Shocklee, Amanda, Shrier, Clara, Shulman, Lisa, Siegel, Matt, Simon, Andrea, Simon, Laura, Singh, Arushi, Singh, Vini, Smalley, Devin, Smith, Kaitlin, Smith, Chris, Smith, Ashlyn, Soorya, Latha, Soscia, Julia, Soucy, Aubrie, Stchur, Laura, Steele, Morgan, Srishyla, Diksha, Stamps, Danielle, Sussman, Nicole, Swanson, Amy, Sweeney, Megan, Sziklay, Anthony, Tafolla, Maira, Taiba, Jabeen, Takahashi, Nicole, Terroso, Sydney, Strathearn, Camilla, Thomas, Taylor, Thompson, Samantha, Touchette, Ellyn, Townsend, Laina, Trog, Madison, Tsai, Katherine, Tseng, Angela, Tshering, Paullani, Tso, Ivy, Valicenti-Mcdermott, Maria, VanMetre, Bonnie, VanWade, Candace, Turecki, Samuel, Vargo, Kerrigan, Vattuone, Cristiana, Veenstra-Vanderweele, Jeremy, Vehorn, Alison, Benitez Velazquez, Alan Jesus, Verdi, Mary, Villalobos, Michele, Vrittamani, Lakshmi, Wainer, Allison, Wallace, Jermel, Walston, Corrie, Wang, Jiayaho, Ward, Audrey, Warren, Zachary, Washington, Katherine, Westerkamp, Grace, White, Sabrina, Wink, Logan, Winoto, Fiona, Winters, Sarah, Wodka, Ericka, Xavier, Samantha, Xu, Sidi, Yang, Yi, Yang, WhaJames, Yang, Amy, Yinger, Meredith, Yu, Timothy, Zaro, Christopher, Zha, Cindy, Zhang, Haicang, Zhao, Haoquan, Zick, Allyson, Salmon, Lauren Ziegelmayer, Wright, Jessica R., Astrovskaya, Irina, Barns, Sarah D., Goler, Alexandra, Zhou, Xueya, Shu, Chang, Snyder, LeeAnne Green, Han, Bing, Shen, Yufeng, Volfovsky, Natalia, Hall, Jacob B., Feliciano, Pamela, Chung, Wendy K.

Source: In Genetics in Medicine October 2024 26(10)

Development, education, and services in children with Down syndrome: a cohort analysis from a clinical database.

Authors: Soccorso, Cara, Hojlo, Margaret, Pawlowski, Katherine, Lombardo, Angela, Davidson, Emily, Sargado, Sabrina, DePillis, Rafael, Baumer, Nicole

Source: Frontiers in Psychology; 2024, p1-13, 13p

Subject Terms: DOWN syndrome, AGE groups, LANGUAGE delay, PEDIATRIC therapy, COHORT analysis

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Burden Experienced by Primary Caregivers of Children With Psychotic Disorders and at Clinical High Risk for Psychosis.

Authors: Carroll, Devon, Wales, Meghan, Rintell, L. Sophia, Hojlo, Margaret, Gonzalez-Heydrich, Joseph, Berbert, Laura, Fitzpatrick, Molly, D'Angelo, Eugene, Reed, Mary P.

Source: Journal of the American Psychiatric Nurses Association; May/Jun2024, Vol. 30 Issue 3, p518-531, 14p

Development and implementation of a longitudinal clinical database for down syndrome in a large pediatric specialty clinic: Methodology and feasibility.

Authors: Baumer, Nicole T.¹, Hojlo, Margaret A.¹, Lombardo, Angela M.¹, Milliken, Anna L.¹, Pawlowski, Katherine G.¹, Sargado, Sabrina¹, Soccorso, Cara¹, Davidson, Emily J.¹, Barbaresi, William J.¹

Source: Journal of Intellectual Disabilities. Mar2024, Vol. 28 Issue 1, p196-215. 20p.

Subject Terms: *DOWN syndrome, *CLINICAL trials

Cross-Sectional Analysis of Caregiver-Reported Expressive Language Profiles and Associated Covariates in Individuals with Down Syndrome.

Authors: Spellun, Arielle, Harstad, Elizabeth, Hojlo, Margaret, Milliken, Anna, Pawlowski, Katherine, Sideridis, Georgios, Baumer, Nicole

Source: Journal of Developmental & Behavioral Pediatrics; Jan2024, Vol. 45 Issue 1, pe63-e71, 9p

Co‐occurring conditions in Down syndrome: Findings from a clinical database.

Authors: Baumer, Nicole T., Hojlo, Margaret A., Pawlowski, Katherine G., Milliken, Anna L., Lombardo, Angela M., Sargado, Sabrina, Soccorso, Cara, Davidson, Emily J., Barbaresi, William J.

Source: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Dec2023, Vol. 193 Issue 4, p1-16, 16p

6.25 Characterization of Abnormal Pain and Somatization in Early-Onset Psychosis

Authors: van der Heijden, Hanne C., Goldman, Maria, Ray, Aliza, Golden, Maya, Petty, Carter R., Deaso, Emma, Hojlo, Margaret, Sethna, Navil, Glahn, David C., Gonzalez-Heydrich, Joseph

Source: In Journal of the American Academy of Child & Adolescent Psychiatry October 2024 63(10) Supplement:S289-S289

Response to Letter to the Editor by Palffy and Ghaziuddin.

Authors: Santoro, Stephanie L.^1,2, ssantoro3@mgh.harvard.edu, Baumer, Nicole T.^3,4, Cornacchia, Michelle⁵, Franklin, Catherine⁶, Hart, Sarah J.⁷, Haugen, Kelsey¹, Hojlo, Margaret A.⁴, Horick, Nora⁸, Kishnani, Priya S.⁷, Krell, Kavita¹, McCormick, Andrew⁹, Milliken, Anna L.⁴, Oreskovic, Nicolas M.^1,2, Pawlowski, Katherine G.⁴, Sargado, Sabrina^2,4, Torres, Amy¹, Valentini, Diletta¹⁰, Vellody, Kishore⁹, Skotko, Brian G.^1,2

Source: American Journal of Medical Genetics. Part A; May2023, Vol. 191 Issue 5, p1470-1473, 4p

Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants.

Authors: Hojlo, Margaret A.^1,2,3,4 (AUTHOR), Ghebrelul, Merhawi^4,5 (AUTHOR), Genetti, Casie A.^4,5 (AUTHOR), Smith, Richard^1,2,4,5,6 (AUTHOR), Rockowitz, Shira^4,5,7 (AUTHOR), Deaso, Emma^1,3 (AUTHOR), Beggs, Alan H.^4,5,8 (AUTHOR), Agrawal, Pankaj B.^4,5,8,9 (AUTHOR), Glahn, David C.^1,2,3,4,5,10 (AUTHOR), Gonzalez-Heydrich, Joseph^1,2,3,4,10 (AUTHOR), Brownstein, Catherine A.^1,2,4,5,8 (AUTHOR) catherine.brownstein@childrens.harvard.edu

Source: Genes. Apr2023, Vol. 14 Issue 4, p779. 11p.

Subject Terms: *SCHIZOPHRENIA, *PSYCHOSES, *NEUROBEHAVIORAL disorders, *GENETIC variation

Quality of Life and Family Impact in Down Syndrome, Autism Spectrum Disorder, and Co-occurring Down Syndrome and Autism Spectrum Disorder.

Authors: Soccorso, Cara, Milliken, Anna, Hojlo, Margaret, Pawlowski, Katherine, Weas, Sarah, Sideridis, Georgios, Baumer, Nicole

Source: Journal of Developmental & Behavioral Pediatrics; Apr2023, Vol. 44 Issue 3, pe185-e195, 11p

Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.

Authors: Brownstein, Catherine A., Douard, Elise, Mollon, Josephine, Smith, Richard, Hojlo, Margaret A., Das, Ananth, Goldman, Maria, Garvey, Emily, Cabral, Kristin, Li, Jianqiao, Bowen, Joshua, Rao, Abhijit S., Genetti, Casie, Carroll, Devon, Knowles, Emma E. M., Deaso, Emma, Agrawal, Pankaj B., Beggs, Alan H., D'Angelo, Eugene, Almasy, Laura

Source: American Journal of Psychiatry; Nov2022, Vol. 179 Issue 11, p853-861, 9p

Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.

Authors: Santoro, Stephanie L.^1,2, ssantoro3@mgh.harvard.edu, Baumer, Nicole T.^3,4, Cornacchia, Michelle⁵, Franklin, Catherine⁶, Hart, Sarah J.⁷, Haugen, Kelsey¹, Hojlo, Margaret A.⁴, Horick, Nora⁸, Kishnani, Priya S.⁷, Krell, Kavita¹, McCormick, Andrew⁹, Milliken, Anna L.⁴, Oreskovic, Nicolas M.^1,2, Pawlowski, Katherine G.⁴, Sargado, Sabrina^2,4, Torres, Amy¹, Valentini, Diletta¹⁰, Vellody, Kishore⁹, Skotko, Brian G.^1,2

Source: American Journal of Medical Genetics. Part A; Oct2022, Vol. 188 Issue 10, p3049-3062, 14p

Is Developmental Regression in Down Syndrome Linked to Life Stressors?

Authors: Sargado, Sabrina, Milliken, Anna L., Hojlo, Margaret A., Pawlowski, Katherine G., Deister, Diana, Soccorso, Cara N., Baumer, Nicole T.

Source: Journal of Developmental & Behavioral Pediatrics; Sep2022, Vol. 43 Issue 7, p427-436, 10p

Prevalence of Rate of Deleterious Copy Number Variants Similar in Early Onset Psychosis and Autism Spectrum Disorders: Implications for Clinical Practice

Authors: Brownstein, Catherine, Douard, Elise, Mollon, Josephine, Smith, Richard, Hojlo, Margaret, Garvey, Emily, Cabral, Kristin, Bowen, Joshua, Deaso, Emma, Rao, Abhijit, Genetti, Casie, Carroll, Devon, Knowles, Emma, Agrawal, Pankaj, Beggs, Alan, D’Angelo, Eugene, Almasy, Laura, Saci, Zohra, Moreau, Clara, Huguet, Guillaume, Jacquemont, Sébastien, Glahn, David, Gonzalez-Heydrich, Joseph

Source: In Biological Psychiatry 1 May 2022 91(9) Supplement:S56-S57

Parent Attitudes Toward Enhancing Cognition and Clinical Research Trials in Down Syndrome: A Mixed Methods Study.

Authors: Christensen, Kirsten M., Hojlo, Margaret, Milliken, Anna, Baumer, Nicole T.

Source: Journal of Developmental & Behavioral Pediatrics; Jun/Jul2021, Vol. 42 Issue 5, p380-388, 9p

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4.50 MARKEDLY HIGHER BURDEN OF SCHIZOPHRENIA-ASSOCIATED COPY NUMBER VARIANTS IN VERY EARLY-ONSET PSYCHOSIS (VEOP) COMPARED TO THE ADULT SCHIZOPHRENIA POPULATION

Authors: Brownstein, Catherine, Hojlo, Margaret, Garvey, Emily, D'Angelo, Eugene, Gorman, Mark, Carroll, Devon, Deo, Anthony, Glahn, David, Torres, Alcy, Gonzalez-Heydrich, Joseph

Source: In Journal of the American Academy of Child & Adolescent Psychiatry October 2019 58(10) Supplement:S236-S236