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)

P039: Neuropsychiatric symptom burden of cerebrotendinous xanthomatosis, the importance of diagnosing early, and the impact of CDCA treatment: A US-based survey

Authors: Eichler, Florian ¹, Higuera, Christie ¹, Wishart, Brian ¹, Blanchard, Bobbi ², Bryce, George ², Odedara, Neel ², Laurie, Shawn ², Dutta, Rana ³, Terner-Rosenthal, Jolan ³, Aguilar, Raul ³, Pramparo, Tiziano ³, Vig, Pamela ³, Pickford, Jean ²

Source: In Genetics in Medicine Open 2025 3 Supplement 2

P017: Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): Real-world patient outcomes

Authors: Ferren, Edwin ¹, Hillman, Paul ², Kritzer, Amy ³, Ray, Joseph ⁴, Russi, Alvaro Serrano ⁵, Northrup, Hope ², Roberts, Paige ², Dutta, Rana ⁶, Pramparo, Tiziano ⁶, Terner-Rosenthal, Jolan ⁶, Vig, Pamela ⁶, Steiner, Robert ⁷

Source: In Genetics in Medicine Open 2025 3 Supplement 2

P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel*

Authors: Mohan, Shruthi ¹, DeBiase, Irene ², Yuzyuk, Tatiana ², Dickson, Alexa ³, Pramparo, Tiziano ⁴, Francis, Stephanie ², St. Clair, Pepper ¹, Logan, Rachel ⁵, Cockerell, Randy ¹, Fernandez, Raquel ⁶, Ratzsch, Ashley ⁶, Kyle, Emily ⁶, Weaver, Meredith ⁶, Suchy, Sharon ⁷, Moser, Ann ⁸, Mao, Rong ², Braverman, Nancy ⁹

Source: In Genetics in Medicine Open 2025 3 Supplement 2

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Authors: Pramparo, Tiziano¹ (AUTHOR) tiziano.pramparo@travere.com, Steiner, Robert D.² (AUTHOR), Rodems, Steve¹ (AUTHOR), Jenkinson, Celia¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 1/17/2023, Vol. 18 Issue 1, p1-10. 10p.

Subject Terms: *MEDICAL personnel, *AFRICAN Americans, *GENE silencing, *BILE acids, *GENE frequency

P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1

Authors: Mohan, Shruthi, De Biase, Irene, Yuzyuk, Tatiana, Dickson, Alexa, Pramparo, Tiziano, Francis, Stephanie, Weaver, Meredith, Fernandez, Raquel, Suchy, Sharon, Moser, Ann, Mao, Rong, Braverman, Nancy

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Sparsentan ameliorates glomerular hypercellularity and inflammatory-gene networks induced by IgA1-IgG immune complexes in a mouse model of IgA nephropathy.

Authors: Reily, Colin, Moldoveanu, Zina, Pramparo, Tiziano, Hall, Stacy, Zhi-Qiang Huang, Rice, Terri, Novak, Lea, Komers, Radko, Jenkinson, Celia P., Novak, Jan

Source: American Journal of Physiology: Renal Physiology; May2024, Vol. 326 Issue 5, pF862-F875, 14p

Subject Terms: IGA glomerulonephritis, IMMUNE complexes, LABORATORY mice, KIDNEY failure, MITOGEN-activated protein kinases, ANIMAL disease models

P561: Population-based incidence estimates of classical homocystinuria using the Genome Aggregation Database (gnomAD)

Authors: Pramparo, Tiziano, Blom, Henk, Schwartz, Ida Vanessa, Rodems, Steve, Roth, Frederick

Source: In Genetics in Medicine Open 2023 1(1) Supplement

O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)*

Authors: Pramparo, Tiziano, Chapman, Kimberly, Chen, Ying, Ficicioglu, Can, Levy, Harvey, Thomas, Janet, Vaidya, Sagar, Rodems, Steve, Crushell, Ellen

Source: In Genetics in Medicine Open 2023 1(1) Supplement

Dual inhibition of the endothelin and angiotensin receptor ameliorates renal and inner ear pathologies in Alport mice.

Authors: Cosgrove, Dominic, Gratton, Michael Anne, Madison, Jacob, Vosik, Denise, Samuelson, Gina, Meehan, Daniel, Delimont, Duane, Phillips, Grady, Smyth, Brendan, Pramparo, Tiziano, Jarocki, Diana, Nguyen, Mai, Komers, Radko, Jenkinson, Celia

Source: Journal of Pathology; Jul2023, Vol. 260 Issue 3, p353-364, 12p

Subject Terms: INNER ear diseases, ENDOTHELIN receptors, ANGIOTENSIN receptors, LOSARTAN, ANGIOTENSIN-receptor blockers, FOCAL segmental glomerulosclerosis, HEARING disorders

Company/Entity: JOHN Wiley & Sons Inc.

Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies

Authors: Wynshaw-Boris, Anthony, Pramparo, Tiziano, Youn, Yong Ha, Hirotsune, Shinji

Source: In Seminars in Cell and Developmental Biology 2010 21(8):823-830

Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions

Authors: Hannah, William B., Drumm, Mitchell L., Nykamp, Keith, Pramparo, Tiziano, Steiner, Robert D., Schrodi, Steven J.

Source: In Genetics in Medicine Open 2024 2

Neuroepithelial Stem Cell Proliferation Requires LIS1 for Precise Spindle Orientation and Symmetric Division

Authors: Yingling, Jessica, Youn, Yong Ha, Darling, Dawn, Toyo-oka, Kazuhito, Pramparo, Tiziano, Hirotsune, Shinji, Wynshaw-Boris, Anthony

Source: In Cell 2008 132(3):474-486

Narrowing the deleted region associated with the 15q21 syndrome

Authors: Pramparo, Tiziano, Mattina, Teresa, Gimelli, Stefania, Liehr, Thomas, Zuffardi, Orsetta ^*

Source: In European Journal of Medical Genetics 2005 48(3):346-352

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Multiple freeze-thaw cycles lead to a loss of consistency in poly(A)-enriched RNA sequencing.

Authors: Kellman, Benjamin P., Baghdassarian, Hratch M., Pramparo, Tiziano, Shamie, Isaac, Gazestani, Vahid, Begzati, Arjana, Li, Shangzhong, Nalabolu, Srinivasa, Murray, Sarah, Lopez, Linda, Pierce, Karen, Courchesne, Eric, Lewis, Nathan E.

Source: BMC Genomics; 1/21/2021, Vol. 22 Issue 1, p1-15, 15p

Subject Terms: NUCLEOTIDE sequence, FREEZE-thaw cycles, RNA sequencing, RIBOSOMAL RNA, EXPERIMENTAL design, DATA analysis

Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages.

Authors: Chow, Maggie L.¹, Pramparo, Tiziano^1,2, Winn, Mary E.^3,4, Barnes, Cynthia Carter¹, Hai-Ri Li⁵, Weiss, Lauren⁶, Jian-Bing Fan⁷, Murray, Sarah³, April, Craig⁷, Belinson, Haim², Xiang-Dong Fu⁵, Wynshaw-Boris, Anthony², Schork, Nicholas J.³ nschork@scripps.edu, Courchesne, Eric¹ ecourchesne@ucsd.edu

Source: PLoS Genetics. Mar2012, Vol. 8 Issue 3, Special section p1-14. 14p. 3 Diagrams, 1 Chart, 1 Graph.

Subject Terms: *AUTISM, *DEVELOPMENTAL disabilities, *GENETICS, *GENOMICS, *MOLECULAR genetics

Global Developmental Gene Expression and Pathway Analysis of Normal Brain Development and Mouse Models of Human Neuronal Migration Defects.

Authors: Pramparo, Tiziano, Libiger, Ondrej, Jain, Sonia, Hong Li, Yong Ha Youn, Hirotsune, Shinji, Schork, Nicholas J., Wynshaw-Boris, Anthony

Source: PLoS Genetics. Mar2011, Vol. 7 Issue 3, preceding p1-17. 17p.

Subject Terms: *GENE expression, *NEURAL development, *LABORATORY mice, *GENETIC carriers, *GENETIC mutation, *LISSENCEPHALY, *DYNEIN, *MICROTUBULES, *NEUROLOGICAL disorders, *CELL cycle

Inverted duplications: how many of them are mosaic?

Authors: Pramparo, Tiziano¹, Giglio, Sabrina², Gregato, Giuliana¹, De Gregori, Manuela¹, Patricelli, Maria Grazia¹, Ciccone, Roberto¹, Scappaticci, Susi¹, Mannino, Gaetano³, Lombardi, Claudio⁴, Pirola, Barbara², Giorda, Roberto⁵, Rocchi, Mariano⁶, Zuffardi, Orsetta⁷ zuffardi@unipv.it

Source: European Journal of Human Genetics. Sep2004, Vol. 12 Issue 9, p713-717. 5p.

Subject Terms: *CHROMOSOMES, *MOSAICISM, *CELL lines, *PRENATAL diagnosis, *HUMAN genetics, *GENETICS

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