A Southern Story: Providing Accessible Educational Materials

Authors: Shaheen, Natalie, Curry, Cynthia, National Center on Accessible Educational Materials at CAST, Inc.

Source: National Center on Accessible Educational Materials. 2023.

Peer Reviewed: N

Page Count: 27

Sponsoring Agency: Department of Education (ED)

Descriptors: School Districts, State Departments of Education, Educational Policy, Public Policy, State Policy, Academic Accommodations (Disabilities), Instructional Materials, Students with Disabilities, Case Studies, Elementary Secondary Education, Special Education, Educational Quality, Educational Indicators

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Authors: Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A. ^{1, 2, 3, 4}, Barry, Brenda J. ^{2, 5}, Chan, Wai-Man ^{1, 2, 3, 4, 5}, MacKinnon, Sarah ^{6, 7}, Whitman, Mary C. ^{1, 6, 7}, Matos Ruiz, Paola M. ², Pratt, Brandon M. ², England, Eleina M. ^{8, 9}, Pais, Lynn ^{8, 9}, Lemire, Gabrielle ^{8, 9}, Groopman, Emily ^{8, 9}, Glaze, Carmen ⁸, Russell, Kathryn A. ⁸, Singer-Berk, Moriel ⁸, Di Gioia, Silvio Alessandro ^{1, 2, 3, 4, 10}, Lee, Arthur S. ^{1, 2, 3, 4}, Andrews, Caroline ², Shaaban, Sherin ^{1, 2, 3, 11}, Wirth, Megan M. ², Bekele, Sarah ², Toffoloni, Melissa ², Bradford, Victoria R. ², Foster, Emma E. ², Berube, Lindsay ², Rivera-Quiles, Cristina ², Mensching, Fiona M. ², Sanchis-Juan, Alba ^{8, 12}, Fu, Jack M. ^{8, 12}, Wong, Isaac ^{8, 12}, Zhao, Xuefang ^{8, 12}, Wilson, Michael W. ⁸, Weisburd, Ben ⁸, Lek, Monkol ⁸, Brand, Harrison ^{8, 12, 13}, Talkowski, Michael E. ^{3, 8, 12}, MacArthur, Daniel G. ⁸, O’Donnell-Luria, Anne ^{8, 9, 12}, Robson, Caroline D. ^{14, 15}, Hunter, David G. ^{6, 7}, Engle, Elizabeth C. ^{1, 2, 3, 4, 5, 6, 7, 9, ∗}

Source: In Genetics in Medicine April 2025 27(4)

AEM Center Brief: Accessible Educational Materials in the IEP

Authors: Carl, Diana, Zabala, Joy, Karger, Joanne, Curry, Cynthia, National Center on Accessible Educational Materials at CAST, Inc.

Source: National Center on Accessible Educational Materials. 2021.

Peer Reviewed: N

Page Count: 18

Sponsoring Agency: Office of Special Education Programs (OSEP) (ED/OSERS)

Descriptors: Individualized Education Programs, Academic Accommodations (Disabilities), Students with Disabilities, Student Needs, Printed Materials, Educational Technology, Technology Uses in Education, Accessibility (for Disabled), Blindness, Visual Impairments, Deafness, Hearing Impairments, Federal Legislation, Educational Legislation, Equal Education, Special Education, Student Evaluation, Alternative Assessment, Transitional Programs, Postsecondary Education, Eligibility, Disabilities, Civil Rights Legislation, Student Rights

Laws, Policies and Program Identifiers: Individuals with Disabilities Education Act, Rehabilitation Act 1973 (Section 504), Americans with Disabilities Act 1990

Advancing Digital Accessibility with the AEM Quality Indicators for Higher Education (Practice Brief).

Authors: Harwell, Paul¹, harwellp24@ecu.edu, Goad, Chester², chestergoad@gmail.com, Orr, Kristie³, kristieorr@tamu.edu, Curry, Cynthia⁴, cynthia.curry@usu.edu

Source: Journal of Postsecondary Education & Disability; Winter2024, Vol. 37 Issue 4, p345-350, 6p

Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes

Authors: Galarreta, Carolina I., Hoyt, Erin, Forero, Laura, Curry, Cynthia J., Bird, Lynne M.

Source: American journal of medical genetics.Part A. 191(11):2693-2702

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195876977.0x000001&indx=1&recIds=ETOCvdc_100195876977.0x000001

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

Authors: Wojcik, Monica H., Srivastava, Siddharth, Agrawal, Pankaj B., Balci, Tugce B., Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra‐Clarke, Marina, Edwards, Matthew, Genetti, Casie A., Grange, Dorothy K., Hickey, Scott E., Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M., Lavillaureix, Alinoe, Lyons, Michael J., Marcelis, Carlo, Marco, Elysa J., Martinez‐Agosto, Julian A., Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J., Riberi, Evelise, Rush, Eric T., Russell, Bianca E., Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A., Wilson, Kate, Jansen, Sandra, Vries, Bert B. A., Curry, Cynthia J.

Source: American journal of medical genetics.Part A. 191(7):1900-1910

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194279996.0x000001&indx=1&recIds=ETOCvdc_100194279996.0x000001

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Authors: Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C.E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J.L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., Cooper, Gregory M.

Source: American journal of human genetics. 110(2):215-227

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183952111.0x000001&indx=1&recIds=ETOCvdc_100183952111.0x000001

Procuring Accessible Digital Materials and Technologies for Teaching and Learning: The What, Why, Who, and How

Authors: Curry, Cynthia, Carl, Diana, Pérez, Luis, National Center on Accessible Educational Materials at CAST, Inc.

Source: National Center on Accessible Educational Materials. 2018.

Peer Reviewed: N

Page Count: 6

Sponsoring Agency: Office of Special Education Programs (ED/OSERS)

Descriptors: Educational Technology, Technology Uses in Education, Teaching Methods, Students with Disabilities, Accessibility (for Disabled), Student Needs, Technology Integration, School Responsibility

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Authors: Kumble, Smitha, Levy, Amanda M., Punetha, Jaya, Gao, Hua, Ah Mew, Nicholas, Anyane‐Yeboa, Kwame, Benke, Paul J., Berger, Sara M., Bjerglund, Lise, Campos‐Xavier, Belinda, Ciliberto, Michael, Cohen, Julie S., Comi, Anne M., Curry, Cynthia, Damaj, Lena, Denommé‐Pichon, Anne‐Sophie, Emrick, Lisa, Faivre, Laurence, Fasano, Mary Beth, Fiévet, Alice, Finkel, Richard S., García‐Miñaúr, Sixto, Gerard, Amanda, Gomez‐Puertas, Paulino, Guillen Sacoto, Maria J., Hoffman, Trevor L., Howard, Lillian, Iglesias, Alejandro D., Izumi, Kosuke, Larson, Austin, Leiber, Anja, Lozano, Reymundo, Marcos‐Alcalde, Iñigo, Mintz, Cassie S., Mullegama, Sureni V., Møller, Rikke S., Odent, Sylvie, Oppermann, Henry, Ostergaard, Elsebet, Pacio‐Míguez, Marta, Palomares‐Bralo, Maria, Parikh, Sumit, Paulson, Anna M., Platzer, Konrad, Posey, Jennifer E., Potocki, Lorraine, Revah‐Politi, Anya, Rio, Marlene, Ritter, Alyssa L., Robinson, Scott, Rosenfeld, Jill A., Santos‐Simarro, Fernando, Sousa, Sérgio B., Wéber, Mathys, Xie, Yili, Chung, Wendy K., Brown, Natasha J., Tümer, Zeynep

Source: Human mutation. 43(2):266-282

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139504924.0x000001&indx=1&recIds=ETOCvdc_100139504924.0x000001

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

Authors: Li, Jingjing, Yang, Wei, Wang, Yuejun Jessie, Ma, Chen, Curry, Cynthia J., McGoldrick, Daniel, Nickerson, Deborah A., Chong, Jessica X., Blue, Elizabeth E., Mullikin, James C., Reefhuis, Jennita, Nembhard, Wendy N., Romitti, Paul A., Werler, Martha M., Browne, Marilyn L., Olshan, Andrew F., Finnell, Richard H., Feldkamp, Marcia L., Pangilinan, Faith, Almli, Lynn M., Bamshad, Mike J., Brody, Lawrence C., Jenkins, Mary M., Shaw, Gary M.

Source: American journal of medical genetics.Part A. 188(8):2376-2388

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155932379.0x000001&indx=1&recIds=ETOCvdc_100155932379.0x000001

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Authors: Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Jr., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

Source: In The American Journal of Human Genetics 7 January 2021 108(1):8-15

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

Authors: Zarate, Yuri A., Bosanko, Katherine A., Thomas, Mary Ann, Miller, David T., Cusmano‐Ozog, Kristina, Martinez‐Monseny, Antonio, Curry, Cynthia J., Graham, John M., Velsher, Lea, Bekheirnia, Mir Reza, Seidel, Veronica, Dedousis, Demitrios, Mitchell, Anna L., DiMarino, Amy M., Riess, Angelika, Balasubramanian, Meena, Fish, Jennifer L., Caffrey, Aisling R., Fleischer, Nicole, Pierson, Tyler Mark, Lacro, Ronald V.

Source: Clinical genetics. 99(4):547-557

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117923132.0x000001&indx=1&recIds=ETOCvdc_100117923132.0x000001

Thinking outside 'The Box': Case‐based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr

Authors: Sanchez‐Lara, Pedro A., Grand, Katheryn, Haanpää, Maria K., Curry, Cynthia J., Wang, Raymond, Ezgü, Fatih, Rose, Catherine M., D'Cunha Burkardt, Deepika, Conway, Robert L., Relan, Anju, Carey, John C.

Source: American journal of medical genetics.Part A. 185(9):2636-2645

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127586824.0x000001&indx=1&recIds=ETOCvdc_100127586824.0x000001

The spectrum of brain malformations and disruptions in twins

Authors: Park, Kaylee B., Chapman, Teresa, Aldinger, Kimberly A., Mirzaa, Ghayda M., Zeiger, Jordan, Beck, Anita, Glass, Ian A., Hevner, Robert F., Jansen, Anna C., Marshall, Desiree A., Oegema, Renske, Parrini, Elena, Saneto, Russell P., Curry, Cynthia J., Hall, Judith G., Guerrini, Renzo, Leventer, Richard J., Dobyns, William B.

Source: American journal of medical genetics.Part A. 185(9):2690-2718

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127343892.0x000001&indx=1&recIds=ETOCvdc_100127343892.0x000001

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Authors: Dyment, David A., O'Donnell‐Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping‐Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, Boer, Elke, Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, López‐Giráldez, Francesc, Matise, Tara C., McEvoy‐Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

Source: American journal of medical genetics.Part A. 185(1):119-133

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100112419830.0x000001&indx=1&recIds=ETOCvdc_100112419830.0x000001

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

Authors: Lemire, Gabrielle, Ito, Yoko A., Marshall, Aren E., Chrestian, Nicolas, Stanley, Valentina, Brady, Lauren, Tarnopolsky, Mark, Curry, Cynthia J., Hartley, Taila, Mears, Wendy, Derksen, Alexa, Rioux, Nadie, Laflamme, Nataly, Hutchison, Harrol T., Pais, Lynn S., Zaki, Maha S., Sultan, Tipu, Dane, Adrie D., Gleeson, Joseph G., Vaz, Frédéric M., Kernohan, Kristin D., Bernard, Geneviève, Boycott, Kym M.

Source: American journal of human genetics. 108(10):2017-2023

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163813695.0x000001&indx=1&recIds=ETOCvdc_100163813695.0x000001

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Authors: Lennox, Ashley L., Hoye, Mariah L., Jiang, Ruiji, Johnson-Kerner, Bethany L., Suit, Lindsey A., Venkataramanan, Srivats, Sheehan, Charles J., Alsina, Fernando C., Fregeau, Brieana, Aldinger, Kimberly A., Moey, Ching, Lobach, Iryna, Afenjar, Alexandra, Babovic-Vuksanovic, Dusica, Bézieau, Stéphane, Blackburn, Patrick R., Bunt, Jens, Burglen, Lydie, Campeau, Philippe M., Charles, Perrine, Chung, Brian H.Y., Cogné, Benjamin, Curry, Cynthia, D’Agostino, Maria Daniela, Di Donato, Nataliya, Faivre, Laurence, Héron, Delphine, Innes, A. Micheil, Isidor, Bertrand, Keren, Boris, Kimball, Amy, Klee, Eric W., Kuentz, Paul, Küry, Sébastien, Martin-Coignard, Dominique, Mirzaa, Ghayda, Mignot, Cyril, Miyake, Noriko, Matsumoto, Naomichi, Fujita, Atsushi, Nava, Caroline, Nizon, Mathilde, Rodriguez, Diana, Blok, Lot Snijders, Thauvin-Robinet, Christel, Thevenon, Julien, Vincent, Marie, Ziegler, Alban, Dobyns, William, Richards, Linda J., Barkovich, A. James, Floor, Stephen N., Silver, Debra L., Sherr, Elliott H.

Source: In Neuron 6 May 2020 106(3):404-420

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Authors: Monteiro, Fabiola P., Curry, Cynthia J., Hevner, Robert, Elliott, Stephen, Fisher, Jamie H., Turocy, John, Dobyns, William B., Costa, Larissa A., Freitas, Erika, Kitajima, João Paulo, Kok, Fernando

Source: In European Journal of Medical Genetics January 2020 63(1)

Redefining the Etiologic Landscape of Cerebellar Malformations

Authors: Aldinger, Kimberly A., Timms, Andrew E., Thomson, Zachary, Mirzaa, Ghayda M., Bennett, James T., Rosenberg, Alexander B., Roco, Charles M., Hirano, Matthew, Abidi, Fatima, Haldipur, Parthiv, Cheng, Chi V., Collins, Sarah, Park, Kaylee, Zeiger, Jordan, Overmann, Lynne M., Alkuraya, Fowzan S., Biesecker, Leslie G., Braddock, Stephen R., Cathey, Sara, Cho, Megan T., Chung, Brian H.Y., Everman, David B., Zarate, Yuri A., Jones, Julie R., Schwartz, Charles E., Goldstein, Amy, Hopkin, Robert J., Krantz, Ian D., Ladda, Roger L., Leppig, Kathleen A., McGillivray, Barbara C., Sell, Susan, Wusik, Katherine, Gleeson, Joseph G., Nickerson, Deborah A., Bamshad, Michael J., Gerrelli, Dianne, Lisgo, Steven N., Seelig, Georg, Ishak, Gisele E., Barkovich, A. James, Curry, Cynthia J., Glass, Ian A., Millen, Kathleen J., Doherty, Dan, Dobyns, William B.

Source: In The American Journal of Human Genetics 5 September 2019 105(3):606-615

Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis

Authors: Adam, Aaron P., Curry, Cynthia J., Hall, Judith G., Keppler‐Noreuil, Kim M., Adam, Margaret P., Dobyns, William B.

Source: American journal of medical genetics.Part A. 182(11):2646-2661

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108616980.0x000001&indx=1&recIds=ETOCvdc_100108616980.0x000001