Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

Authors: O'Grady, Lauren, Schrier Vergano, Samantha A., Hoffman, Trevor L., Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz‐Rogers, Laura, Chung, Wendy K., Sacharow, Stephanie, Immken, Ladonna L., Holder, Susan, Blackwell, Rebecca R., Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne‐Marie, Rodan, Lance, Vries, Bert B. A., Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares‐Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W., Babovic‐Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller‐Ramey, Jennifer, Santiago‐Sim, Teresa, Schnur, Rhonda E., Sweetser, David A., Gold, Nina B.

Source: American journal of medical genetics.Part A. 188(9):2750-2759

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100166441339.0x000001&indx=1&recIds=ETOCvdc_100166441339.0x000001

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Authors: Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E.H., Volker-Touw, Catharina M.L., Gassen, Koen L.I. van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B.A. de, Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Jr., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P., Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B., Cohen, Lilian L., Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B., Beggs, Alan H., Yu, Timothy W.

Source: In Genetics in Medicine June 2021 23(6):1028-1040

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum

Authors: Emrick, Lisa T. ^{1, 2, 3}, Rosenfeld, Jill A. ³, Lalani, Seema R. ^{2, 3, 4}, Jain, Mahim ^{3, 10}, Desai, Nilesh K. ⁵, Larson, Austin ⁶, Kripps, Kimberly ⁶, Vanderver, Adeline ⁷, Taft, Ryan J. ⁸, Bluske, Krista ⁸, Perry, Denise ⁸, Nagakura, Honey ^{9, 11}, Immken, LaDonna L. ⁹, Burrage, Lindsay C. ^{2, 3}, Bacino, Carlos A. ^{2, 3, 4}, Belmont, John W. ^{3, 12}, Lee, Brendan ^{2, 3}

Source: In Genetics in Medicine July 2019 21(7):1652-1656

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Authors: Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei ^*

Source: In Genetics in Medicine March 2019 21(3):663-675

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Authors: Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

Source: In The American Journal of Human Genetics 4 January 2018 102(1):69-87

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Authors: Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reijnders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

Source: In The American Journal of Human Genetics 2 November 2017 101(5):716-724

Identification of novel candidate disease genes from de novo exonic copy number variants

Authors: Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Nagamani, Sandesh, Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Patel, Ankita, Shaw, Chad, Stankiewicz, Paweł

Source: Genome medicine. 9(1):1-15

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141963735.0x000001&indx=1&recIds=ETOCvdc_100141963735.0x000001

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

Authors: Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef

Source: American journal of human genetics. 101(6):995-1005

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100060409975.0x000001&indx=1&recIds=ETOCvdc_100060409975.0x000001

Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

Authors: Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.V., Patel, Gayle S., Immken, LaDonna, Aleck, Kyrieckos, Lim, Cynthia, Cheung, Sau Wai, Rosenberg, Carla, Katsanis, Nicholas, Lupski, James R.

Source: In The American Journal of Human Genetics 6 November 2014 95(5):565-578

P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*

Authors: Boone, Philip, Faour, Kamli, Mohajeri, Kiana, Lemanski, John, Jana, Bimal, Fu, Jack, Kerkhof, Jennifer, McConkey, Haley, Collins, Ryan, Lucente, Diane, de Esch, Celine, Moysés-Oliveira, Mariana, Nuttle, Alexander, Domingo, Aloysius, Erdin, Serkan, Hanley, Maris, Watt, Amy, Surette, Eric, Lima, Gloria, Smith, Laura, Salani, Monica, Yadav, Rachita, Harripaul, Ricardo, O’Keefe, Kathryn, Burt, Nicholas, Larson, Matthew, Bhavsar, Riya, Currall, Benjamin, Sell, Susan, Ladda, Roger, Immken, LaDonna, Buchanan, Catherine, Yuan, Bo, Lynch, Sally, Gilissen, Christian, Pfundt, Rolph, Ockeloen, Charlotte, Kleefstra, Tjitske, Vanhoutte, Els, Sinnema, Margje, Stegmann, Sander, Stevens, Servi, Iascone, Maria, Maitz, Silvia, Cogne, Benjamin, Le Caignec, Cedric, Vincent, Marie, Nizon, Mathilde, Male, Alison, Agrawal, Pankaj, Thompson, Michelle, Torring, Pernille, Brasch-Andersen, Charlotte, Faivre, Laurence, Bruel, Ange-Line, Isidor, Bertrand, Philippe, Christophe, Morleo, Manuela, Wojcik, Monica, Genetti, Casie, Srivastava, Siddharth, Ballal, Sonia, Schließke, Sophia, Jamra, Rami Abou, Delahaye, Andree, von Wintzingerode, Lydia, Bothe, Viktoria, Houlier, Marine, Stout, Timothy, Bergant, Gaber, Peterlin, Borut, Moldovan, Oana, Martínez-Gil, Núria, Argilli, Emanuela, Sherr, Elliott, Harel, Tamar, Rosenberg-Fogler, Hallel, Rosenfeld, Jill, Wentzensen, Ingrid, Westphal, Dominik, Riedhammer, Korbinian, Orec, Laura, Gusella, James, Sadikovic, Bekim, Tai, Derek, Talkowski, Michael

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

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

Authors: Wiszniewski, Wojciech, Hunter, Jill V., Hanchard, Neil A., Willer, Jason R., Shaw, Chad, Tian, Qi, Illner, Anna, Wang, Xueqing, Cheung, Sau W., Patel, Ankita, Campbell, Ian M., Gelowani, Violet, Hixson, Patricia, Ester, Audrey R., Azamian, Mahshid S., Potocki, Lorraine, Zapata, Gladys, Hernandez, Patricia P., Ramocki, Melissa B., Santos-Cortez, Regie L.P., Wang, Gao, York, Michele K., Justice, Monica J., Chu, Zili D., Bader, Patricia I., Omo-Griffith, Lisa, Madduri, Nirupama S., Scharer, Gunter, Crawford, Heather P., Yanatatsaneejit, Pattamawadee, Eifert, Anna, Kerr, Jeffery, Bacino, Carlos A., Franklin, Adiaha I.A., Goin-Kochel, Robin P., Simpson, Gayle, Immken, Ladonna, Haque, Muhammad E., Stosic, Marija, Williams, Misti D., Morgan, Thomas M., Pruthi, Sumit, Omary, Reed, Boyadjiev, Simeon A., Win, Kay K., Thida, Aye, Hurles, Matthew, Hibberd, Martin Lloyd, Khor, Chiea Chuen, Van Vinh Chau, Nguyen, Gallagher, Thomas E., Mutirangura, Apiwat, Stankiewicz, Pawel, Beaudet, Arthur L., Maletic-Savatic, Mirjana, Rosenfeld, Jill A., Shaffer, Lisa G., Davis, Erica E., Belmont, John W., Dunstan, Sarah, Simmons, Cameron P., Bonnen, Penelope E., Leal, Suzanne M., Katsanis, Nicholas, Lupski, James R., Lalani, Seema R.

Source: In The American Journal of Human Genetics 8 August 2013 93(2):197-210

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

Authors: Liu, Pengfei, Erez, Ayelet, Nagamani, Sandesh C. Sreenath, Dhar, Shweta U., Kołodziejska, Katarzyna E., Dharmadhikari, Avinash V., Cooper, M. Lance, Wiszniewska, Joanna, Zhang, Feng, Withers, Marjorie A., Bacino, Carlos A., Campos-Acevedo, Luis Daniel, Delgado, Mauricio R., Freedenberg, Debra, Garnica, Adolfo, Grebe, Theresa A., Hernández-Almaguer, Dolores, Immken, LaDonna, Lalani, Seema R., McLean, Scott D., Northrup, Hope, Scaglia, Fernando, Strathearn, Lane, Trapane, Pamela, Kang, Sung-Hae L., Patel, Ankita, Cheung, Sau Wai, Hastings, P.J., Stankiewicz, Paweł, Lupski, James R., Bi, Weimin

Source: In Cell 2011 146(6):889-903

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

Authors: Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand

Source: In The American Journal of Human Genetics 6 May 2021 108(5):929-941

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Authors: Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel

Source: Molecular Cytogenetics, Vol 5, Iss 1, p 17 (2012)

Subject Terms: 6p deletions, Copy-number variants, Array comparative genomic hybridization, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.molecularcytogenetics.org/content/5/1/17; https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/6b33cf3605f24009b5cbbc295234f8e2

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Authors: Afawi, Zaid, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Craiu, Dana, De Jonghe, Peter, Guerrero-Lopez, Rosa, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, José, Sterbová, Katalin, Suls, Arvid, Moller, Rikke S., Striano, Pasquale, Weber, Yvonne, Zara, Federico, Santiago-Sim, Teresa, Burrage, Lindsay C., Ebstein, Frédéric, Tokita, Mari J., Miller, Marcus, Bi, Weimin, Braxton, Alicia A., Rosenfeld, Jill A., Shahrour, Maher, Lehmann, Andrea, Cogné, Benjamin, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Bézieau, Stéphane, Hazart, Isabelle, Nagakura, Honey, Immken, LaDonna L., Littlejohn, Rebecca O., Roeder, Elizabeth, Kara, Bulent, Hardies, Katia, Weckhuysen, Sarah, May, Patrick, Lemke, Johannes R., Elpeleg, Orly, Abu-Libdeh, Bassam, James, Kiely N., Silhavy, Jennifer L., Issa, Mahmoud Y., Zaki, Maha S., Gleeson, Joseph G., Seavitt, John R., Dickinson, Mary E., Ljungberg, M. Cecilia, Wells, Sara, Johnson, Sara J., Teboul, Lydia, Eng, Christine M., Yang, Yaping, Kloetzel, Peter-Michael, Heaney, Jason D., Walkiewicz, Magdalena A.

Source: In The American Journal of Human Genetics 6 April 2017 100(4):676-688

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Authors: Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reijnders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

Source: American journal of human genetics. 102(1):196-196

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100116083604.0x000001&indx=1&recIds=ETOCvdc_100116083604.0x000001

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Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

Authors: Sajan, Samin A., Powis, Zöe, Helbig, Katherine L., Nagakura, Honey, Immken, Ladonna, Tang, Sha, Alcaraz, Wendy A.

Source: Clinical Case Reports; Jul2018, Vol. 6 Issue 7, p1208-1213, 6p

Subject Terms: EXOMES, DUAL diagnosis, CHROMOSOME abnormalities, CHROMOSOME analysis, NUCLEOTIDE sequencing

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