Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Wangler, Michael F, Gonzaga-Jauregui, Claudia, Gambin, Tomasz, Penney, Samantha, Moss, Timothy, Chopra, Atul, Probst, Frank J, Xia, Fan, Yang, Yaping, Werlin, Steven, Eglite, Ieva, Kornejeva, Liene, Bacino, Carlos A, Baldridge, Dustin, Neul, Jeff, Lehman, Efrat Lev, Larson, Austin, Beuten, Joke, Muzny, Donna M, Jhangiani, Shalini, Gibbs, Richard A, Lupski, James R, Beaudet, Arthur
Published in PLoS genetics (01.03.2014)
Published in PLoS genetics (01.03.2014)
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Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes
Mullegama, Sureni V., Klein, Steven D., Williams, Stephen R., Innis, Jeffrey W., Probst, Frank J., Haldeman-Englert, Chad, Martinez-Agosto, Julian A., Yang, Ying, Tian, Yuchen, Elsea, Sarah H., Ezashi, Toshihiko
Published in Scientific reports (28.05.2021)
Published in Scientific reports (28.05.2021)
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A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus)
Probst, Frank J, Corrigan, Rebecca R, Del Gaudio, Daniela, Salinger, Andrew P, Lorenzo, Isabel, Gao, Simon S, Chiu, Ilene, Xia, Anping, Oghalai, John S, Justice, Monica J
Published in PloS one (26.11.2013)
Published in PloS one (26.11.2013)
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Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis
Peddibhotla, Sirisha, Khalifa, Mohamed, Probst, Frank J., Stein, Jennifer, Harris, Leslie L., Kearney, Debra L., Vance, Gail H., Bull, Marilyn J., Grange, Dorothy K., Scharer, Gunter H., Kang, Sue-Hae L., Stankiewicz, Pawel, Bacino, Carlos A., Cheung, Sau W., Patel, Ankita
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin
Boles, Melissa K, Wilkinson, Bonney M, Wilming, Laurens G, Liu, Bin, Probst, Frank J, Harrow, Jennifer, Grafham, Darren, Hentges, Kathryn E, Woodward, Lanette P, Maxwell, Andrea, Mitchell, Karen, Risley, Michael D, Johnson, Randy, Hirschi, Karen, Lupski, James R, Funato, Yosuke, Miki, Hiroaki, Marin-Garcia, Pablo, Matthews, Lucy, Coffey, Alison J, Parker, Anne, Hubbard, Tim J, Rogers, Jane, Bradley, Allan, Adams, David J, Justice, Monica J
Published in PLoS genetics (01.12.2009)
Published in PLoS genetics (01.12.2009)
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R
Published in Journal of medical genetics (01.05.2010)
Published in Journal of medical genetics (01.05.2010)
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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
Wiszniewska, Joanna, Bi, Weimin, Shaw, Chad, Stankiewicz, Pawel, Kang, Sung-Hae L, Pursley, Amber N, Lalani, Seema, Hixson, Patricia, Gambin, Tomasz, Tsai, Chun-hui, Bock, Hans-Georg, Descartes, Maria, Probst, Frank J, Scaglia, Fernando, Beaudet, Arthur L, Lupski, James R, Eng, Christine, Cheung, Sau Wai, Bacino, Carlos, Patel, Ankita
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Zhang, Li Xin, Lemire, Gabrielle, Gonzaga-Jauregui, Claudia, Molidperee, Sirinart, Galaz-Montoya, Carolina, Liu, David S., Verloes, Alain, Shillington, Amelle G., Izumi, Kosuke, Ritter, Alyssa L., Keena, Beth, Zackai, Elaine, Li, Dong, Bhoj, Elizabeth, Tarpinian, Jennifer M., Bedoukian, Emma, Kukolich, Mary K., Innes, A. Micheil, Ediae, Grace U., Sawyer, Sarah L., Nair, Karippoth Mohandas, Soumya, Para Chottil, Subbaraman, Kinattinkara R., Probst, Frank J., Bassetti, Jennifer A., Sutton, Reid V., Gibbs, Richard A., Brown, Chester, Boone, Philip M., Holm, Ingrid A., Tartaglia, Marco, Ferrero, Giovanni Battista, Niceta, Marcello, Dentici, Maria Lisa, Radio, Francesca Clementina, Keren, Boris, Wells, Constance F., Coubes, Christine, Laquerrière, Annie, Aziza, Jacqueline, Dubucs, Charlotte, Nampoothiri, Sheela, Mowat, David, Patel, Millan S., Bracho, Ana, Cammarata-Scalisi, Francisco, Gezdirici, Alper, Fernandez-Jaen, Alberto, Hauser, Natalie, Zarate, Yuri A., Bosanko, Katherine A., Dieterich, Klaus, Carey, John C., Chong, Jessica X., Nickerson, Deborah A., Bamshad, Michael J., Lee, Brendan H., Yang, Xiang-Jiao, Lupski, James R., Campeau, Philippe M.
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina
Published in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological
Szafranski, Przemyslaw, Schaaf, Christian P, Person, Richard E, Gibson, Ian B, Xia, Zhilian, Mahadevan, Sangeetha, Wiszniewska, Joanna, Bacino, Carlos A, Lalani, Seema, Potocki, Lorraine, Kang, Sung-Hae, Patel, Ankita, Cheung, Sau Wai, Probst, Frank J, Graham, Brett H, Shinawi, Marwan, Beaudet, Arthur L, Stankiewicz, Pawel
Published in Human mutation (01.07.2010)
Published in Human mutation (01.07.2010)
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Transgene correction maintains normal cochlear structure and function in 6-month-old Myo15a mutant mice
Kanzaki, Sho, Beyer, Lisa, Karolyi, I. Jill, Dolan, David F., Fang, Qing, Probst, Frank J., Camper, Sally A., Raphael, Yehoash
Published in Hearing research (01.04.2006)
Published in Hearing research (01.04.2006)
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Mutation discovery in mice by whole exome sequencing
Fairfield, Heather, Gilbert, Griffith J, Barter, Mary, Corrigan, Rebecca R, Curtain, Michelle, Ding, Yueming, D'Ascenzo, Mark, Gerhardt, Daniel J, He, Chao, Huang, Wenhui, Richmond, Todd, Rowe, Lucy, Probst, Frank J, Bergstrom, David E, Murray, Stephen A, Bult, Carol, Richardson, Joel, Kile, Benjamin T, Gut, Ivo, Hager, Jorg, Sigurdsson, Snaevar, Mauceli, Evan, Di Palma, Federica, Lindblad-Toh, Kerstin, Cunningham, Michael L, Cox, Timothy C, Justice, Monica J, Spector, Mona S, Lowe, Scott W, Albert, Thomas, Donahue, Leah Rae, Jeddeloh, Jeffrey, Shendure, Jay, Reinholdt, Laura G
Published in Genome Biology (14.09.2011)
Published in Genome Biology (14.09.2011)
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Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function
NAGAMANI, Sandesh C. S, EREZ, Ayelet, NELSON, David, PATEL, Ankita, SAU WAI CHEUNG, PROBST, Frank J, BADER, Patricia, EVANS, Patricia, BAKER, Linda A, PING FANG, BERTIN, Terry, HIXSON, Patricia, STANKIEWICZ, Pawel
Published in Neurogenetics (01.11.2012)
Published in Neurogenetics (01.11.2012)
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Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator
Han, Harry J, Allen, Carolyn C, Buchovecky, Christie M, Yetman, Michael J, Born, Heather A, Marin, Miguel A, Rodgers, Shaefali P, Song, Bryan J, Lu, Hui-Chen, Justice, Monica J, Probst, Frank J, Jankowsky, Joanna L
Published in The Journal of neuroscience (01.08.2012)
Published in The Journal of neuroscience (01.08.2012)
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Journal Article
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
Dharmadhikari, Avinash V, Gambin, Tomasz, Szafranski, Przemyslaw, Cao, Wenjian, Probst, Frank J, Jin, Weihong, Fang, Ping, Gogolewski, Krzysztof, Gambin, Anna, George-Abraham, Jaya K, Golla, Sailaja, Boidein, Francoise, Duban-Bedu, Benedicte, Delobel, Bruno, Andrieux, Joris, Becker, Kerstin, Holinski-Feder, Elke, Cheung, Sau Wai, Stankiewicz, Pawel
Published in BMC genetics (04.12.2014)
Published in BMC genetics (04.12.2014)
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Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events
Bi, Weimin, Probst, Frank J, Wiszniewska, Joanna, Plunkett, Katie, Roney, Erin K, Carter, Brian S, Williams, Misti D, Stankiewicz, Pawel, Patel, Ankita, Stevens, Cathy A, Lupski, James R, Cheung, Sau Wai
Published in Journal of medical genetics (01.11.2012)
Published in Journal of medical genetics (01.11.2012)
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Journal Article
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function
Nagamani, Sandesh C. S., Erez, Ayelet, Probst, Frank J., Bader, Patricia, Evans, Patricia, Baker, Linda A., Fang, Ping, Bertin, Terry, Hixson, Patricia, Stankiewicz, Pawel, Nelson, David, Patel, Ankita, Cheung, Sau Wai
Published in Neurogenetics (01.11.2012)
Published in Neurogenetics (01.11.2012)
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Journal Article
Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3
Wang, Aihui, Liang, Yong, Fridell, Robert A., Probst, Frank J., Wilcox, Edward R., Touchman, Jeffrey W., Morton, Cynthia C., Morell, Robert J., Noben-Trauth, Konrad, Camper, Sally A., Friedman, Thomas B.
Published in Science (American Association for the Advancement of Science) (29.05.1998)
Published in Science (American Association for the Advancement of Science) (29.05.1998)
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