Complex trait associations in rare diseases and impacts on Mendelian variant interpretation von Smail, Craig, Ge, Bing, Keever-Keigher, Marissa R., Schwendinger-Schreck, Carl, Cheung, Warren A., Johnston, Jeffrey J., Barrett, Cassandra, Feldman, Keith, Cohen, Ana S. A., Farrow, Emily G., Thiffault, Isabelle, Grundberg, Elin, Pastinen, Tomi

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Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort von Cheung, Warren A., Johnson, Adam F., Rowell, William J., Farrow, Emily, Hall, Richard, Cohen, Ana S. A., Means, John C., Zion, Tricia N., Portik, Daniel M., Saunders, Christopher T., Koseva, Boryana, Bi, Chengpeng, Truong, Tina K., Schwendinger-Schreck, Carl, Yoo, Byunggil, Johnston, Jeffrey J., Gibson, Margaret, Evrony, Gilad, Rizzo, William B., Thiffault, Isabelle, Younger, Scott T., Curran, Tom, Wenger, Aaron M., Grundberg, Elin, Pastinen, Tomi

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Loss of maternal EED results in postnatal overgrowth von Prokopuk, Lexie, Stringer, Jessica M, White, Craig R, Vossen, Rolf H A M, White, Stefan J, Cohen, Ana S A, Gibson, William T, Western, Patrick S

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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro von Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos-Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu, Jieqing, Van Allen, M.I., Ross, Colin J.D., Dobyns, William B., Weaver, David D., Gibson, William T.

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EED-associated overgrowth in a second male patient von Cohen, Ana Sa, Gibson, William T

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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay von Singh, Ram, Cohen, Ana S A, Poulton, Cathryn, Hjortshøj, Tina Duelund, Akahira-Azuma, Moe, Mendiratta, Geetu, Khan, Wahab A, Azmanov, Dimitar N, Woodward, Karen J, Kirchhoff, Maria, Shi, Lisong, Edelmann, Lisa, Baynam, Gareth, Scott, Stuart A, Jabs, Ethylin Wang

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Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations von Cohen, Ana S.A., Berrios, Courtney D., Zion, Tricia N., Barrett, Cassandra M., Moore, Riley, Boillat, Emelia, Belden, Bradley, Farrow, Emily G., Thiffault, Isabelle, Zuccarelli, Britton D., Pastinen, Tomi

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Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment von Kane, Natalie J., Cohen, Ana S.A., Berrios, Courtney, Jones, Bridgette, Pastinen, Tomi, Hoffman, Mark A.

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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes von Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna

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Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy von do Rosario, Michelle C, Bey, Guillermo Rodriguez, Nmezi, Bruce, Liu, Fang, Oranburg, Talia, Cohen, Ana S A, Coffman, Keith A, Brown, Maya R, Kiselyov, Kirill, Waisfisz, Quinten, Flohil, Myrthe T, Siddiqui, Shahyan, Rosenfeld, Jill A, Iglesias, Alejandro, Girisha, Katta Mohan, Wolf, Nicole I, Padiath, Quasar Saleem, Shukla, Anju

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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change von Rehm, Heidi L., Alaimo, Joseph T., Aradhya, Swaroop, Bayrak-Toydemir, Pinar, Best, Hunter, Brandon, Rhonda, Buchan, Jillian G., Chao, Elizabeth C., Chen, Elaine, Clifford, Jacob, Cohen, Ana S.A., Conlin, Laura K., Das, Soma, Davis, Kyle W., del Gaudio, Daniela, Del Viso, Florencia, DiVincenzo, Christina, Eisenberg, Marcia, Guidugli, Lucia, Hammer, Monia B., Harrison, Steven M., Hatchell, Kathryn E., Dyer, Lindsay Havens, Hoang, Lily U., Holt, James M., Jobanputra, Vaidehi, Karbassi, Izabela D., Kearney, Hutton M., Kelly, Melissa A., Kelly, Jacob M., Kluge, Michelle L., Komala, Timothy, Kruszka, Paul, Lau, Lynette, Lebo, Matthew S., Marshall, Christian R., McKnight, Dianalee, McWalter, Kirsty, Meng, Yan, Nagan, Narasimhan, Neckelmann, Christian S., Neerman, Nir, Niu, Zhiyv, Paolillo, Vitoria K., Paolucci, Sarah A., Perry, Denise, Pesaran, Tina, Radtke, Kelly, Rasmussen, Kristen J., Retterer, Kyle, Saunders, Carol J., Spiteri, Elizabeth, Stanley, Christine, Szuto, Anna, Taft, Ryan J., Thiffault, Isabelle, Thomas, Brittany C., Thomas-Wilson, Amanda, Thorpe, Erin, Tidwell, Timothy J., Towne, Meghan C., Zouk, Hana, Marshall, Christian, Meng, Linyan, Jobanputra, Vaidehi, Taft, Ryan, Ashley, Euan, Nakouzi, Ghunwa, Shen, Wei, Kingsmore, Stephen, Rehm, Heidi

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A novel mutation in EED associated with overgrowth von Cohen, Ana S A, Tuysuz, Beyhan, Shen, Yaoqing, Bhalla, Sanjiv K, Jones, Steven J M, Gibson, William T

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Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis von Cohen, Ana S. A., Townsend, Katelin N., Xiang, Qing-San, Attariwala, Raj, Borchers, Christof, Senger, Christof, Picker, Wayne, Levi, Jasna, Yewchuk, Lila, Tan, Joelle, Eydoux, Patrice, Lum, Amy, Yong, Siu-Li, McKinnon, Margaret L., Lear, Scott A., Everett, Robert, Jones, Steven J. M., Yip, Stephen, Gibson, William T.

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 von Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Rosenfeld, Jill A., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Lewis, Richard A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., Carvill, Gemma L., Mefford, Heather, Bacino, Carlos A., Lee, Brendan H., Chao (趙孝端), Hsiao-Tuan

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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder von Schmid, Cosima M., Gregor, Anne, Costain, Gregory, Morel, Chantal F., Massingham, Lauren, Schwab, Jennifer, Quélin, Chloé, Faoucher, Marie, Kaplan, Julie, Procopio, Rebecca, Saunders, Carol J., Cohen, Ana S.A., Lemire, Gabrielle, Sacharow, Stephanie, O’Donnell-Luria, Anne, Segal, Ranit Jaron, Kianmahd Shamshoni, Jessica, Schweitzer, Daniela, Ebrahimi-Fakhari, Darius, Monaghan, Kristin, Palculict, Timothy Blake, Napier, Melanie P., Tao, Alice, Isidor, Bertrand, Moradkhani, Kamran, Reis, André, Sticht, Heinrich, Chung, Wendy K., Zweier, Christiane

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 von Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Rosenfeld, Jill A., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Lewis, Richard A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., Carvill, Gemma L., Mefford, Heather, Bacino, Carlos A., Lee, Brendan H., Chao, Hsiao-Tuan

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Haploinsufficiency of the basic helix–loop–helix transcription factor HAND2 causes congenital heart defects von Cohen, Ana S. A., Simotas, Christopher, Webb, Bryn D., Shi, Huanzhi, Khan, Wahab A., Edelmann, Lisa, Scott, Stuart A., Singh, Ram

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Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series von Cadieux‐Dion, Maxime, Farrow, Emily, Thiffault, Isabelle, Cohen, Ana S. A., Welsh, Holly, Bartik, Lauren, Schwager, Caitlin, Engleman, Kendra, Zhou, Dihong, Zhang, Lei, Repnikova, Elena, Amudhavalli, Shivarajan M., Saunders, Carol J.

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Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing von Lansdon, Lisa A., Cadieux-Dion, Maxime, Yoo, Byunggil, Miller, Neil, Cohen, Ana S.A., Zellmer, Lee, Zhang, Lei, Farrow, Emily G., Thiffault, Isabelle, Repnikova, Elena A., Cooley, Linda D., Alaimo, Joseph T., Porath, Binu, Herriges, John C., Saunders, Carol J., Farooqi, Midhat S.

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Insurance denials and diagnostic rates in a pediatric genomic research cohort von Zion, Tricia N., Berrios, Courtney D., Cohen, Ana S.A., Bartik, Lauren, Cross, Laura A., Engleman, Kendra L., Fleming, Emily A., Gadea, Randi N., Hughes, Susan S., Jenkins, Janda L., Kussmann, Jennifer, Lawson, Caitlin, Schwager, Caitlin, Strenk, Meghan E., Welsh, Holly, Rush, Eric T., Amudhavalli, Shivarajan M., Sullivan, Bonnie R., Zhou, Dihong, Gannon, Jennifer L., Heese, Bryce A., Moore, Riley, Boillat, Emelia, Biswell, Rebecca L., Louiselle, Daniel A., Puckett, Laura M.B., Beyer, Shanna, Neal, Shelby H., Sierant, Victoria, McBeth, Macy, Belden, Bradley, Walter, Adam M., Gibson, Margaret, Cheung, Warren A., Johnston, Jeffrey J., Thiffault, Isabelle, Farrow, Emily G., Grundberg, Elin, Pastinen, Tomi

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