Search Results - "Cohen, Ana S A"

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation by 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

“…Emerging evidence implicates common genetic variation - aggregated into polygenic scores (PGS) - in the onset and phenotypic presentation of rare diseases…”
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Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort by 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

“…Long-read HiFi genome sequencing allows for accurate detection and direct phasing of single nucleotide variants, indels, and structural variants. Recent…”
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Loss of maternal EED results in postnatal overgrowth by 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

“…Investigating how epigenetic information is transmitted through the mammalian germline is the key to understanding how this information impacts on health and…”
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EED-associated overgrowth in a second male patient by Cohen, Ana Sa, Gibson, William T

“…Following our discovery that constitutional mutations in EED can cause overgrowth, we screened our cohort of patients with Weaver-like features for mutations…”
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Rare SUZ12 variants commonly cause an overgrowth phenotype by Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E., An, Jianghong, Jones, Steven J. M., Bhalla, Sanjiv K., Pinz, Hailey, Braddock, Stephen R., Gibson, William T.

“…The Polycomb repressive complex 2 is an epigenetic writer and recruiter with a role in transcriptional silencing. Constitutional pathogenic variants in its…”
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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro by 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.

“…ABSTRACT Weaver syndrome (WS) is a rare congenital disorder characterized by generalized overgrowth, macrocephaly, specific facial features, accelerated bone…”
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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay by 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

“…The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation,…”
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Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture by Harel, Shira, Cohen, Ana S A, Hussain, Khalid, Flanagan, Sarah E, Schlade-Bartusiak, Kamilla, Patel, Millan, Courtade, Jaques, Li, Jenny B W, Van Karnebeek, Clara, Kurata, Harley, Ellard, Sian, Chanoine, Jean-Pierre, Gibson, William T

“…Inheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same…”
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Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis by 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.

“…We describe a patient who presented with a localized growth of mature fat tissue, which was surgically removed. MRI imaging identified diffuse increase in…”
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Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations by 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

“…Next-generation sequencing has revolutionized the speed of rare disease (RD) diagnoses. While clinical exome and genome sequencing represent an effective tool…”
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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes by 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

“…Weaver syndrome (WS), an overgrowth/intellectual disability syndrome (OGID), is caused by pathogenic variants in the histone methyltransferase EZH2, which…”
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Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment by Kane, Natalie J., Cohen, Ana S.A., Berrios, Courtney, Jones, Bridgette, Pastinen, Tomi, Hoffman, Mark A.

“…Persistent inequities in genomic medicine and research contribute to health disparities. This analysis uses a context-specific and equity-focused strategy to…”
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Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy by 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

“…Hypomyelinating leukodystrophies comprise a subclass of genetic disorders with deficient myelination of the CNS white matter. Here we report four unrelated…”
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change by 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

“…Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and…”
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Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies by Lansdon, Lisa A, Cadieux-Dion, Maxime, Herriges, John C, Johnston, Jeffrey, Yoo, Byunggil, Alaimo, Joseph T, Thiffault, Isabelle, Miller, Neil, Cohen, Ana S A, Repnikova, Elena A, Zhang, Lei, Farooqi, Midhat S, Farrow, Emily G, Saunders, Carol J

“…Abstract Background Laboratories utilizing next-generation sequencing align sequence data to a standardized human reference genome (HRG). Several updated…”
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 by 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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A novel mutation in EED associated with overgrowth by Cohen, Ana S A, Tuysuz, Beyhan, Shen, Yaoqing, Bhalla, Sanjiv K, Jones, Steven J M, Gibson, William T

“…In a patient suspected clinically to have Weaver syndrome, we ruled out mutations in EZH2 and NSD1, then identified a previously undescribed de novo mutation…”
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Haploinsufficiency of the basic helix–loop–helix transcription factor HAND2 causes congenital heart defects by Cohen, Ana S. A., Simotas, Christopher, Webb, Bryn D., Shi, Huanzhi, Khan, Wahab A., Edelmann, Lisa, Scott, Stuart A., Singh, Ram

“…Congenital heart defects (CHDs) are caused by a disruption in heart morphogenesis, which is dependent, in part, on a network of transcription factors (TFs)…”
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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder by 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

“…LHX2 encodes the LIM homeobox 2 transcription factor (LHX2), which is highly expressed in brain and well conserved across species, but it has not been clearly…”
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Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series by 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.

“…Loss of function variants in JARID2 were recently reported in 16 patients with a neurodevelopmental disorder characterized by delays, intellectual and learning…”
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