Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Authors: Sabeh, Pascale ^{1, 44}, Dumas, Samantha A. ^{2, 44}, Maios, Claudia ³, Daghar, Hiba ³, Korzeniowski, Marek ², Rousseau, Justine ¹, Lines, Matthew ⁴, Guerin, Andrea ⁵, Millichap, John J. ⁶, Landsverk, Megan ⁷, Grebe, Theresa ⁸, Lindstrom, Kristin ⁹, Strober, Jonathan ¹⁰, Ait Mouhoub, Tarik ¹¹, Zweier, Christiane ¹², Steinraths, Michelle ¹³, Hebebrand, Moritz ¹⁴, Callewaert, Bert ¹⁵, Abou Jamra, Rami ¹⁶, Kautza-Lucht, Monika ¹⁷, Wegler, Meret ¹⁶, Kruszka, Paul ¹⁸, Kumps, Candy ¹⁵, Banne, Ehud ¹⁹, Waberski, Marta Biderman ²⁰, Dieux, Anne ²¹, Raible, Sarah ²², Krantz, Ian ²², Medne, Livija ²³, Pechter, Kieran ²³, Villard, Laurent ^{24, 41}, Guerrini, Renzo ^{25, 41}, Bianchini, Claudia ^{25, 41}, Barba, Carmen ^{25, 41}, Mei, Davide ²⁵, Blanc, Xavier ²⁶, Kallay, Christine ²⁷, Ranza, Emmanuelle ²⁶, Yang, Xiao-Ru ²⁸, O'Heir, Emily ²⁹, Donald, Kirsten A. ³⁰, Murugasen, Serini ³⁰, Bruwer, Zandre ³⁰, Calikoglu, Muge ³¹, Mathews, Jennifer M. ³¹, Lesieur-Sebellin, Marion ³², Baujat, Geneviève ³¹, Derive, Nicolas ³³, Pierson, Tyler Mark ^{42, 43}, Murrell, Jill R. ³⁴, Shillington, Amelle ³⁵, Ormieres, Clothilde ³², Rondeau, Sophie ³², Reis, André ¹⁴, Fernandez-Jaen, Alberto ³⁶, Au, Ping Yee Billie ²⁸, Sweetser, David A. ³⁷, Briere, Lauren C. ³⁷, Couque, Nathalie ³⁸, Perrin, Laurence ³⁸, Schymick, Jennifer ³⁹, Gueguen, Paul ³³, Lefebvre, Mathilde ⁴⁰, Van Andel, Michael ³⁹, Juusola, Jane ¹⁸, Antonarakis, Stylianos E. ²⁶, Parker, J. Alex ^{3, 45}, Burnett, Barrington G. ^{2, 45, ∗}, Campeau, Philippe M. ^{1, 45, ∗∗}

Source: In The American Journal of Human Genetics 2 January 2025 112(1):75-86

Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Authors: Grebe, Theresa A., Khushf, George, Greally, John M., Turley, Patrick, Foyouzi, Nastaran, Rabin-Havt, Sara, Berkman, Benjamin E., Pope, Kathleen, Vatta, Matteo, Kaur, Shagun

Source: In Genetics in Medicine April 2024 26(4)

15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature

Authors: Sivakumaran, Theru A., Grebe, Theresa A.

Source: American journal of medical genetics.Part A. 191(9):2392-2397

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190376874.0x000001&indx=1&recIds=ETOCvdc_100190376874.0x000001

Expanded phenotype of AARS1-related white matter disease

Authors: Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E.C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, Husain, Ralf A.

Source: In Genetics in Medicine December 2021 23(12):2352-2359

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Authors: Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A., Haaxma, Charlotte A., Veenstra-Knol, Hermine E., Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R., Jones, Melissa, Walsh, Laurence E., Klee, Victoria H., Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E.S., Kurian, Manju A., Mohammad, Shekeeb S., Dale, Russell C., Terhal, Paulien A., van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogné, Benjamin, Isidor, Bertrand, Grebe, Theresa A., Kulch, Peggy, Hainline, Bryan E., Sapp, Katherine, Morava, Eva, Klee, Eric W., Macke, Erica L., Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J., Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Tan, Queenie K.-G.

Source: In The American Journal of Human Genetics 2 September 2021 108(9):1669-1691

Prenatal diagnosis of bilateral retinoblastomas by multimodality fetal imaging: case report and review of the literature

Authors: Goncalves, Luis F., Ramasubramanian, Aparna, Grebe, Theresa, Riemann, Monique, Moncrief, Dawn, Cornejo, Patricia

Source: Clinical imaging. 78:121-126

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134437812.0x000001&indx=1&recIds=ETOCvdc_100134437812.0x000001

A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation

Authors: Peter, Beate, Scherer, Nancy, Liang, Winnie S., Pophal, Stephen, Nielsen, Colby, Grebe, Theresa A.

Source: American journal of medical genetics.Part A. 185(5):1532-1537

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124073215.0x000001&indx=1&recIds=ETOCvdc_100124073215.0x000001

The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Authors: Grebe, Theresa A., Khushf, George, Chen, Margaret, Bailey, Dawn, Brenman, Leslie Manace, Williams, Marc S., Seaver, Laurie H.

Source: In Genetics in Medicine September 2020 22(9):1431-1436

Stewardship of Patient Genomic Data: A Policy Statement of the American College of Medical Genetics and Genomics (ACMG)

Authors: Best, Robert G., Khushf, George, Rabin-Havt, Sara Schonfeld, Clayton, Ellen Wright, Grebe, Theresa A., Hagenkord, Jill, Topper, Scott, Fivecoat, Jaime, Chen, Margaret, Grody, Wayne W.

Source: Obstetrical & gynecological survey. 77(9):517-519

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171055670.0x000001&indx=1&recIds=ETOCvdc_100171055670.0x000001

Novel Case of Prader–Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management

Authors: Mattia, Donald, Lindblade, Christopher, Oatman, Oliver, Prakash, Supraja, Grebe, Theresa

Source: Journal of Pediatric Genetics; December 2024, Vol. 13 Issue: 4 p315-319, 5p

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy

Authors: Hawley, Megan H., Almontashiri, Naif, Biesecker, Leslie G., Berger, Natalie, Chung, Wendy K., Garcia, John, Grebe, Theresa A., Kelly, Melissa A., Lebo, Matthew S., Macaya, Daniela, Mei, Hui, Platt, Julia, Richard, Gabi, Ryan, Ashley, Thomson, Kate L., Vatta, Matteo, Walsh, Roddy, Ware, James S., Wheeler, Matthew, Zouk, Hana, Mason‐Suares, Heather, Funke, Birgit

Source: Human mutation. 41(9):1577-1587

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108079105.0x000001&indx=1&recIds=ETOCvdc_100108079105.0x000001

Two Cases of 22Q11.2 Deletion Syndrome and Type 1 Diabetes

Authors: Chambers, Melissa A. ^*, Grebe, Theresa A., Newbern, Dorothee K.D.

Source: In AACE Clinical Case Reports May-June 2018 4(3):209-212

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Authors: Mitter, Diana, Pringsheim, Milka, Kaulisch, Marc, Plümacher, Kim Sarah, Schröder, Simone, Warthemann, Rita, Abou Jamra, Rami, Baethmann, Martina, Bast, Thomas, Büttel, Hans-Martin, Cohen, Julie S., Conover, Elizabeth, Courage, Carolina, Eger, Angelika, Fatemi, Ali, Grebe, Theresa A., Hauser, Natalie S., Heinritz, Wolfram, Helbig, Katherine L., Heruth, Marion, Huhle, Dagmar, Höft, Karen, Karch, Stephanie, Kluger, Gerhard, Korenke, G. Christoph, Lemke, Johannes R., Lutz, Richard E., Patzer, Steffi, Prehl, Isabelle, Hoertnagel, Konstanze, Ramsey, Keri, Rating, Tina, Rieß, Angelika, Rohena, Luis, Schimmel, Mareike, Westman, Rachel, Zech, Frank-Martin, Zoll, Barbara, Malzahn, Dörthe, Zirn, Birgit, Brockmann, Knut

Source: In Genetics in Medicine January 2018 20(1):98-108

Response to Widen et al

Authors: Grebe, Theresa A., Khushf, George, Greally, John M., Turley, Patrick, Foyouzi, Nastaran, Rabin-Havt, Sara, Berkman, Benjamin, Pope, Kathleen, Vatta, Matteo, Kaur, Shagun

Source: In Genetics in Medicine August 2024 26(8)

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Authors: Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.

Source: American journal of human genetics. 104(4):709-720

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087578543.0x000001&indx=1&recIds=ETOCvdc_100087578543.0x000001

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

Authors: Pringsheim, Milka, Mitter, Diana, Schröder, Simone, Warthemann, Rita, Plümacher, Kim, Kluger, Gerhard, Baethmann, Martina, Bast, Thomas, Braun, Sarah, Büttel, Hans‐Martin, Conover, Elizabeth, Courage, Carolina, Datta, Alexandre N., Eger, Angelika, Grebe, Theresa A., Hasse‐Wittmer, Annette, Heruth, Marion, Höft, Karen, Kaindl, Angela M., Karch, Stephanie, Kautzky, Torsten, Korenke, Georg C., Kruse, Bernd, Lutz, Richard E., Omran, Heymut, Patzer, Steffi, Philippi, Heike, Ramsey, Keri, Rating, Tina, Rieß, Angelika, Schimmel, Mareike, Westman, Rachel, Zech, Frank‐Martin, Zirn, Birgit, Ulmke, Pauline A., Sokpor, Godwin, Tuoc, Tran, Leha, Andreas, Staudt, Martin, Brockmann, Knut

Source: Annals of clinical and translational neurology. 6(4):655-668

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083318578.0x000001&indx=1&recIds=ETOCvdc_100083318578.0x000001

Human Chromosome 7: DNA Sequence and Biology

Authors: Scherer, Stephen W., Cheung, Joseph, MacDonald, Jeffrey R., Osborne, Lucy R., Nakabayashi, Kazuhiko, Herbrick, Jo-Anne, Carson, Andrew R., Parker-Katiraee, Layla, Skaug, Jennifer, Khaja, Razi, Zhang, Junjun, Hudek, Alexander K., Li, Martin, Haddad, May, Duggan, Gavin E., Fernandez, Bridget A., Kanematsu, Emiko, Gentles, Simone, Christopoulos, Constantine C., Choufani, Sanaa, Kwasnicka, Dorota, Zheng, Xiangqun H., Lai, Zhongwu, Nusskern, Deborah, Zhang, Qing, Gu, Zhiping, Lu, Fu, Zeesman, Susan, Nowaczyk, Malgorzata J., Teshima, Ikuko, Chitayat, David, Shuman, Cheryl, Weksberg, Rosanna, Zackai, Elaine H., Grebe, Theresa A., Cox, Sarah R., Kirkpatrick, Susan J., Rahman, Nazneen, Friedman, Jan M., Pelicci, Pier Giuseppe, Lo-Coco, Francesco, Belloni, Elena, Shaffer, Lisa G., Pober, Barbara, Morton, Cynthia C., Gusella, James F., Korf, Bruce R., Quade, Bradley J., Ligon, Azra H., Ferguson, Heather, Higgins, Anne W., Leach, Natalia T., Herrick, Steven R., Lemyre, Emmanuelle, Farra, Chantal G., Kim, Hyung-Goo, Summers, Anne M., Gripp, Karen W., Roberts, Wendy, Szatmari, Peter, Grzeschik, Karl-Heinz, Teebi, Ahmed, Minassian, Berge A., Kere, Juha, Armengol, Lluis, Pujana, Miguel Angel, Estivill, Xavier, Wilson, Michael D., Koop, Ben F., Tosi, Sabrina, Moore, Gudrun E., Boright, Andrew P., Zlotorynski, Eitan, Kerem, Batsheva, Kroisel, Peter M., Petek, Erwin, Oscier, David G., Mould, Sarah J., Döhner, Hartmut, Döhner, Konstanze, Rommens, Johanna M., Vincent, John B., Venter, J. Craig, Li, Peter W., Mural, Richard J., Adams, Mark D., Tsui, Lap-Chee

Source: Science, 2003 May 01. 300(5620), 767-772.

Access URL: https://www.jstor.org/stable/3834252

P312: Value of early evaluations with comprehensive genetic testing in congenital heart disease and childhood onset heart failure: Case report

Authors: Prakash, Supraja, Zangwill, Steven, Scott, E'Lashae Richards, Grebe, Theresa

Source: In Genetics in Medicine Open 2024 2 Supplement 1

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

Authors: Douglas, Ganka, Cho, Megan T., Telegrafi, Aida, Winter, Susan, Carmichael, Jason, Zackai, Elaine H., Deardorff, Matthew A., Harr, Margaret, Williams, Linford, Psychogios, Apostolos, Erwin, Angelika L., Grebe, Theresa, Retterer, Kyle, Juusola, Jane

Source: American journal of medical genetics.Part A. 176(9):1845-1851

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083917446.0x000001&indx=1&recIds=ETOCvdc_100083917446.0x000001

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Authors: Mitter, Diana, Pringsheim, Milka, Kaulisch, Marc, Plümacher, Kim Sarah, Schröder, Simone, Warthemann, Rita, Abou Jamra, Rami, Baethmann, Martina, Bast, Thomas, Büttel, Hans-Martin, Cohen, Julie S, Conover, Elizabeth, Courage, Carolina, Eger, Angelika, Fatemi, Ali, Grebe, Theresa A, Hauser, Natalie S, Heinritz, Wolfram, Helbig, Katherine L, Heruth, Marion, Huhle, Dagmar, Höft, Karen, Karch, Stephanie, Kluger, Gerhard, Korenke, G Christoph, Lemke, Johannes R, Lutz, Richard E, Patzer, Steffi, Prehl, Isabelle, Hoertnagel, Konstanze, Ramsey, Keri, Rating, Tina, Rieß, Angelika, Rohena, Luis, Schimmel, Mareike, Westman, Rachel, Zech, Frank-Martin, Zoll, Barbara, Malzahn, Dörthe, Zirn, Birgit, Brockmann, Knut

Source: Genetics in medicine. 20(1):98-108

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129950406.0x000001&indx=1&recIds=ETOCvdc_100129950406.0x000001