Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Authors: Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair

Source: Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/490c3c6f5efa46c79fc60769df8db9e9

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects

Authors: Baker, Elizabeth K., Solivio, Beulah, Pode‐Shakked, Ben, Cross, Laura Ann, Sullivan, Bonnie, Raas‐Rothschild, Annick, Chorin, Odelia, Barel, Ortal, Bar‐Yosef, Omer, Husami, Ammar, Hopkin, Robert J., Prada, Carlos E., Stottmann, Rolf W., Weaver, Kathryn Nicole

Source: American journal of medical genetics.Part A. 188(11):3262-3277

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163936519.0x000001&indx=1&recIds=ETOCvdc_100163936519.0x000001

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Authors: Stephenson, Sarah E.M., Costain, Gregory, Blok, Laura E.R., Silk, Michael A., Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E., Dowling, James J., Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z., Rodan, Lance H., Schwartz, Marc A., Picker, Jonathan, Lynch, Sally A., Gupta, Aditi, Rasmussen, Kristen J., Schimmenti, Lisa A., Klee, Eric W., Niu, Zhiyv, Agre, Katherine E., Chilton, Ilana, Chung, Wendy K., Revah-Politi, Anya, Au, P.Y. Billie, Griffith, Christopher, Racobaldo, Melissa, Raas-Rothschild, Annick, Ben Zeev, Bruria, Barel, Ortal, Moutton, Sebastien, Morice-Picard, Fanny, Carmignac, Virginie, Cornaton, Jenny, Marle, Nathalie, Devinsky, Orrin, Stimach, Chandler, Wechsler, Stephanie Burns, Hainline, Bryan E., Sapp, Katie, Willems, Marjolaine, Bruel, Ange-line, Dias, Kerith-Rae, Evans, Carey-Anne, Roscioli, Tony, Sachdev, Rani, Temple, Suzanna E.L., Zhu, Ying, Baker, Joshua J., Scheffer, Ingrid E., Gardiner, Fiona J., Schneider, Amy L., Muir, Alison M., Mefford, Heather C., Crunk, Amy, Heise, Elizabeth M., Millan, Francisca, Monaghan, Kristin G., Person, Richard, Rhodes, Lindsay, Richards, Sarah, Wentzensen, Ingrid M., Cogné, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Vincent, Marie, Besnard, Thomas, Piton, Amelie, Marcelis, Carlo, Kato, Kohji, Koyama, Norihisa, Ogi, Tomoo, Goh, Elaine Suk-Ying, Richmond, Christopher, Amor, David J., Boyce, Jessica O., Morgan, Angela T., Hildebrand, Michael S., Kaspi, Antony, Bahlo, Melanie, Friðriksdóttir, Rún, Katrínardóttir, Hildigunnur, Sulem, Patrick, Stefánsson, Kári, Björnsson, Hans Tómas, Mandelstam, Simone, Morleo, Manuela, Mariani, Milena, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Capra, Valeria, Wallis, Mathew, Jansen, Sandra, Waisfisz, Quinten, de Haan, Hugoline, Sadedin, Simon, Lim, Sze Chern, White, Susan M., Ascher, David B., Schenck, Annette, Lockhart, Paul J., Christodoulou, John, Tan, Tiong Yang

Source: American journal of human genetics. 109(4):601-617

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161203049.0x000001&indx=1&recIds=ETOCvdc_100161203049.0x000001

What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?

Authors: Liber, Shiri, Staretz-Chacham, Orna, Kishon, Mor, Pode-Shakked, Ben, Chorin, Odelia, Kneller, Katya, Anikster, Yair, Mangisto, Geto, Saada, Ann, Raas-Rothschild, Annick

Source: Molecular syndromology. 13(1):45-49

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139841118.0x000001&indx=1&recIds=ETOCvdc_100139841118.0x000001

Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity

Authors: Chorin, Odelia, Chowers, Guy, Agbariah, Rawan, Karklinsky, Shani, Barel, Ortal, Bar-Joseph, Ifat, Reznik-Wolf, Haike, Shamash, Jana, Pode-Shakked, Ben, Jacobson, Jeffrey M., Huna-Baron, Ruth, Redler, Yael, Tirosh, Irit, Vivante, Asaf, Raas-Rothschild, Annick

Source: In European Journal of Medical Genetics January 2022 65(1)

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

Authors: Maayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Michal Stern-Zimmer, Aviva Eliyahu, Annick Raas-Rothschild, Maayan Bivas, Omer Shlomovitz, Odelia Chorin, Rachel Rock, Michal Tzadok, Bruria Ben-Zeev, Gali Heimer, Yoav Bolkier, Noah Gruber, Adi Dagan, Bat El Bar Aluma, Itai M. Pessach, Gideon Rechavi, Ortal Barel, Ben Pode-Shakked, Yair Anikster, Asaf Vivante

Source: Frontiers in Genetics, Vol 13 (2023)

Subject Terms: exome sequencing (ES), general pediatrics, monogenic, hospitalized, inpatient, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1018062/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/5ffe107900c941c4ab532f5edb295397

Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature

Authors: Merdler-Rabinowicz, Rona, Prat, Daphna, Pode-Shakked, Ben, Abel, Gali, Chorin, Odelia, Somech, Raz, Raas-Rothschild, Annick

Source: In European Journal of Medical Genetics June 2021 64(6)

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

Authors: Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, Lior Greenbaum

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/e733bb6318cd4cbcadc0d78a11b7a3cd

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

Authors: Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Odeya David, Eilon Shany, Annick Raas-Rothschild, Yair Anikster, Katya Kneller, Eli Hershkovitz, Yuval E. Landau, Ronen Spiegel, Yoav Zehavi, Orna Staretz-Chacham

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)

Subject Terms: Lysosomal storage disorder, COVID-19, Enzyme replacement therapy, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/8b5cbfe869724833b439ca921dcf05fd

Vici syndrome in Israel: Clinical and molecular insights

Authors: Odelia Chorin, Yoel Hirsch, Rachel Rock, Liat Salzer Sheelo, Yael Goldberg, Hanna Mandel, Tova Hershkovitz, Nicole Fleischer, Lior Greenbaum, Uriel Katz, Ortal Barel, Nasrin Hamed, Bruria Ben-Zeev, Shoshana Greenberger, Nadra Nasser Samra, Michal Stern Zimmer, Annick Raas-Rothschild, Ben Pode-Shakked

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: EPG5, Vici syndrome, congenital cataract, agenesis of corpus callosum, global developmental delay, cardiomyopathy, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.991721/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/8e8a48b5d2af47e29c4d8e95ea739427

Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping

Authors: Pode-Shakked, Ben, Finezilber, Yael, Levi, Yonit, Liber, Shiri, Fleischer, Nicole, Greenbaum, Lior, Raas-Rothschild, Annick

Source: In European Journal of Medical Genetics July 2020 63(7)

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

Authors: Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Subject Terms: EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Authors: Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair

Source: Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/4d17ed3fcc1b46bc9b7e947038dedff7

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

Authors: Aviva Eliyahu, Ortal Barel, Lior Greenbaum, Gal Zaks Hoffer, Yael Goldberg, Annick Raas-Rothschild, Amihood Singer, Ifat Bar-Joseph, Vered Kunik, Elisheva Javasky, Orna Staretz-Chacham, Naomi Pode-Shakked, Lily Bazak, Noa Ruhrman-Shahar, Elon Pras, Moshe Frydman, Mordechai Shohat, Ben Pode-Shakked

Source: Frontiers in Pediatrics, Vol 10 (2022)

Subject Terms: KMT5B, intellectual disability, developmental delay, de novo, macrocephaly, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.844845/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/8342e62b779147fdbc13b6a3c37a4529

PEDIA: prioritization of exome data by image analysis

Authors: Hsieh, Tzung-Chien ^{1, 2, 3}, Mensah, Martin A. ^{2, 3}, Pantel, Jean T. ^{1, 2, 3}, Aguilar, Dione ⁴, Bar, Omri ⁵, Bayat, Allan ⁶, Becerra-Solano, Luis ⁷, Bentzen, Heidi B. ⁸, Biskup, Saskia ⁹, Borisov, Oleg ¹, Braaten, Oivind ¹⁰, Ciaccio, Claudia ¹¹, Coutelier, Marie ², Cremer, Kirsten ¹², Danyel, Magdalena ², Daschkey, Svenja ¹³, Eden, Hilda David ⁵, Devriendt, Koenraad ¹⁴, Wilson, Sandra ¹⁵, Douzgou, Sofia ^{16, 17}, Đukić, Dejan ¹, Ehmke, Nadja ², Fauth, Christine ¹⁸, Fischer-Zirnsak, Björn ², Fleischer, Nicole ⁵, Gabriel, Heinz ¹⁹, Graul-Neumann, Luitgard ², Gripp, Karen W. ²⁰, Gurovich, Yaron ⁵, Gusina, Asya ²¹, Haddad, Nechama ², Hajjir, Nurulhuda ², Hanani, Yair ⁵, Hertzberg, Jakob ², Hoertnagel, Konstanze ⁹, Howell, Janelle ²², Ivanovski, Ivan ²³, Kaindl, Angela ²⁴, Kamphans, Tom ²⁵, Kamphausen, Susanne ²⁶, Karimov, Catherine ²⁷, Kathom, Hadil ²⁸, Keryan, Anna ²⁷, Knaus, Alexej ¹, Köhler, Sebastian ²⁹, Kornak, Uwe ², Lavrov, Alexander ³⁰, Leitheiser, Maximilian ², Lyon, Gholson J. ³¹, Mangold, Elisabeth ³², Reina, Purificación Marín ³³, Carrascal, Antonio Martinez ³⁴, Mitter, Diana ³⁵, Herrador, Laura Morlan ³⁶, Nadav, Guy ⁵, Nöthen, Markus ¹², Orrico, Alfredo ³⁷, Ott, Claus-Eric ², Park, Kristen ³⁸, Peterlin, Borut ³⁹, Pölsler, Laura ¹⁸, Raas-Rothschild, Annick ⁴⁰, Randolph, Linda ²⁷, Revencu, Nicole ⁴¹, Fagerberg, Christina Ringmann ⁴², Robinson, Peter Nick ⁴³, Rosnev, Stanislav ², Rudnik, Sabine ¹⁸, Rudolf, Gorazd ³⁹, Schatz, Ulrich ¹⁸, Schossig, Anna ¹⁸, Schubach, Max ³, Shanoon, Or ⁵, Sheridan, Eamonn ⁴⁴, Smirin-Yosef, Pola ⁴⁵, Spielmann, Malte ², Suk, Eun-Kyung ⁴⁶, Sznajer, Yves ⁴⁷, Thiel, Christian T. ⁴⁸, Thiel, Gundula ⁴⁶, Verloes, Alain ⁴⁹, Vrecar, Irena ³⁹, Wahl, Dagmar ⁵⁰, Weber, Ingrid ¹⁸, Winter, Korina ², Wiśniewska, Marzena ⁵¹, Wollnik, Bernd ⁵², Yeung, Ming W. ¹, Zhao, Max ², Zhu, Na ², Zschocke, Johannes ¹⁸, Mundlos, Stefan ², Horn, Denise ², Krawitz, Peter M. ¹

Source: In Genetics in Medicine December 2019 21(12):2807-2814

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

Authors: Weisz-Hubshman, M., Meirson, H., Michaelson-Cohen, R., Beeri, R., Tzur, S., Bormans, C., Modai, S., Shomron, N., Shilon, Y., Banne, E., Orenstein, N., Konen, O., Marek-Yagel, D., Veber, A., Shalva, N., Imagawa, E., Matsumoto, N., Lev, D., Lerman Sagie, T., Raas-Rothschild, A., Ben-Zeev, B., Basel-Salmon, L., Behar, D.M., Heimer, G.

Source: In European Journal of Paediatric Neurology May 2019 23(3):418-426

Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)

Authors: Assia Batzir, Nurit, Posey, Jennifer E., Song, Xiaofei, Akdemir, Zeynep Coban, Rosenfeld, Jill A., Brown, Chester W., Chen, Emily, Holtrop, Shannon G., Mizerik, Elizabeth, Nieto Moreno, Margarita, Payne, Katelyn, Raas‐Rothschild, Annick, Scott, Richard, Vernon, Hilary J., Zadeh, Neda, Lupski, James R., Sutton, V. Reid

Source: American journal of medical genetics.Part A. 182(1):38-52

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100095808602.0x000001&indx=1&recIds=ETOCvdc_100095808602.0x000001

A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds

Authors: Marek‐Yagel, Dina, Bolkier, Yoav, Barel, Ortal, Vardi, Amir, Mishali, David, Katz, Uriel, Salem, Yishay, Abudi, Shachar, Nayshool, Omri, Kol, Nitzan, Raas‐Rothschild, Annick, Rechavi, Gideon, Anikster, Yair, Pode‐Shakked, Ben

Source: American journal of medical genetics.Part A. 182(5):987-993

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107029428.0x000001&indx=1&recIds=ETOCvdc_100107029428.0x000001

Ethical Dilemmas Linked to Fragile X Testing of Minors—a Preliminary Survey Among Professionals

Authors: Gabis, Lidia V., Shefer, Shahar, Raas-Rothschild, Annick

Source: Journal of molecular neuroscience. 70(2):254-259

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161924815.0x000001&indx=1&recIds=ETOCvdc_100161924815.0x000001

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder

Authors: Greenbaum, Lior, Gilboa, Yinon, Raas-Rothschild, Annick, Barel, Ortal, Kol, Nitzan, Reznik-Wolf, Haike, Pode-Shakked, Ben, Finezilber, Yael, Messing, Baruch, Berkenstadt, Michal

Source: In European Journal of Medical Genetics March 2019 62(3):167-171