부산대학교 도서관

Young, Randee E.; Qiao, Lu; Hernan, Rebecca; Sweetser, David A.; Waxler, Jessica L.; Scott, Daryl A.; Scott, Tiana M.; Lalani, Seema R.; Azamian, Mahshid S.; Rosenfeld, Jill A.; Bostwick, Bret; Burrage, Lindsay C.; Rodan, Lance H.; Russell, Bianca E.; Dutra-Clarke, Marina; Kruer, Michael; Bakhtiarim, Somayeh; Darvish, Hossein; Amor, David J.; Rahman, Shamima; Stals, Karen; Bradley, Lisa; Byrne, Susan; Tolusso, Leandra K.; Wong, Beatrix; Benedict, Laura; Wallis, Kimberly; Micke, Kestutis; Colson, Cindy; Smol, Thomas; Southwick, Sabrina V.; Miller, Kristen A.; Kush, Michelle L.; Chorin, Odelia; Rothschild, Annick; Wang, Wei; Shen, Yufeng; Chung, Wendy K.

CLINICAL GENETICS; SEP 10 2025, 21p.

Anna Fliedner; Philipp Kirchner; Antje Wiesener; Irma van de Beek; Quinten Waisfisz; Mieke van Haelst; Daryl A. Scott; Seema R. Lalani; Jill A. Rosenfeld; Mahshid S. Azamian; Fan Xia; Marina Dutra-Clarke; Julian A. Martinez-Agosto; Hane Lee; Stanley F. Nelson; Wayne W. Grody; Joshua L. Deignan; Sung-Hae Kang; Valerie A. Arboleda; T. Niroshi Senaratne; Naghmeh Dorrani; Marina S. Dutra-Clarke; Jessica Kianmahd; Franceska L. Hinkamp; Ahna M. Neustadt; Brent L. Fogel; Fabiola Quintero-Rivera; Grace J. Noh; Natalie Lippa; Anna Alkelai; Vimla Aggarwal; Katherine E. Agre; Ralitza Gavrilova; Ghayda M. Mirzaa; Rachel Straussberg; Rony Cohen; Brooke Horist; Vidya Krishnamurthy; Kirsty McWalter; Jane Juusola; Laura Davis-Keppen; Lisa Ohden; Marjon van Slegtenhorst; Stella A. de Man; Arif B. Ekici; Anne Gregor; Ingrid van de Laar; Christiane Zweier

Fliedner, A, Kirchner, P, Wiesener, A, van de Beek, I, Waisfisz, Q, van Haelst, M, Scott, D A, Lalani, S R, Rosenfeld, J A, Azamian, M S, Xia, F, Dutra-Clarke, M, Martinez-Agosto, J A, Lee, H, Noh, G J, Lippa, N, Alkelai, A, Aggarwal, V, Agre, K E, Gavrilova, R, Mirzaa, G M, Straussberg, R, Cohen, R, Horist, B, Krishnamurthy, V, McWalter, K, Juusola, J, Davis-Keppen, L, Ohden, L, van Slegtenhorst, M, de Man, S A, Ekici, A B, Gregor, A, van de Laar, I, Zweier, C & UCLA Clinical Genomics Center 2020, 'Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing', American journal of human genetics, vol. 107, no. 3, pp. 544-554. https://doi.org/10.1016/j.ajhg.2020.06.019

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

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

Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A; Lalani, Seema R; Rosenfeld, Jill A; Azamian, Mahshid S; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Center, UCLA Clinical Genomics; Nelson, Stanley F; Grody, Wayne W; Deignan, Joshua L; Kang, Sung-Hae; Arboleda, Valerie A; Senaratne, T Niroshi; Dorrani, Naghmeh; Dutra-Clarke, Marina S; Kianmahd, Jessica; Hinkamp, Franceska L; Neustadt, Ahna M; Fogel, Brent L; Quintero-Rivera, Fabiola; Noh, Grace J; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E; Gavrilova, Ralitza; Mirzaa, Ghayda M; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A; Ekici, Arif B; Gregor, Anne; van de Laar, Ingrid; Zweier, Christiane

American Journal of Human Genetics, vol 107, iss 3

Brian, Na; Anthony C, Wang; Christopher Travis, Watterson; Julian, Martinez-Agosto; Sulagna, Saitta; Marina, Dutra-Clarke; Franceska, Bhansali; Stacy L, Pineles; Vivian Y, Chang; Veeral S, Shah; Peter, de Blank

Pediatric Hematology and Oncology. 40:800-806

Elisa Calì; Mohnish Suri; Marcello Scala; Matteo P. Ferla; Shahryar Alavi; Eissa Faqeih; Emilia K. Bijlsma; Kristen Wigby; Diana Baralle; Mohammad Yahya Vahidi Mehrjardi; Jennifer Schwab; Konrad Platzer; Katharina Steindl; Mais Hashem; Marilyn C. Jones; Dmitriy Niyazov; Jennifer Jacober; Rebecca O. Littlejohn; Denisa Weis; Neda Zadeh; Lance H. Rodan; Alice Goldenberg; François Lecoquierre; Marina Dutra‐Clarke; Gabriella Horváth; Dana Young; Naama Orenstein; Shahad Bawazeer; Anneke T. Vulto‐van Silfhout; Yvan Herenger; Mohammadreza Dehghani; Seyed Mohammad Seyedhassani; Amir Bahreini; Mahya Ebrahimi Nasab; A. Gulhan Ercan‐Sencicek; Zahra Firoozfar; Mojtaba Movahedinia; Stéphanie Efthymiou; Pasquale Striano; Ehsan Ghayoor Karimiani; Vincenzo Salpietro; Jenny C. Taylor; Melody Redman; Alexander P.A. Stegmann; Andreas Laner; Ghada M.H. Abdel‐Salam; Megan Li; Mario Bengala; Amelie J. Müller; María Cristina Digilio; Anita Rauch; Murat Günel; Hannah Titheradge; Daniela N. Schweitzer; Alison Kraus; Irene Valenzuela; Scott McLean; Chanika Phornphutkul; Mustafa A. Salih; Amber Begtrup; Rhonda E. Schnur; Erin Torti; Tobias B. Haack; Carlos E. Prada; Fowzan S. Alkuraya; Henry Houlden; Reza Maroofian

Genet Med
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 25, 1, pp. 135-142

Tyrer, Jonathan; Shen, Howard C; Lawrenson, Kate; Lee, Janet M; Spindler, Tassja J; Lin, Yvonne G; Pejovic, Tanja; Bean, Yukie; Li, Qiyuan; Coetzee, Simon; Hazelett, Dennis; Isaccs, Claudine; Hein, Alexander; Ekici, Arif B; Beckmann, Matthias W; Fasching, Peter A; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Lambrechts, Sandrina; Doherty, Jennifer A; Wicklund, Kristine G; Rossing, Mary Anne; Rudolph, Anja; Chang-Claude, Jenny; Wang-Gohrke, Shan; Eilber, Ursula; Lele, Shashi; Wilkens, Lynne R; Goodman, Marc T; Thompson, Pamela J; Shvetsov, Yurii B; Runnebaum, Ingo B; Dürst, Matthias; Hillemanns, Peter; Dörk, Thilo; Antonenkova, Natalia; Bogdanova, Natalia; Leminen, Arto; Pelttari, Liisa M; Butzow, Ralf; Modugno, Francesmary; Kelley, Joseph L; Edwards, Robert P; Ness, Roberta B; du Bois, Andreas; Heitz, Florian; Schwaab, Ira; Harter, Philipp; Matsuo, Keitaro; Hosono, Satoyo; Jensen, Allan; Kjaer, Susanne Kruger; Hogdall, Estrid; Hasmad, Hanis Nazihah; Azmi, Mat Adenan 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Nat Genet
Articles publicats en revistes (Ciències Clíniques)
Dipòsit Digital de la UB
instname
Universidad de Barcelona
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Recercat. Dipósit de la Recerca de Catalunya
Digital.CSIC. Repositorio Institucional del CSIC
Nature Genetics, 47, 2, pp. 164-71
Kuchenbaecker, K B, Ramus, S J, Tyrer, J, Lee, A, Shen, H C, Beesley, J, Lawrenson, K, McGuffog, L, Healey, S, Lee, J M, Spindler, T J, Lin, Y G, Pejovic, T, Bean, Y, Li, Q, Coetzee, S, Hazelett, D, Miron, A, Southey, M, Terry, M B, Goldgar, D E, Buys, S S, Janavicius, R, Dorfling, C M, van Rensburg, E J, Neuhausen, S L, Ding, Y C, Hansen, T V O, Jønson, L, Gerdes, A-M, Ejlertsen, B, Barrowdale, D, Dennis, J, Benitez, J, Osorio, A, Garcia, M J, Komenaka, I, Weitzel, J N, Ganschow, P, Peterlongo, P, Bernard, L, Viel, A, Bonanni, B, Peissel, B, Manoukian, S, Radice, P, Papi, L, Kruse, T A, Thomassen, M, Bojesen, A & EMBRACE 2015, ' Identification of six new susceptibility loci for invasive epithelial ovarian cancer ', Nature Genetics, vol. 47, no. 2, pp. 164-171 . https://doi.org/10.1038/ng.3185
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Gi Bum Kim; David Rincon Fernandez Pacheco; David Saxon; Amy Yang; Sara Sabat; Marina Dutra-Clarke; Rachelle Levy; Ashley Watkins; Hannah Park; Aslam Abbasi Akhtar; Paul W. Linesch; Naomi Kobritz; Swasty S. Shandra; Katie Grausam; Alberto Ayala-Sarmiento; Jessica Molina; Kristyna Sedivakova; Daniel S. Gareau; Mariella G. Filbin; Serguei Bannykh; Jie Tang; Mario L. Suva; Bin Chen; Moise Danielpour; Joshua J. Breunig

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Gi Bum Kim; David Rincon Fernandez Pacheco; David Saxon; Amy Yang; Sara Sabet; Marina Dutra-Clarke; Rachelle Levy; Ashley Watkins; Hannah Park; Aslam Abbasi Akhtar; Paul W. Linesch; Naomi Kobritz; Swasty S. Chandra; Katie Grausam; Alberto Ayala- Sarmiento; Jessica Molina; Kristyna Sedivakova; Daniel S. Gareau; Mariella G. Filbin; Serguei Bannykh; Jie Tang; Mario Suva; Bin Chen; Moise Danielpour; Joshua J. Breunig

Cancer Research. 80:PR11-PR11

Kim, Gi Bum ; Rincon Fernandez Pacheco, David ; Saxon, David ; Yang, Amy ; Sabet, Sara ; Dutra-Clarke, Marina ; Levy, Rachelle ; Watkins, Ashley ; Park, Hannah ; Abbasi Akhtar, Aslam ; Linesch, Paul W. ; Kobritz, Naomi ; Chandra, Swasty S. ; Grausam, Katie ; Ayala-Sarmiento, Alberto ; Molina, Jessica ; Sedivakova, Kristyna ; Hoang, Kendy ; Tsyporin, Jeremiah ; Gareau, Daniel S. ; Filbin, Mariella G. ; Bannykh, Serguei ; Santiskulvong, Chintda ; Wang, Yizhou ; Tang, Jie ; Suva, Mario L. ; Chen, Bin ; Danielpour, Moise ; Breunig, Joshua J.

In Cell 19 September 2019 179(1):251-267

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EPILEPSIA; FEB 2021, 62 2, pE35-pE41, 7p.

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Kim, Gi Bum; Pacheco, David Rincon Fernandez; Saxon, David; Yang, Amy; Sabet, Sara; Dutra-Clarke, Marina; Levy, Rachelle; Watkins, Ashley; Park, Hannah; Akhtar, Aslam Abbasi; Linesch, Paul W.; Kobritz, Naomi; Chandra, Swasty S.; Grausam, Katie; Ayala-Sarmiento, Alberto; Molina, Jessica; Sedivakova, Kristyna; Gareau, Daniel S.; Filbin, Mariella G.; Bannykh, Serguei; Tang, Jie; Suva, Mario; Chen, Bin; Danielpour, Moise; Breunig, Joshua J.

CANCER RESEARCH; JUN 2020, 80 11, p28-p29, 2p. Supplement: S

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA; APR 11 2017, 114 15, p3981-p3986, 6p.