litlas
Log inCreate account

Rosanna Weksberg

Active 1979–2025

135
Papers
24,151
Citations
86
h-index
133
i10-index

Citations

Citations per year for Rosanna Weksberg1966: 1 citations1981: 1 citations1982: 1 citations1985: 2 citations1988: 2 citations1989: 5 citations1990: 3 citations1991: 1 citations1992: 5 citations1993: 6 citations1994: 23 citations1995: 25 citations1996: 30 citations1997: 43 citations1998: 35 citations1999: 46 citations2000: 62 citations2001: 55 citations2002: 79 citations2003: 91 citations2004: 83 citations2005: 142 citations2006: 122 citations2007: 106 citations2008: 167 citations2009: 193 citations2010: 215 citations2011: 210 citations2012: 223 citations2013: 272 citations2014: 244 citations2015: 271 citations2016: 246 citations2017: 263 citations2018: 294 citations2019: 777 citations2020: 754 citations2021: 707 citations2022: 577 citations2023: 382 citations2024: 554 citations2025: 222 citations2026: 9 citations1967–1980: no citations, so these years are not shown1983–1984: no citations, so these years are not shown1986–1987: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 3,111 citing papers, 26.2% of this breakdownUnited Kingdom: 1,105 citing papers, 9.3% of this breakdownCanada: 927 citing papers, 7.8% of this breakdownGermany: 663 citing papers, 5.6% of this breakdownNetherlands: 539 citing papers, 4.5% of this breakdownChina: 533 citing papers, 4.5% of this breakdownFrance: 530 citing papers, 4.5% of this breakdownItaly: 498 citing papers, 4.2% of this breakdownAustralia: 414 citing papers, 3.5% of this breakdownSpain: 309 citing papers, 2.6% of this breakdownJapan: 258 citing papers, 2.2% of this breakdownSweden: 238 citing papers, 2% of this breakdown
0%26.2%Other 23.1%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology62.1%
  • Medicine21.5%
  • Neuroscience12.7%
  • Psychology0.9%
  • Immunology and Microbiology0.8%
  • Environmental Science0.7%
  • Other1.3%

Topics

  • Epigenetics and DNA Methylation8.4%
  • Genetics and Neurodevelopmental Disorders6.9%
  • Genomic variations and chromosomal abnormalities5%
  • Autism Spectrum Disorder Research4.9%
  • Genomics and Rare Diseases4.8%
  • Genetic Syndromes and Imprinting4.4%
  • Other65.6%

Coauthors

All papers

Open in search
  1. Genomic architecture of autism from comprehensive whole-genome sequence annotation

    Authors: Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer Howe, Lívia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, J. Andrew Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W. L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D’Abate, Clarrisa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sérgio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma’n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Péter Szatmári, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas Frazier, Jacob Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M. E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K. C. Yuen, Evdokia Anagnostou and 4 more - Cell 2022 cited by 288

  2. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

    Authors: Ryan K. C. Yuen, Daniele Merico, Matt Bookman, Jennifer Howe, Bhooma Thiruvahindrapuram, Rohan Patel, J. Andrew Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang, Giovanna Pellecchia, Janet A. Buchanan, Susan Walker, Christian R. Marshall, Mohammed Uddin, Mehdi Zarrei, Éric Deneault, Lia D’Abate, Ada J. S. Chan, Stephanie Koyanagi, Tara Paton, Sérgio L. Pereira, Ny Hoang, Worrawat Engchuan, Edward J. Higginbotham, Karen Ho, Sylvia Lamoureux, Weili Li, Jeffrey R. MacDonald, Thomas Nalpathamkalam, Wilson W. L. Sung, Fiona J. Tsoi, John Wei, Lizhen Xu, Anne-Marie Tasse, Emily Kirby, William Van Etten, Simon Twigger, Wendy Roberts, Irene Drmic, Sanne Jilderda, Bonnie MacKinnon Modi, Barbara Kellam, Michael J. Szego, Cheryl Cytrynbaum, Rosanna Weksberg, Lonnie Zwaigenbaum, Marc Woodbury‐Smith, Jessica Brian, Lili Senman, Alana Iaboni, Krissy A.R. Doyle‐Thomas, Ann Thompson, Christina Chrysler, Jonathan Leef, Tal Savion‐Lemieux, Isabel M. Smith, Xudong Liu, Rob Nicolson, Vicki Seifer, Angie Fedele, Edwin H. Cook, Stephen R. Dager, Annette Estes, Louise Gallagher, Beth A. Malow, Jeremy Parr, Sarah Spence, Jacob Vorstman, Brendan J. Frey, James Robinson, Lisa J. Strug, Bridget A. Fernandez, Mayada Elsabbagh, Melissa T. Carter, Joachim Hallmayer, Bartha Maria Knoppers, Evdokia Anagnostou, Péter Szatmári, Robert H. Ring, David Glazer, Mathew T. Pletcher, Stephen W. Scherer - Nature Neuroscience 2017 cited by 936

  3. Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray

    Authors: Y. Ann Chen, Mathieu Lemire, Sanaa Choufani, Darci T. Butcher, Daria Grafodatskaya, Brent W. Zanke, Steven Gallinger, Thomas J. Hudson, Rosanna Weksberg - Epigenetics 2013 cited by 1,719

  4. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

    Authors: Anath C. Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S. Reuter, S. Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W. L. Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T. Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon Dell, Priya Dhir, James J. Dowling, Elise Héon, Stacy Hewson, Linda T. Hiraki, Michal Inbar‐Feigenberg, Regan Klatt, Jonathan B. Kronick, Ronald M. Laxer, Christoph Licht, H. Robson MacDonald, Saadet Mercimek‐Andrews, Roberto Mendoza‐Londono, Tino D. Piscione, Rayfel Schneider, Andreas Schulze, Earl D. Silverman, Komudi Siriwardena, O. Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D. Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J. Szego, Robin Z. Hayeems, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Sarah Bowdin, M. Stephen Meyn, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall - Genetics in Medicine 2017 cited by 565

  5. Structural Variation of Chromosomes in Autism Spectrum Disorder

    Authors: Christian R. Marshall, Abdul Noor, John B. Vincent, Anath C. Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren, Bhooma Thiruvahindrapduram, Andreas Fiebig, Stefan Schreiber, Jan M. Friedman, Cees Ketelaars, Yvonne J. Vos, Can Fıçıcıoğlu, Susan J. Kirkpatrick, Rob Nicolson, Leon Sloman, Anne Summers, Clare Gibbons, Ahmad S. Teebi, David Chitayat, Rosanna Weksberg, Ann Thompson, Cathy Vardy, Vicki Crosbie, Sandra Luscombe, Rebecca Baatjes, Lonnie Zwaigenbaum, Wendy Roberts, Bridget A. Fernandez, Péter Szatmári, Stephen W. Scherer - The American Journal of Human Genetics 2008 cited by 1,843

  6. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    Authors: Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns - Nature Genetics 2012 cited by 753

  7. Vitamin D Supplementation in Pregnancy and Lactation and Infant Growth

    Authors: Daniel Roth, Shaun K. Morris, Stanley Zlotkin, Alison D. Gernand, Tahmeed Ahmed, Shaila S. Shanta, Eszter Papp, Jill Korsiak, Joy Shi, M Munirul Islam, Ishrat Jahan, Farhana K. Keya, Andrew R. Willan, Rosanna Weksberg, Minhazul Mohsin, Qazi Sadeq-ur Rahman, Prakesh S. Shah, Kellie E. Murphy, Jennifer Stimec, Lisa G. Pell, Huma Qamar, Abdullah Al Mahmud - New England Journal of Medicine 2018 cited by 263

  8. Placental epigenetic clocks: estimating gestational age using placental DNA methylation levels

    Authors: Yunsung Lee, Sanaa Choufani, Rosanna Weksberg, Samantha L. Wilson, Victor Yuan, Amber Burt, Carmen J. Marsit, Ake T. Lu, Beate Ritz, Jon Bohlin, Håkon K. Gjessing, Jennifer R. Harris, Per Magnus, Alexandra M. Binder, Wendy P. Robinson, Astanand Jugessur, Steve Horvath - Aging 2019 cited by 170

  9. Imprinting disorders

    Authors: Thomas Eggermann, David Monk, Guiomar Pérez de Nanclares, Masayo Kagami, Éloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M. Kalish, M. Tauber, Jessica Duis, Rosanna Weksberg, Eamonn R. Maher, Matthias Begemann, Miriam Elbracht - Nature Reviews Disease Primers 2023 cited by 79

  10. Whole-genome sequencing of quartet families with autism spectrum disorder

    Authors: Ryan K. C. Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, Susan Walker, Kristiina Tammimies, Ny Hoang, Christina Chrysler, Thomas Nalpathamkalam, Giovanna Pellecchia, Yi Liu, Matthew J. Gazzellone, Lia D’Abate, Éric Deneault, Jennifer Howe, Richard S C Liu, Ann Thompson, Mehdi Zarrei, Mohammed Uddin, Christian R. Marshall, Robert H. Ring, Lonnie Zwaigenbaum, Peter N. Ray, Rosanna Weksberg, Melissa T. Carter, Bridget A. Fernandez, Wendy Roberts, Péter Szatmári, Stephen W. Scherer - Nature Medicine 2015 cited by 541

  11. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

    Authors: Kristiina Tammimies, Christian R. Marshall, Susan Walker, Gaganjot Kaur, Bhooma Thiruvahindrapuram, Anath C. Lionel, Ryan K. C. Yuen, Mohammed Uddin, Wendy Roberts, Rosanna Weksberg, Marc Woodbury‐Smith, Lonnie Zwaigenbaum, Evdokia Anagnostou, Zhuozhi Wang, John Wei, Jennifer Howe, Matthew J. Gazzellone, Lynette Lau, Wilson W. L. Sung, Kathy Whitten, Cathy Vardy, Victoria Crosbie, Brian Tsang, Lia D’Abate, Winnie W. L. Tong, Sandra Luscombe, Tyna Doyle, Melissa T. Carter, Péter Szatmári, Susan Stuckless, Daniele Merico, Dimitri J. Stavropoulos, Stephen W. Scherer, Bridget A. Fernandez - JAMA 2015 cited by 439

  12. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

    Authors: Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K. C. Yuen, Michael J. Szego, Robin Z. Hayeems, Randi Zlotnik Shaul, Michael Brudno, Marta Gîrdea, Brendan J. Frey, Babak Alipanahi, Sohnee Ahmed, Riyana Babul‐Hirji, Ramses Badilla Porras, Melissa T. Carter, Lauren Chad, Ayeshah Chaudhry, David Chitayat, Soghra Jougheh Doust, Cheryl Cytrynbaum, Lucie Dupuis, Resham Ejaz, Leona Fishman, Andrea Guerin, Bita Hashemi, Mayada Helal, Stacy Hewson, Michal Inbar‐Feigenberg, Pekka Kannus, Natalya Karp, Raymond H. Kim, Jonathan B. Kronick, Eriskay Liston, H. Robson MacDonald, Saadet Mercimek‐Mahmutoglu, Roberto Mendoza‐Londono, Enas Nasr, Graeme Nimmo, Nicole Parkinson, Nada Quercia, Julian Raiman, Maian Roifman, Andreas Schulze, Andrea Shugar, Cheryl Shuman, Pierre Sinajon, Komudi Siriwardena, Rosanna Weksberg, Grace Yoon, Chris Carew, Raith Erickson, Richard A. Leach, Robert J. Klein, Peter N. Ray, M. Stephen Meyn, Stephen W. Scherer, Ronald D. Cohn, Christian R. Marshall - npj Genomic Medicine 2016 cited by 377

  13. A large data resource of genomic copy number variation across neurodevelopmental disorders

    Authors: Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, Edwin J. Young, Edward J. Higginbotham, Jeffrey R. MacDonald, Brett Trost, Ada J. S. Chan, Susan Walker, Sylvia Lamoureux, Tracy Heung, Bahareh A. Mojarad, Barbara Kellam, Tara Paton, Muhammad Faheem, Karin Miron, Chao Lu, Ting Wang, Kozue Samler, Xiaolin Wang, Gregory Costain, Ny Hoang, Giovanna Pellecchia, John Wei, Rohan Patel, Bhooma Thiruvahindrapuram, Maian Roifman, Daniele Merico, Tara Goodale, Irene Drmic, Marsha Speevak, Jennifer Howe, Ryan K. C. Yuen, Janet A. Buchanan, Jacob Vorstman, Christian R. Marshall, Richard F. Wintle, David R. Rosenberg, Gregory L. Hanna, Marc Woodbury‐Smith, Cheryl Cytrynbaum, Lonnie Zwaigenbaum, Mayada Elsabbagh, Janine Flanagan, Bridget A. Fernandez, Melissa T. Carter, Péter Szatmári, Wendy Roberts, Jason P. Lerch, Xudong Liu, Rob Nicolson, Stelios Georgiades, Rosanna Weksberg, Paul Arnold, Anne S. Bassett, Jennifer Crosbie, Russell Schachar, Dimitri J. Stavropoulos, Evdokia Anagnostou, Stephen W. Scherer - npj Genomic Medicine 2019 cited by 201

  14. Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study

    Authors: Pedro Castelo‐Branco, Sanaa Choufani, Stephen C. Mack, Denis Gallagher, Cindy Zhang, Tatiana Lipman, Nataliya Zhukova, Erin J. Walker, Dianna C. Martin, Diana M. Merino, Jonathan D. Wasserman, Cynthia Elizabeth, Noa Alon, Libo Zhang, Volker Hovestadt, Marcel Kool, David Jones, Gelareh Zadeh, Sidney Croul, Cynthia Hawkins, Johann Hitzler, Jean Wang, Sylvain Baruchel, Peter B. Dirks, David Malkin, Stefan M. Pfister, Michael D. Taylor, Rosanna Weksberg, Uri Tabori - The Lancet Oncology 2013 cited by 253

  15. Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

    Authors: Muzammil Ahmad Khan, Muhammad Rafiq, Abdul Noor, Shobbir Hussain, Joana V. Flores, Verena Rupp, Akshita K. Vincent, Roland Malli, Ghazanfar Ali, Falak Sher Khan, Gisele E. Ishak, Dan Doherty, Rosanna Weksberg, Muhammad Ayub, Christian Windpassinger, Shahnaz Ibrahim, Michaela Frye, Muhammad Ansar, John B. Vincent - The American Journal of Human Genetics 2012 cited by 231

  16. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Authors: Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, M. Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T. R. M. Stumpel, Servi J.C. Stevens, Jeroen R. Vermeulen, Jeske van Harssel, Daniëlle G.M. Bosch, Koen L.I. van Gassen, Ellen van Binsbergen, Christa M. de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna Weksberg - The American Journal of Human Genetics 2021 cited by 71

  17. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

    Authors: Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek‐Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza‐Londono, Christian R. Marshall - European Journal of Human Genetics 2018 cited by 134

  18. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

    Authors: Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky, Michelle T. Siu, Michal Inbar‐Feigenberg, Roberto Mendoza‐Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu, Lucie Dupuis, Daria Grafodatskaya, William Reardon, Brigitte Gilbert‐Dussardier, Alain Verloès, Frédéric Bilan, Jeff M. Milunsky, Raveen Basran, Blake C. Papsin, Tracy Stockley, Stephen W. Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg - The American Journal of Human Genetics 2017 cited by 206

  19. Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1

    Authors: Daniel E. Martin‐Herranz, Erfan Aref‐Eshghi, Marc Jan Bonder, Thomas M. Stubbs, Sanaa Choufani, Rosanna Weksberg, Oliver Stegle, Bekim Sadiković, Wolf Reik, Janet M. Thornton - Genome biology 2019 cited by 125

  20. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

    Authors: María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin Barañano, Lauren C. Briere, Julie S. Cohen, William J. Craigen, Cheryl Cytrynbaum, Nina Ekhilevitch, Matthew J. Elrick, Ali Fatemi, Jamie L. Fraser, Renata C. Gallagher, Andrea Guerin, Devon Haynes, Frances A. High, Cara Inglese, Courtney Kiss, Mary Kay Koenig, Joel B. Krier, Kristin Lindstrom, Michael Marble, Hannah Meddaugh, Ellen Moran, Chantal F. Morel, Weiyi Mu, Eric Muller, Jessica Nance, Marvin R. Natowicz, Adam L. Numis, Bridget Ostrem, John Pappas, Carl E. Stafstrom, Haley Streff, David A. Sweetser, Marta Szybowska, Melissa Walker, Wei Wang, Karin Weiss, Rosanna Weksberg, Patricia G. Wheeler, Grace Yoon, Robert E. Kingston, Jane Juusola - The American Journal of Human Genetics 2020 cited by 110

  21. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    Authors: Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, Maria Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden - The American Journal of Human Genetics 2020 cited by 64

  22. Clinical features of 78 adults with 22q11 deletion syndrome

    Authors: Anne S. Bassett, Eva W.C. Chow, Janice Husted, Rosanna Weksberg, Oana Caluseriu, Gary D. Webb, Michael Α. Gatzoulis - American Journal of Medical Genetics Part A 2005 cited by 491

  23. SHANK1 Deletions in Males with Autism Spectrum Disorder

    Authors: Daisuke Sato, Anath C. Lionel, Claire S. Leblond, Aparna Prasad, Dalila Pinto, Susan Walker, Irene O’Connor, Carolyn Russell, Irene Drmic, Fadi F. Hamdan, Jacques L. Michaud, Volker Endris, Ralph Roeth, Richard Delorme, Guillaume Huguet, Marion Leboyer, Maria Råstam, Christopher Gillberg, Mark Lathrop, Dimitri J. Stavropoulos, Evdokia Anagnostou, Rosanna Weksberg, Éric Fombonne, Lonnie Zwaigenbaum, Bridget A. Fernandez, Wendy Roberts, Gudrun Rappold, Christian R. Marshall, Thomas Bourgeron, Péter Szatmári, Stephen W. Scherer - The American Journal of Human Genetics 2012 cited by 325

  24. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

    Authors: Daria Grafodatskaya, Barian HY Chung, Darci T. Butcher, Andrei L. Turinsky, Sarah J. Goodman, Sana Choufani, Y. Ann Chen, Youliang Lou, Chunhua Zhao, Rageen Rajendram, Fatima Abidi, Cindy Skinner, James Stavropoulos, Carolyn A. Bondy, Jill Hamilton, Shoshana J. Wodak, Stephen W. Scherer, Charles E. Schwartz, Rosanna Weksberg - BMC Medical Genomics 2013 cited by 107