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R

Rosanna Weksberg

research institute

80H-index
463Paper Count
2.8WCitation Count
Published Papers 132
Publication Date
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Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation
errEuropean Journal of Human Genetics
IF4.6
err2026-07-29
err0
PREAI
errAnthony Chen; Manav Jain; Danielle Baribeau; William T. Gibson; Matthew A. Deardorff; Fowzan S. Alkuraya; Juan Dario Ortigoza-Escobar; Graeme Nimmo; Stephen W. Scherer; Sanaa Choufani; Sarah J. Goodman; Rosanna Weksberg
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The “Route Cause” of Methotrexate-Induced Brain Structure Changes in a Juvenile Mouse Model: Comparison of Systemic and CNS-Targeted Chemotherapy
errNeuroToxicology
IF3.9
err2025-12-11
err0
PREAI
errSun Eui Choi; Tiffany Ayoub; Gail Lee; Anne L. Wheeler; Sharon L. Guger; Rosanna Weksberg; Shinya Ito; Russell J. Schachar; Johann Hitzler; Brian J. Nieman
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errSave
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-12-01
err0
errOAAI
errBedon, Ana Acosta; Akbari, Vahid; Rothstein, Ralph; Inman, Alexandra; Bhalla, Sanjiv; An, Jianghong; Friedman, Jan M.; Weksberg, Rosanna; Boerkoel, Cornelius; Jones, Steven J. M.; Gibson, William T.
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errSave
Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis
errClinical Genetics
IF2.3
err2025-11-01
err0
PREAI
errHildonen, Mathis; Mariani, Luca; Dalsberg, Jonas; Bak, Mads; Weksberg, Rosanna; Choufani, Sanaa; Tumer, Zeynep
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errSave
DNA methylation alterations in acute lymphoblastic leukemia survivors with late neurocognitive deficits
errLeukemia
IF13.4
err2025-10-17
err0
errOAAI
errSarah J. Goodman; Darci T. Butcher; Sharon L. Guger; Eric Diehl; Jack Brzezinski; Brenda Spiegler; Brian J. Nieman; Prajkta Kallurkar; Aubrée Boulet Craig; Maja Krajinovic; Julie Laniel; Caroline Laverdière; Daniel Sinnett; Sarah Lippé; Andrei Turinsky; Mary Shago; Lisa J. Strug; Shinya Ito; Johann K. Hitzler; Russell Schachar; Rosanna Weksberg
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errSave
Il-6 knockout reduces doxorubicin-induced toxicity in the developing mouse brain
errbrain behavior and immunity
IF0
err2025-06-28
err0
PREAI
errJonas Yeung; Henry Quach; Amy P. Wong; Anne L. Wheeler; Rosanna Weksberg; Sharon L. Guger; Russell J. Schachar; Shinya Ito; Johann Hitzler; Brian J. Nieman
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errSave
A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome
errCLINICAL GENETICS
IF2.3
err2025-04-30
err0
errOAAI
errMaura Mingoia; Alessandra Meloni; Silvia Sedda; Sanaa Choufani; Isadora Asunis; Giorgia Gemma; Antonio Ammendola; Arteen Torabi-Marashi; Eleonora di Venere; Gabriella Maria Squeo; Vincenzo Rallo; Maria Giuseppina Marini; Paolo Moi; Salvatore Savasta; Rosanna Weksberg; Giuseppe Merla; Andrea Angius
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errSave
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-11-13
err0
PREAI
errAkbari, Vahid; Dada, Sarah; Shen, Yaoqing; Dixon, Katherine; Hejla, Duha; Galbraith, Andrew; Choufani, Sanaa; Weksberg, Rosanna; Boerkoel, Cornelius F.; Stewart, Laura; Gibson, William T.; Jones, Steven J. M.
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errSave
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells(vol 32, 324, 2024 )
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-02-15
err0
errOAAI
errAwamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander J. M.; Kasri, Nael Nadif; Boronat, Susana; Ibanez-Mico, Salvador; Herraiz, Laura Cuesta; Ferrer, Irene; Carrascal, Antonio Martinez; Perez-Jurado, Luis A.; Lain, Gemma Aznar; Ortigoza-Escobar, Juan Dario; de Vries, Bert B. A.; Koolen, David A.; Weksberg, Rosanna
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errSave
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
errGENETICS IN MEDICINE
IF6.2
err2024-02-01
err0
PREAI
errHartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin
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errSave
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-01-29
err3
errOAAI
errAwamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander J. M.; Khadri, Nael Nadif; Boronat, Susana; Ibanez-Mico, Salvador; Herraiz, Laura Cuesta; Ferrer, Irene; Carrascal, Antonio Martinez; Perez-Jurado, Luis A.; Lain, Gemma Aznar; Ortigoza-Escobar, Juan Dario; de Vries, Bert B. A.; Koolen, David A.; Weksberg, Rosanna
errShare
errSave
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-11-01
err2
errOAAI
errNil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.
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errSave
Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model
errCLINICAL EPIGENETICS
IF4.4
err2023-10-27
err1
errOAAI
errGoodman, Sarah Jessica; Luperchio, Teresa Romeo; Ellegood, Jacob; Chater-Diehl, Eric; Lerch, Jason P.; Bjornsson, Hans Tomas; Weksberg, Rosanna
errShare
errSave
Imprinting disorders
errNATURE REVIEWS DISEASE PRIMERS
IF60.6
err2023-06-29
err22
PREAI
errEggermann, Thomas; Monk, David; de Nanclares, Guiomar Perez; Kagami, Masayo; Giabicani, Eloise; Riccio, Andrea; Tumer, Zeynep; Kalish, Jennifer M.; Tauber, Maithe; Duis, Jessica; Weksberg, Rosanna; Maher, Eamonn R.; Begemann, Matthias; Elbracht, Miriam
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errSave
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation
errJCI INSIGHT
IF6.1
err2023-05-22
err6
errOAAI
errLin, Isabella; Wei, Angela; Awamleh, Zain; Singh, Meghna; Ning, Aileen; Herrera, Analeyla; Russell, Bianca E.; Weksberg, Rosanna; Arboleda, Valerie A.; REACH Biobank and Registry
errShare
errSave
Assessment of a multisite standardized biospecimen collection protocol for immune phenotyping in neurodevelopmental disorders
errSCIENTIFIC REPORTS
IF3.9
err2023-04-28
err0
errOAAI
errCleary, Shane; Teskey, Grace; Mathews, Craig; Sachachar, Russell J.; Nicolson, Robert; Weksberg, Rosanna; Anagnostou, Evdokia; Bowdish, Dawn M. E.; Foster, Jane A.
errShare
errSave
DNA methylation signatures for chromatinopathies: current challenges and future applications
errHUMAN GENETICS
IF3.6
err2023-04-06
err9
errOAAI
errAwamleh, Zain; Goodman, Sarah; Choufani, Sanaa; Weksberg, Rosanna
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errSave
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications
errBRAIN
IF11.7
err2022-12-08
err9
errOAAI
errDeshwar, Ashish R.; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P.; Noche, Ramil; Walker, Suzi; Scherer, Stephen W.; Mahida, Sonal; Elitt, Christopher M.; Nicolas, Gael; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M.; Drayson, Lucy; Baranano, Kristin W.; Chassevent, Anna; Agre, Katie; Letard, Pascaline; Bilan, Frederic; Le Guyader, Gwenael; Laquerriere, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L. P.; Blaser, Susan; Dowling, James J.; Weksberg, Rosanna
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errSave
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome
errHUMAN MOLECULAR GENETICS
IF3.2
err2022-11-28
err14
errOAAI
errAwamleh, Zain; Choufani, Sanaa; Cytrynbaum, Cheryl; Alkuraya, Fowzan S.; Scherer, Stephen; Fernandes, Sofia; Rosas, Catarina; Louro, Pedro; Dias, Patricia; Neves, Mariana Tomasio; Sousa, Sergio B.; Weksberg, Rosanna
errShare
errSave
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition
errACTA NEUROPATHOLOGICA
IF9.3
err2022-07-17
err12
errOAAI
errVolpatti, Jonathan R.; Ghahramani-Seno, Mehdi M.; Mansat, Melanie; Sabha, Nesrin; Sarikaya, Ege; Goodman, Sarah J.; Chater-Diehl, Eric; Celik, Alper; Pannia, Emanuela; Froment, Carine; Combes-Soia, Lucie; Maani, Nika; Yuki, Kyoko E.; Chicanne, Gaetan; Uuskula-Reimand, Liis; Monis, Simon; Alvi, Sana Akhtar; Genetti, Casie A.; Payrastre, Bernard; Beggs, Alan H.; Bonnemann, Carsten G.; Muntoni, Francesco; Wilson, Michael D.; Weksberg, Rosanna; Viaud, Julien; Dowling, James J.
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Research Directions

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