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S

Sanaa Choufani

research institute

42H-index
211Paper Count
7.1KCitation Count
Published Papers 52
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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Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures
errAmerican Journal of Human Genetics
IF8.1
err2026-07-23
err0
PREAI
errNikola Reko; Arteen Torabi-Marashi; Prajkta Kallurkar; Sarah J. Goodman; Zain Awamleh; Andrei L. Turinsky; Daria Grafodatskaya; Bianca E. Russell; Karen Chong; Jung Min Ko; Ebba Alkhunaizi; David Chitayat; Elena Greenfeld; Stephen W. Scherer; Elizabeth McCready; Rosanna Weksberg; Sanaa Choufani
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
erramerican journal of human genetics
IF0
err2025-08-07
err0
errOAAI
errSanaa Choufani; Vanda McNiven; Cheryl Cytrynbaum; Maryam Jangjoo; Margaret P. Adam; Hans T. Bjornsson; Jacqueline Harris; David A. Dyment; Gail E. Graham; Marjan M. Nezarati; Ritu B. Aul; Claudia Castiglioni; Jeroen Breckpot; Koen Devriendt; Helen Stewart; Benito Banos-Pinero; Sarju Mehta; Richard Sandford; Carolyn Dunn; Remi Mathevet; Lionel van Maldergem; Juliette Piard; Elise Brischoux-Boucher; Antonio Vitobello; Laurence Faivre; Marie Bournez; Frederic Tran-Mau; Isabelle Maystadt; Alberto Fernández-Jaén; Sara Alvarez; Irene Díez García-Prieto; Fowzan S. Alkuraya; Hessa S. Alsaif; Zuhair Rahbeeni; Karen El-Akouri; Mariam Al-Mureikhi; Rebecca C. Spillmann; Vandana Shashi; Pedro A. Sanchez-Lara; John M. Graham; Amy Roberts; Odelia Chorin; Gilad D. Evrony; Minna Kraatari-Tiri; Tracy Dudding-Byth; Anamaria Richardson; David Hunt; Laura Hamilton; Sarah Dyack; Bryce A. Mendelsohn; Nicolás Rodríguez; Rosario Sánchez-Martínez; Jair Tenorio-Castaño; Julián Nevado; Pablo Lapunzina; Pilar Tirado; Maria-Teresa Carminho Amaro Rodrigues; Lina Quteineh; A. Micheil Innes; Antonie D. Kline; P.Y. Billie Au; Rosanna Weksberg
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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics
errEBIOMEDICINE
IF10.8
err2025-05-01
err0
PREAI
errMak, Christopher C. Y.; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K.; Pisan, Elise; Chui, Martin M. C.; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C.; Sanchez-Lara, Pedro A.; Bombei, Hannah M.; Bernat, John A.; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A.; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clemence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J.; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E.; Gordon, Christopher T.; Doherty, Dan; Krawitz, Peter M.; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H. Y.
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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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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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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-08-01
err4
PREAI
errRots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth
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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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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
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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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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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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
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-10-01
err17
errOAAI
errChoufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna
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DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2022-04-01
err16
errOAAI
errAwamleh, Zain; Chater-Diehl, Eric; Choufani, Sanaa; Wei, Elizabeth; Kianmahd, Rebecca R.; Yu, Anna; Chad, Lauren; Costain, Gregory; Tan, Wen-Hann; Scherer, Stephen W.; Arboleda, Valerie A.; Russell, Bianca E.; Weksberg, Rosanna
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Inhibition of DNA methylation during chronic obstructive bladder disease (COBD) improves function, pathology and expression
errSCIENTIFIC REPORTS
IF3.9
err2021-08-27
err5
errOAAI
errSidler, Martin; Aitken, K. J.; Jiang, Jia-Xin; Yadav, Priyank; Lloyd, Erin; Ibrahim, Malak; Choufani, Sanaa; Weksberg, Rosanna; Bagli, Darius
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Anatomy of DNA methylation signatures: Emerging insights and applications
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2021-08-01
err39
errOAAI
errChater-Diehl, Eric; Goodman, Sarah J.; Cytrynbaum, Cheryl; Turinsky, Andrei L.; Choufani, Sanaa; Weksberg, Rosanna
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2021-06-01
err45
errOAAI
errRots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna
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Genomic imbalances in the placenta are associated with poor fetal growth
errMOLECULAR MEDICINE
IF6.4
err2021-01-07
err18
errOAAI
errDel Gobbo, Giulia F.; Yin, Yue; Choufani, Sanaa; Butcher, Emma A.; Wei, John; Rajcan-Separovic, Evica; Bos, Hayley; von Dadelszen, Peter; Weksberg, Rosanna; Robinson, Wendy P.; Yuen, Ryan K. C.
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Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses
errBRITISH JOURNAL OF CANCER
IF6.8
err2020-10-05
err17
errOAAI
errBrzezinski, Jack; Choufani, Sanaa; Romao, Rodrigo; Shuman, Cheryl; Chen, Haiying; Cunanan, Joanna; Bagli, Darius; Grant, Ronald; Lorenzo, Armando; Weksberg, Rosanna
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EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases
errHUMAN MUTATION
IF3.7
err2020-07-15
err24
errOAAI
errTurinsky, Andrei L.; Choufani, Sanaa; Lu, Kevin; Liu, Da; Mashouri, Pouria; Min, Daniel; Weksberg, Rosanna; Brudno, Michael
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Research Directions

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Co-authors
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