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O

Oana Caluseriu

Faculty of Medicine and Dentistry

25H-index
81Paper Count
3.6KCitation Count
Published Papers 42
Publication Date
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Further characterization of the BRSK2-associated neurodevelopmental disorder
errEuropean Journal of Human Genetics
IF4.6
err2026-07-27
err0
errOAAI
errPalak Singhal; Tzung-Chien Hsieh; Nadja Ehmke; Elena Bacchelli; Marta Viggiano; Elena Maestrini; Paola Visconti; Annio Posar; Maria Cristina Scaduto; Alessandro Vaisfeld; Carey Ronspies; Sarah Burke; Joana Rosmaninho Salgado; Joaquim Sá; Sara Ribeiro; Amelle Shillington; Anjali Aggarwal; Christina Dailey; Carol Saunders; Florencia Del Viso; Chaya N. Murali; Melissa MacPherson; Oana Caluseriu; Alain Verloes; Jonathan Levy; Yline Capri; Hannah S. Kemmer; Manuel Holtgrewe; Philip M. Boone; Lance Rodan; Georgia Vasileiou; Melissa Pauly; André Reis; Isabella Herman; Ivy Johnson; Himanshu Goel; Ana Maria Rodriguez Barreto; Flavio Faletra; Catia Mio; Mona L. Essawi; Heba A. Hassan; Wessam E. Sharaf-Eldin; Nirmeen Kishk; Giuseppe Donato Mangano; Renata Mangano; Andrea K. Shields; Judith D. Ranells; Trine Bjørg Hammer; Clara Velmans; Christian Netzer; Nora Winnerling; Konstantinos Kolokotronis; Benjamin Seidl; Anita Rauch; Alberto Fernandez-Jaen; Aboulfazl Rad; Gabriela Oprea; Paskal Cullufi; Sonila Tomori; Claire Beneteau; Marine Legendre; Caroline Rooryck; Hannah Klinkhammer; Tobias B. Haack; Amjad Khan; Johanna Kick; Deborah Bartholdi; Dominique Braun; Erin E. Baldwin; David H. Viskochil; Lorenzo D. Botto; Anna LaGroon; Emily Black; Kameryn M. Butler; Emmanuelle Ranza; Manon Macherel; Vincent Desportes; Mathilde Pujalte; Louis Januel; Boris Keren; Cyril Mignot; Madeleine Harion; Maartje L. E. Voors; Charlotte W. Ockeloen; Javier Porta-Pelayo; Bernt Popp; Peter Krawitz; Heinrich Sticht; Anne Gregor; Christiane Zweier
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Further phenotypical delineation of DLG3-related neurodevelopmental disorders
errEuropean Journal of Human Genetics
IF4.6
err2025-09-22
err0
errOAAI
errMarlène Malbos; Thierry Gautier; Amelle Shillington; Estelle Colin; Xavier Le Guillou; Oana Caluseriu; Bertrand Isidor; Benjamin Cogné; Cyril Mignot; Boris Keren; Sacha Weber; Clémence Jacquin; Tracy Dudding; Daniel Calame; Juliette Piard; Jonathan Levy; Xenia Latypova; Alain Verloes; Tanguy Niclass; Aurélia Jacquette; Lori White; Marie-Pierre Moizard; Hélène Dollfus; Sébastien Moutton; Julian Delanne; Caroline Racine; Quentin Thomas; Anne-Sophie Denommé-Pichon; Frédéric Tran Mau-Them; Ange-Line Bruel; Hana Safraou; Christophe Philippe; Yannis Duffourd; Christel Thauvin-Robinet; Jérôme Govin; Antonio Vitobello; Laurence Faivre
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Role of CAMK2D in neurodevelopment and associated conditions
erramerican journal of human genetics
IF0
err2025-08-11
err0
PREAI
errPomme M.F. Rigter; Charlotte de Konink; Matthew J. Dunn; Martina Proietti Onori; Jennifer B. Humberson; Matthew Thomas; Caitlin Barnes; Carlos E. Prada; K. Nicole Weaver; Thomas D. Ryan; Oana Caluseriu; Jennifer Conway; Emily Calamaro; Chin-To Fong; Wim Wuyts; Marije Meuwissen; Eva Hordijk; Carsten N. Jonkers; Lucas Anderson; Berfin Yuseinova; Sarah Polonia; Diane Beysen; Zornitza Stark; Elena Savva; Cathryn Poulton; Fiona McKenzie; Elizabeth Bhoj; Caleb P. Bupp; Stéphane Bézieau; Sandra Mercier; Amy Blevins; Ingrid M. Wentzensen; Fan Xia; Jill A. Rosenfeld; Tzung-Chien Hsieh; Peter M. Krawitz; Miriam Elbracht; Danielle C.M. Veenma; Howard Schulman; Margaret M. Stratton; Sébastien Küry; Geeske M. van Woerden
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Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review
errHuman Mutation
IF3.7
err2025-06-12
err0
errOAAI
errAnastasia Ambrose; Oana Caluseriu; Saadet Mercimek-Andrews
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Mainstreaming of clinical genetic testing: A conceptual framework
errGenetics in Medicine
IF6.2
err2025-05-22
err0
errOAAI
errMichael P. Mackley; Julie Richer; Andrea Guerin; Oana Caluseriu; Linlea Armstrong; Katherine A. Blood; Francois Bernier; Christie Boswell-Patterson; Marisa Chard; Gregory Costain; David Dyment; Alison Eaton; Hanna Faghfoury; Patrick Frosk; Meredith K. Gillespie; Elaine S. Goh; Robin Z. Hayeems; Bita Hashemi; A. Micheil Innes; Molly Jackson; Kym M. Boycott
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Multicenter Study of Primary Fetal Cardiomyopathy: Clinical Outcomes And Genetic Etiologies, A Fetal Heart Society Research Collaborative Study
errCIRCULATION
IF38.6
err2024-11-12
err0
PREAI
errBurande, Astha; Hornberger, Lisa; Caluseriu, Oana; Peyvandi, Shabnam; Bolin, Elijah; Cavalle-Garrido, Tiscar; Chandra, Sue; Cnota, James; Conway, Jennifer; Creighton, Sara; Cuneo, Bettina; Despres, Marlayna; Doan, Tam; Doucet, J. Scott; Grenier, Michelle; Hogan, Whitnee; Kaplinski, Michelle; Bijji, Mahima K.; Kavanaugh-Mchugh, Ann; Keller, Sam; Kwon, Elena; Lipshultz, Steven; Majeed, Amara; Mansukhani, Gitanjali; McIntosh, Amanda; McVadon, Deani; Michelfelder, Erik; Miller, Michelle; Milligan, Caitlin; Mital, Seema; Gil, Adriana Montes; Moon-Grady, Anita; Mulla, Neda; Patel, Sheetal; Pruitt, Cathleen; Qasim, Amna; Rajagopal, Hari; Ro, Sanghee; Schidlow, David; Schneider, Kristin; Srinivasan, Ranjini; Sutton, Jennifer; Taylor, Carolyn; McBrien, Angela
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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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Role of CAMK2D in neurodevelopment and associated conditions
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-02-01
err7
errOAAI
errRigter, Pomme M. F.; de Konink, Charlotte; Dunn, Matthew J.; Onori, Martina Proietti; Humberson, Jennifer B.; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E.; Weaver, K. Nicole; Ryan, Thomas D.; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N.; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P.; Bezieau, Stephane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M.; Xia, Fan; Rosenfeld, Jill A.; Hsieh, Tzung-Chien; Krawitz, Peter M.; Elbracht, Miriam; Veenma, Danielle C. M.; Schulman, Howard; Stratton, Margaret M.; Kury, Sebastien; van Woerden, Geeske M.
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A revised nomenclature for the lemur family of protein kinases
errCOMMUNICATIONS BIOLOGY
IF5.1
err2024-01-08
err5
errOAAI
errMorotz, Gabor M.; Bradbury, Neil A.; Caluseriu, Oana; Hisanaga, Shin-ichi; Miller, Christopher C. J.; Swiatecka-Urban, Agnieszka; Lenz, Heinz-Josef; Moss, Stephen J.; Giamas, Georgios
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X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells
errBONE
IF3.6
err2023-11-01
err4
errOAAI
errGrimbly, Chelsey; Ludwig, Karissa; Wu, Zenghui; Caluseriu, Oana; Rosolowsky, Elizabeth; Alexander, R. Todd; Ward, Leanne M.; Rauch, Frank
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-08-14
err2
PREAI
errSzakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Genevieve, David; Rouxel, Flavien; Morin, Denis; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H.; Agre, Katherine E.; Jacquemont, Sebastien; Khadije, Jizi; Giltay, Jacques; van Gassen, Koen; Mero, Gabriella; Gerkes, Erica; Van Bon, Bregje W.; Rinne, Tuula; Pfundt, Rolph; Brunner, Han G.; Caluseriu, Oana; Grasshoff, Ute; Kehrer, Martin; Haack, Tobias B.; Khelifa, Melik Malek; Bergmann, Anke Katharina; Cueto-Gonzalez, Anna Maria; Martorell, Ariadna Campos; Ramachandrappa, Shwetha; Sawyer, Lindsey B.; Fasel, Pascale; Braun, Dominique; Isis, Atallah; Superti-Furga, Andrea; McNiven, Vanda; Chitayat, David; Ahmed, Syed Anas; Brennenstuhl, Heiko; Schwaibolf, Eva M. C.; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi J. C.
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De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-05-01
err11
errOAAI
errTimberlake, Andrew T.; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M.; Stiegler, Amy L.; Boggon, Titus J.; Sanyoura, May; Morrow, Michelle; Wenger, Tara L.; Fernandes, Erica M.; Caluseriu, Oana; Persing, John A.; Jin, Sheng Chih; Lifton, Richard P.; Kahle, Kristopher T.; Kruszka, Paul
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ARF1-related disorder: phenotypic and molecular spectrum
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-04-25
err5
errOAAI
errAgathe, Jean-Madeleine de Sainte; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Celine; Alkuraya, Fowzan S.; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L.; Bryant, Emily M.; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M.; Friedman, Jennifer R.; Iascone, Maria; Cereda, Anna; Miao, Terence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N.; Owens, Joshua W.; Husami, Ammar; Chaudhari, Bimal P.; Stone, Brandon S.; Burns, Katie; Li, Rachel; de Lange, Iris M.; Biehler, Margaux; Ginglinger, Emmanuelle; Gerard, Benedicte; Stottmann, Rolf W.; Trimouille, Aurelien
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Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-01-05
err3
PREAI
errRizvi, Midhat; Truong, Tina K.; Zhou, Janet; Batta, Manav; Moran, Ellen S.; Pappas, John; Chu, Mary Lynn; Caluseriu, Oana; Evrony, Gilad D.; Leslie, Elaine M.; Cordat, Emmanuelle
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Clinical presentation, genetic etiology and outcome associated with fetal cardiomyopathy: comparison of two eras
errULTRASOUND IN OBSTETRICS & GYNECOLOGY
IF6.3
err2022-03-03
err3
PREAI
errTrakmulkichkarn, T.; Ghadiry-Tavi, R.; Fruitman, D.; Niederhoffer, K. Y.; Caluseriu, O.; Lauzon, J. L.; Wewala, G.; Hornberger, L. K.; Urschel, S.; Conway, J.; Mcbrien, A.
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Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans
errGENETICS IN MEDICINE
IF6.2
err2022-02-01
err6
errOAAI
errQi, Cai; Feng, Irena; Costa, Ana Rita; Pinto-Costa, Rita; Neil, Jennifer E.; Caluseriu, Oana; Li, Dong; Ganetzky, Rebecca D.; Brasch-Andersen, Charlotte; Fagerberg, Christina; Hansen, Lars Kjaersgaard; Bupp, Caleb; Muraresku, Colleen Clarke; Ruan, Xiangbin; Kang, Bowei; Hu, Kaining; Zhong, Rong; Brites, Pedro; Bhoj, Elizabeth J.; Hill, Robert Sean; Falk, Marni J.; Hakonarson, Hakon; Kahle, Kristopher T.; Sousa, Monica M.; Walsh, Christopher A.; Zhang, Xiaochang
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Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2021-09-20
err27
errOAAI
errLazier, Joanna; Hartley, Taila; Brock, Jo-Ann; Caluseriu, Oana; Chitayat, David; Laberge, Anne-Marie; Langlois, Sylvie; Lauzon, Julie; Nelson, Tanya N.; Parboosingh, Jillian; Stavropoulos, Dimitri J.; Boycott, Kym; Armour, Christine M.
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The interaction of the severe acute respiratory syndrome coronavirus 2 spike protein with drug-inhibited angiotensin converting enzyme 2 studied by molecular dynamics simulation
errJOURNAL OF HYPERTENSION
IF4.1
err2021-08-01
err11
errOAAI
errNami, Babak; Ghanaeian, Avrin; Ghanaeian, Kasra; Houri, Rozhin; Nami, Negin; Ghasemi-Dizgah, Armin; Caluseriu, Oana
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
errGENETICS IN MEDICINE
IF6.2
err2021-07-01
err11
errOAAI
errChowdhury, Fuad; Wang, Lei; Al-Raqad, Mohammed; Amor, David J.; Baxova, Alice; Bendova, Sarka; Biamino, Elisa; Brusco, Alfredo; Caluseriu, Oana; Cox, Nancy J.; Froukh, Tawfiq; Gunay-Aygun, Meral; Hancarova, Miroslava; Haynes, Devon; Heide, Solveig; Hoganson, George; Kaname, Tadashi; Keren, Boris; Kosaki, Kenjiro; Kubota, Kazuo; Lemons, Jennifer M.; Magrina, Maria A.; Mark, Paul R.; McDonald, Marie T.; Montgomery, Sarah; Morley, Gina M.; Ohnishi, Hidenori; Okamoto, Nobuhiko; Rodriguez-Buritica, David; Rump, Patrick; Sedlacek, Zdenek; Schatz, Krista; Streff, Haley; Uehara, Tomoko; Walia, Jagdeep S.; Wheeler, Patricia G.; Wiesener, Antje; Zweier, Christiane; Kawakami, Koichi; Wentzensen, Ingrid M.; Lalani, Seema R.; Siu, Victoria M.; Bi, Weimin; Balci, Tugce B.
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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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Research Directions

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Co-authors
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