arrow
Back
G

Gabriela Oprea

arcensus diagnostics

9H-index
38Paper Count
978Citation Count
Published Papers 22
Publication Date
Further characterization of the BRSK2-associated neurodevelopmental disorder
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
errShare
errSave
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
err2026-05-30
err0
errOAAI
errMicol Falabella; Sandra Lopez Calcerrada; Jana Aref; Jiaze Gao; William L. Macken; Chiara Pizzamiglio; Renata Kabiljo; Anna Lucia Francavilla; Pauline Gaignard; Antoine Pouzet; Jonathan Levy; Giulia Barcia; Jamie K. Leighton; Efstathia Chronopoulou; Germaine Pierre; Riza Köksal Özgül; Ali Dursun; Rebecca Halligan; Helen Mundy; Javeria Raza Alvi; Tipu Sultan; William James Craigen; Lisa Emrick; Jill A. Rosenfeld; Gehad Elmakkawy; JiHye Kim; Joseph J. Gleeson; Aboulfazl Rad; Gabriela Oprea; Maqbool Hussain; Khalil Ur Rehman; Sadia Riaz; Robert W. Taylor; Vincent Procaccio; Maha S. Zaki; Erika Fernandez-Vizarra; Ciro Leonardo Pierri; Michael G. Hanna; Henry Houlden; Reza Maroofian; Cristina Ugalde; Jan-Willem Taanman; Robert D. S. Pitceathly
errShare
errSave
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy
err2026-03-29
err0
PREAI
errStephany El-Hayek; Aboulfazl Rad; Sahar Sedighzadeh; Gozde Yesil; Sandra Sabbagh; Mohammad Shahrooei; Pratibha Nair; Asuman Gedikbaşı; Sami Bizzari; Murtadha Ali; Eliane Chouery; Cybel Mehawej; Ayca Aslanger; Pejman Rohani; Meisam Sharifzadeh; Sinan Akbas; Javad Mohammadi-asl; Mahdiyeh Behnam; Sandra Corbani; Volkan Karaman; Uluç Yiş; Yavuz Oktay; Ipek Polat; J Andoni Urtizberea; Henry Houlden; Reza Maroofian; Gabriela Oprea; Andre Megarbane
errShare
errSave
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
errShare
errSave
Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants
err2025-10-15
err0
errOAAI
errDaniel Owrang; Aboulfazl Rad; Constantin Cretu; Sheng-Jia Lin; Hafiz Muhammad Mustafa; Kevin Huang; Nadia Waheed; Maqbool Hussain; Sadia Riaz; Julia Preobraschenski; Gaurav K Varshney; Gabriela Oprea; Barbara Vona
errShare
errSave
<i>ADAT3</i> variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
errBrain
IF11.7
err2025-03-22
err0
errOAAI
errJordi Del-Pozo-Rodriguez; Peggy Tilly; Romain Lecat; Hugo Rolando Vaca; Laureline Mosser; Elena Brivio; Till Balla; Marina Vitoria Gomes; Elizabeth Ramos-Morales; Noémie Schwaller; Thalia Salinas-Giegé; Grace VanNoy; Eleina M England; Alysia Kern Lovgren; Melanie O’Leary; Maya Chopra; Naomi Meave Ojeda; Mehran Beiraghi Toosi; Atieh Eslahi; Masoome Alerasool; Majid Mojarrad; Lynn S Pais; Rebecca C Yeh; Dustin L Gable; Mais O Hashem; Firdous Abdulwahab; Muath Rakiz Alqurashi; Loai Z Sbeih; Omar Abu Adas Blanco; Renad Abu Khater; Gabriela Oprea; Aboulfazl Rad; Hamad Alzaidan; Hesham Aldhalaan; Ehab Tous; Afaf Alsagheir; Mohammed Alowain; Abdullah Tamim; Khowlah Alfayez; Amal Alhashem; Aisha Alnuzha; Mona Kamel; Bashayer S Al-Awam; Walaa Elnaggar; Nihal Almenabawy; Anne O'Donnell-Luria; Jennifer E Neil; Joseph G Gleeson; Christopher A Walsh; Fowzan S Alkuraya; Lama AlAbdi; Nour Elkhateeb; Laila Selim; Siddharth Srivastava; Danny D Nedialkova; Laurence Drouard; Christophe Romier; Efil Bayam; Juliette D Godin
errShare
errSave
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism
err2024-12-12
err0
errOAAI
errRahman, Fatima; Marsili, Luisa; Pasquetti, Domizia; Rad, Aboulfazl; Anjum, Muhammad Nadeem; Oprea, Gabriela; Cheema, Huma Arshad; Vona, Barbara; Alves, Cesar Augusto; Houlden, Henry; Maqbool, Shazia; Efthymiou, Stephanie; Smol, Thomas; Maroofian, Reza
errShare
errSave
Loss of tissue-type plasminogen activator causes multiple developmental anomalies
err2024-11-16
err0
errOAAI
errUguen, Kevin; Frey, Tanja; Muthaffar, Osama; Decarie, Jean-Claude; Ameziane, Najim; Boissel, Sarah; Baradaran-Heravi, Yalda; Rauch, Anita; Oprea, Gabriela; Rad, Aboulfazl; Steindl, Katharina; Michaud, Jacques L.
errShare
errSave
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
err2024-01-01
err3
errOAAI
errSalpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Cali, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Zand, Farhad Khadivi; Toosi, Mehran Beiraghi; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Alkuraya, Fowzan S.; Jepson, James E. C.; Houlden, Henry
errShare
errSave
Secondary findings in a large Pakistani cohort tested with whole genome sequencing
err2023-01-12
err4
errOAAI
errSkrahin, Aliaksandr; Cheema, Huma Arshad; Hussain, Maqbool; Rana, Nuzhat Noureen; Rehman, Khalil Ur; Kumar, Raman; Oprea, Gabriela; Ameziane, Najim; Rolfs, Arndt; Skrahina, Volha
errShare
errSave
Spleen Stiffness as Predictor of Esophageal Varices in Cirrhosis of Different Etiologies
err2019-11-07
err27
errOAAI
errFierbinteanu-Braticevici, Carmen; Tribus, Laura; Peagu, Razvan; Petrisor, Ana; Baicus, Cristian; Cretoiu, Dragos; Pasternak, Artur; Oprea, Gabriela; Purcareanu, Adina; Moldoveanu, Alexandru C.
errShare
errSave
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
err2019-07-01
err38
errOAAI
errDulovic-Mahlow, Marija; Trinh, Joanne; Kandaswamy, Krishna Kumar; Braathen, Geir Julius; Di Donato, Nataliya; Rahikkala, Elisa; Beblo, Skadi; Werber, Martin; Krajka, Victor; Busk, Oyvind L.; Baumann, Hauke; Al-Sannaa, Nouriya Abbas; Hinrichs, Frauke; Affan, Rabea; Navot, Nir; Al Balwi, Mohammed A.; Oprea, Gabriela; Holla, Oystein L.; Weiss, Maximilian E. R.; Jamra, Rami A.; Kahlert, Anne-Karin; Kishore, Shivendra; Tveten, Kristian; Vos, Melissa; Rolfs, Arndt; Lohmann, Katja
errShare
errSave
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
err2019-06-25
err39
errOAAI
errTrinh, Joanne; Kandaswamy, Krishna Kumar; Werber, Martin; Weiss, Maximilian E. R.; Oprea, Gabriela; Kishore, Shivendra; Lohmann, Katja; Rolfs, Arndt
errShare
errSave
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population
err2019-01-01
err38
errOAAI
errBauer, Peter; Kandaswamy, Krishna Kumar; Weiss, Maximilian E. R.; Paknia, Omid; Werber, Martin; Bertoli-Avella, Aida M.; Yueksel, Zafer; Bochinska, Malgorzata; Oprea, Gabriela E.; Kishore, Shivendra; Weckesser, Volkmar; Karges, Ellen; Rolfs, Arndt
errShare
errSave
Unmet needs in human genomic variant interpretation
err2018-03-01
err3
errOAAI
errBauer, Peter; Karges, Ellen; Oprea, Gabriela; Rolfs, Arndt
errShare
errSave
Biochemical and genetic characteristics of the largest worldwide Fabry cohort reported to present
err2018-02-01
err0
PREAI
errCozma, Claudia; Iurascu, Marius I.; Oprea, Gabriela; Lukas, Jan; Zielke, Susanne; Rolfs, Arndt
errShare
errSave
Lyso-SM-509 as highly sensitive biomarker for Niemann-Pick disease types A/B and C: Three years experience
err2018-02-01
err1
PREAI
errCozma, Claudia; Iurascu, Marius I.; Oprea, Gabriela; Lukas, Jan; Zielke, Susanne; Giese, Anne-Katrin; Rolfs, Arndt
errShare
errSave
THE ROLE OF NONINVASIVE BREATH TESTS WITH 13C-METHACETIN AND 13C-OCTANOATE IN ASSESSING THE DIAGNOSIS AND SEVERITY OF NONALCOHOLIC STEATOHEPATITIS
err2017-04-01
err0
PREAI
errFierbinteanu-Braticevici, Carmen Georgeta; Moldoveanu, Alexandru C.; Chirila, Razvan; Tribus, Laura; Peagu, Razvan; Necula, Ana; Diaconu, Sorina; Oprea, Gabriela
errShare
errSave
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
err2017-01-13
err51
errOAAI
errLohmann, Katja; Masuho, Ikuo; Patil, Dipak N.; Baumann, Hauke; Hebert, Eva; Steinruecke, Sofia; Trujillano, Daniel; Skamangas, Nickolas K.; Dobricic, Valerija; Huening, Irina; Gillessen-Kaesbach, Gabriele; Westenberger, Ana; Savic-Pavicevic, Dusanka; Muenchau, Alexander; Oprea, Gabriela; Klein, Christine; Rolfs, Arndt; Martemyanov, Kirill A.
errShare
errSave
Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations
err2017-01-01
err1
PREAI
errRolfs, Arndt; Oprea, Gabriela; Kramp, Guido; Giese, Anne-Katrin; Zielke, Susanne; Lukas, Jan; Cozma, Claudia
errShare
errSave