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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G., van Veghel-Plandsoen, Monique M., Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M.A., Geeven, Geert, Saris, Jasper J., van Ierland, Yvette, Verheijen, Frans W., van der Sterre, Marianne L.T., Sadeghi Niaraki, Farah, Smits, Daphne J., Huidekoper, Hidde H., Williams, Monique, Wilke, Martina, Verhoeven, Virginie J.M., Joosten, Marieke, Kievit, Anneke J.A., van de Laar, Ingrid M.B.H., Hoefsloot, Lies H., Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M.S., van Ham, Tjakko J.
Published in American journal of human genetics (02.02.2023)
Published in American journal of human genetics (02.02.2023)
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Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders
Seidlitz, Jakob, Nadig, Ajay, Liu, Siyuan, Bethlehem, Richard A. I., Vértes, Petra E., Morgan, Sarah E., Váša, František, Romero-Garcia, Rafael, Lalonde, François M., Clasen, Liv S., Blumenthal, Jonathan D., Paquola, Casey, Bernhardt, Boris, Wagstyl, Konrad, Polioudakis, Damon, de la Torre-Ubieta, Luis, Geschwind, Daniel H., Han, Joan C., Lee, Nancy R., Murphy, Declan G., Bullmore, Edward T., Raznahan, Armin
Published in Nature communications (03.07.2020)
Published in Nature communications (03.07.2020)
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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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A wireless, skin-interfaced biosensor for cerebral hemodynamic monitoring in pediatric care
Rwei, Alina Y., Lu, Wei, Wu, Changsheng, Human, Kelia, Suen, Emily, Franklin, Daniel, Fabiani, Monica, Gratton, Gabriele, Xie, Zhaoqian, Deng, Yujun, Kwak, Sung Soo, Li, Lizhu, Gu, Carol, Liu, Alanna, Rand, Casey M., Stewart, Tracey M., Huang, Yonggang, Weese-Mayer, Debra E., Rogersa, John A.
Published in Proceedings of the National Academy of Sciences - PNAS (15.12.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (15.12.2020)
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A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1
Ishida, Morié, Otero, María G, Freeman, Christina, Sánchez-Lara, Pedro A, Guardia, Carlos M, Pierson, Tyler Mark, Bonifacino, Juan S
Published in Human molecular genetics (20.03.2023)
Published in Human molecular genetics (20.03.2023)
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Neurodevelopmental or behavioral disorders in children conceived after assisted reproductive technologies: a nationwide cohort study
Angel, Patricia, Hermansen, Maja, Ramlau-Hansen, Cecilia Høst, Gaml-Sørensen, Anne, Kristensen, David Møbjerg, Lindahl-Jacobsen, Rune
Published in Fertility and sterility (01.04.2025)
Published in Fertility and sterility (01.04.2025)
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Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy
Buchignani, Bianca, Coratti, Giorgia, Cutrì, Chiara, Scattoni, Maria Luisa, Pane, Marika, Palermo, Concetta, Leone, Daniela, De Sanctis, Roberto, Stanca, Giulia, Antonaci, Laura, Cutrona, Costanza, Pera, Maria Carmela, Brogna, Claudia, Cristofani, Paola, Fulceri, Francesca, Baranello, Giovanni, Mercuri, Eugenio
Published in Scientific reports (24.07.2025)
Published in Scientific reports (24.07.2025)
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Association of intraoperative circulating-brain injury biomarker and neurodevelopmental outcomes at 1 year among neonates who have undergone cardiac surgery
Graham, Eric M., Martin, Renee' H., Atz, Andrew M., Hamlin-Smith, Kasey, Kavarana, Minoo N., Bradley, Scott M., Alsoufi, Bahaaldin, Mahle, William T., Everett, Allen D.
Published in The Journal of thoracic and cardiovascular surgery (01.05.2019)
Published in The Journal of thoracic and cardiovascular surgery (01.05.2019)
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Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT
Boeri, Silvia, Bodria, Monica, Ammendola, Rosa Maria, Giacomini, Thea, Tortora, Domenico, Nobili, Lino, Malacarne, Michela, Rossi, Andrea, Verrina, Enrico, Piaggio, Giorgio, Mancardi, Maria Margherita, Severino, Mariasavina
Published in Pediatric nephrology (Berlin, West) (01.07.2024)
Published in Pediatric nephrology (Berlin, West) (01.07.2024)
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Bend, Eric G., Aref-Eshghi, Erfan, Everman, David B., Rogers, R. Curtis, Cathey, Sara S., Prijoles, Eloise J., Lyons, Michael J., Davis, Heather, Clarkson, Katie, Gripp, Karen W., Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A., Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J., Stevenson, Roger E., Schwartz, Charles E., Sadikovic, Bekim
Published in Clinical epigenetics (27.04.2019)
Published in Clinical epigenetics (27.04.2019)
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A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Pode-Shakked, Ben, Barel, Ortal, Singer, Amihood, Regev, Miriam, Poran, Hana, Eliyahu, Aviva, Finezilber, Yael, Segev, Meirav, Berkenstadt, Michal, Yonath, Hagith, Reznik-Wolf, Haike, Gazit, Yael, Chorin, Odelia, Heimer, Gali, Gabis, Lidia V., Tzadok, Michal, Nissenkorn, Andreea, Bar-Yosef, Omer, Zohar-Dayan, Efrat, Ben-Zeev, Bruria, Mor, Nofar, Kol, Nitzan, Nayshool, Omri, Shimshoviz, Noam, Bar-Joseph, Ifat, Marek-Yagel, Dina, Javasky, Elisheva, Einy, Reviva, Gal, Moran, Grinshpun-Cohen, Julia, Shohat, Mordechai, Dominissini, Dan, Raas-Rothschild, Annick, Rechavi, Gideon, Pras, Elon, Greenbaum, Lior
Published in Scientific reports (27.09.2021)
Published in Scientific reports (27.09.2021)
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TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay
Hanson, Jennifer, Brezavar, Daniel, Hughes, Susan, Amudhavalli, Shivarajan, Fleming, Emily, Zhou, Dihong, Alaimo, Joseph T., Bonnen, Penelope E.
Published in Clinical genetics (01.02.2022)
Published in Clinical genetics (01.02.2022)
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Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients
Li, Dong, Downes, Helen, Hou, Cuiping, Hakonarson, Hakon, Zackai, Elaine H., Schrier Vergano, Samantha A., Bhoj, Elizabeth J.
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Parent‐reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review
Saldaris, Jacinta M., Ayalde, Jeremiah, Kankanange, Samali, Keeley, Jessica, Leonard, Helen, Jacoby, Peter, Marsh, Eric D., Benke, Tim A., Demarest, Scott T., Downs, Jenny
Published in International journal of language & communication disorders (01.11.2024)
Published in International journal of language & communication disorders (01.11.2024)
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An approach for prevention planning based on the prevalence and comorbidity of neurodevelopmental disorders in 6-year-old children receiving primary care consultations on the island of Menorca
Francés, Lorena, Caules, Jessica, Ruiz, Antoni, Soler, Catalina Virgínia, Hervás, Amaia, Fernández, Alberto, Rodríguez-Quiroga, Alberto, Quintero, Javier
Published in BMC pediatrics (20.01.2023)
Published in BMC pediatrics (20.01.2023)
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Assessment of general movements and heart rate variability in prediction of neurodevelopmental outcome in preterm infants
Dimitrijević, Lidija, Bjelaković, Bojko, Čolović, Hristina, Mikov, Aleksandra, Živković, Vesna, Kocić, Mirjana, Lukić, Stevo
Published in Early human development (01.08.2016)
Published in Early human development (01.08.2016)
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Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume
Chen, Xiang, Chen, Yuxi, Yan, Kai, Chen, Huiyao, Qin, Qian, Yang, Lin, Liu, Bo, Cheng, Guoqiang, Cao, Yun, Wu, Bingbing, Dong, Xinran, Qiao, Zhongwei, Zhou, Wenhao
Published in Chinese medical journal (05.04.2023)
Published in Chinese medical journal (05.04.2023)
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