Bibliotecas PUC-SP - Busca Integrada

P282: Germline NF1 variant and mosaic chromoanasynthesis of chromosome 12

door Rachel Rabin, John Pappas
Gepubliceerd in Genetics in Medicine Open (2024-01-01)

P454: Deletion of exons 10 and 11 in FGFR2: Mother and daughter with sagittal craniosynostosis and micrognathia

door John Pappas, Seth Shanefield, Michelle Goodman, Rachel Rabin
Gepubliceerd in Genetics in Medicine Open (2024-01-01)

Sudden unexpected death in asymptomatic infants due to PPA2 variants

door Colin K. L. Phoon, Matthew Halvorsen, David B. Goldstein, Rachel Rabin, Frank Cecchin, Laura Crandall, Orrin Devinsky
Gepubliceerd in Molecular Genetics & Genomic Medicine (2020-01-01)

Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the Literature

door Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina
Gepubliceerd in Genes (2023-05-01)

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

door Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A.E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Singh, Mohammed E. El-Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna A. Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Õunap, Mathew L. Coleman
Gepubliceerd in The Journal of Clinical Investigation (2023-04-01)

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

door Elizabeth A. Werren, Emily R. Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K. L. I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun A. Rappold, Rachel Rabin, John G. Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie L. Bielas
Gepubliceerd in Cell Death and Disease (2024-05-01)

Association between cannabis use and symptom dimensions in schizophrenia spectrum disorders: an individual participant data meta-analysis on 3053 individualsResearch in context

door Mathilde Argote, Guillaume Sescousse, Jérôme Brunelin, Grégoire Baudin, Michael Patrick Schaub, Rachel Rabin, Thomas Schnell, Petter Andreas Ringen, Ole Andreas Andreassen, Jean Margaret Addington, Paolo Brambilla, Giuseppe Delvecchio, Andreas Bechdolf, Thomas Wobrock, Thomas Schneider-Axmann, Daniela Herzig, Christine Mohr, Regina Vila-Badia, Judith Usall Rodie, Jasmina Mallet, Valerio Ricci, Giovanni Martinotti, Karolína Knížková, Mabel Rodriguez, Jacob Cookey, Philip Tibbo, Freda Scheffler, Laila Asmal, Clemente Garcia-Rizo, Silvia Amoretti, Christian Huber, Heather Thibeau, Emily Kline, Eric Fakra, Renaud Jardri, Mikail Nourredine, Benjamin Rolland
Gepubliceerd in EClinicalMedicine (2023-10-01)

Germline AGO2 mutations impair RNA interference and human neurological development

door Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp
Gepubliceerd in Nature Communications (2020-11-01)

The electroencephalography protocol for the Accelerating Medicines Partnership® Schizophrenia Program: Reliability and stability of measures

door Daniel H. Mathalon, Spero Nicholas, Brian J. Roach, Tashrif Billah, Suzie Lavoie, Thomas Whitford, Holly K. Hamilton, Lauren Addamo, Andrey Anohkin, Tristan Bekinschtein, Aysenil Belger, Kate Buccilli, John Cahill, Ricardo E. Carrión, Stefano Damiani, Ilvana Dzafic, Bjørn H. Ebdrup, Igor Izyurov, Johanna Jarcho, Raoul Jenni, Anna Jo, Sarah Kerins, Clarice Lee, Elizabeth A. Martin, Rocio Mayol-Troncoso, Margaret A. Niznikiewicz, Muhammad Parvaz, Oliver Pogarell, Julio Prieto-Montalvo, Rachel Rabin, David R. Roalf, Jack Rogers, Dean F. Salisbury, Riaz Shaik, Stewart Shankman, Michael C. Stevens, Yi Nam Suen, Nicole C. Swann, Xiaochen Tang, Judy L. Thompson, Ivy Tso, Julian Wenzel, Juan Helen Zhou, Jean Addington, Luis Alameda, Celso Arango, Nicholas J. K. Breitborde, Matthew R. Broome, Kristin S. Cadenhead, Monica E. Calkins, Rolando I. Castillo-Passi, Eric Yu Hai Chen, Jimmy Choi, Philippe Conus, Cheryl M. Corcoran, Barbara A. Cornblatt, Covadonga M. Diaz-Caneja, Lauren M. Ellman, Paolo Fusar-Poli, Pablo A. Gaspar, Carla Gerber, Louise Birkedal Glenthøj, Leslie E. Horton, Christy Lai Ming Hui, Joseph Kambeitz, Lana Kambeitz-Ilankovic, Matcheri S. Keshavan, Minah Kim, Sung-Wan Kim, Nikolaos Koutsouleris, Jun Soo Kwon, Kerstin Langbein, Daniel Mamah, Vijay A. Mittal, Merete Nordentoft, Godfrey D. Pearlson, Jesus Perez, Diana O. Perkins, Albert R. Powers, Fred W. Sabb, Jason Schiffman, Jai L. Shah, Steven M. Silverstein, Stefan Smesny, William S. Stone, Gregory P. Strauss, Rachel Upthegrove, Swapna K. Verma, Jijun Wang, Daniel H. Wolf, Tianhong Zhang, Sylvain Bouix, Ofer Pasternak, Kang-Ik K. Cho, Michael J. Coleman, Dominic Dwyer, Angela Nunez, Zailyn Tamayo, Stephen J. Wood, Rene S. Kahn, John M. Kane, Patrick D. McGorry, Carrie E. Bearden, Barnaby Nelson, Scott W. Woods, Martha E. Shenton, Accelerating Medicines Partnership® Schizophrenia Program, Gregory A. Light
Gepubliceerd in Schizophrenia (2025-06-01)

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

door Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Rosenfelt, Marie Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas J. Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna M. Hajdukowicz, Franziska G. Thiel, Sophie Wolfgramm, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Yann Verrès, Audrey Dangoumau, Léa Poirier, Ingrid M. Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill A. Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G. Monaghan, Sureni V. Mullegama, Catharina M. L. Nienke Volker-Touw, Koen L. I. van Gassen, Renske Oegema, Mirjam S. de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V. Fabie, Raphael A. Bernier, Tychele N. Turner, Siddharth Srivastava, Kira A. Dies, Lindsay C. Swanson, Carrie Costin, Alali Abdulrazak, Rebekah K. Jobling, John Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B. Beck, May Christine V. Malicdan, David R. Adams, Lynne Wolfe, Rebecca D. Ganetzky, Colleen C. Muraresku, Davit Babikyan, Zdeněk Sedláček, Miroslava Hančárová, Andrew T. Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, MJ Hajianpour, Gregory Costain, D’Arcy Prendergast, Chumei Li, David Geneviève, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Sabir, Derek Lim, Mark J. Hamilton, Lisa J. Bryson, Elaine Cleary, Sacha Weber, Trevor L. Hoffman, Anna M. Cueto-González, Eduardo F. Tizzano, David Gómez-Andrés, Marta Codina-Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah J. Langas, Anne M. McRae, Mathieu K. Lessard, Maria Daniela D’Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B. Kamphausen, Viktoria Bothe, Lorraine Potocki, Eric Olinger, Yves Sznajer, Elsa Wiame, Michelle L. Thompson, Molly C. Schroeder, Catherine Gooch, Raphael A. Smith, Arti Pandya, Larissa M. Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Clémentine Ripoll, Stéphanie Bigou, Frédéric Laumonnier, Peter W. Hildebrand, Evan E. Eichler, Kirsty McWalter, Peter M. Krawitz, Florence Roux-Dalvai, Ype Elgersma, Julien Marcoux, Marie-Pierre Bousquet, Arnaud Droit, Jeremie Poschmann, Andreas M. Grabrucker, Francois V. Bolduc, Stéphane Bézieau, Frédéric Ebstein, Elke Krüger
Gepubliceerd in Nature Communications (2025-11-01)