Ghayda M Mirzaa (Ghayda Mirzaa)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 18

Top Venues

American journal of medical genetics. Part A

American journal of medical genetics. Part C, Seminars in medical genetics

Nature reviews. Neurology

Research square

This page only lists publications with an associated author ORCID identifier.

Publications

David Picketts, Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin, Stephan Collins, Alban Ziegler, Emily Pao, Nora Oyama, Elise Brischoux-Boucher, Juliette Piard, Kristin Monaghan, Maria Guillen Sacoto, William B Dobyns, Kristen L Park, Daniel Fernández-Mayoralas, Alberto Fernández Jaén, Parul Jayakar, Alfredo Brusco, Vincenzo Antona, Elisa Giorgio, Malin Kvarnung, Bertrand Isidor, Solène Conrad, Benjamin Cogné, Wallid Deb, K E Stuurman, Katalin Sterbova, Noor Smal, Sarah Weckhuysen, Renske Oegema, A Micheil Innes, Maeson Latsko, Tawfeg Ben-Omran, Rebecca Yeh, Michael C Kruer, Somayeh Bakhtiari, Antigone Papavasiliou, Sébastien Moutton, Sophie Nambot, Sirisak Chanprasert, Sarah Paolucci, Kait Miller, Barbara Burton, Katherine Kim, Emily O'Heir, Zandre Bruwer, Kirsten Ann Donald, Tjitske Kleefstra, Amy Goldstein, Brad Angle, Kelly Bontempo, Peter Miny, Pascal Joset, Florence Demurger, Emma Hobson, Lewis Pang, Lori Carpenter, Dong Li, Dominique Bonneau, Bekim Sadikovic
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Research square (2023)
Nora Oyama, Pieter Vaneynde, Sara Reynhout, Emily M Pao, Andrew Timms, Xiao Fan, Kimberly Foss, Rita Derua, Veerle Janssens, Wendy K Chung, Ghayda M Mirzaa
Clinical, neuroimaging and molecular characteristics of PPP2R5D -related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. Journal of medical genetics (2022)
Debora Tibbe, Pia Ferle, Christoph Krisp, Sheela Nampoothiri, Ghayda M Mirzaa, Melissa Assaf, Sumit Parikh, Kerstin Kutsche, Hans-Jürgen Kreienkamp
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain. Life science alliance 5 (10) (2022)
Delphine Yung, Kaitlyn Freeman, Ghayda M Mirzaa
Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation. Children (Basel, Switzerland) 9 (5) (2022)
Aaron P Adam, Kurlen S E Payton, Pedro A Sanchez-Lara, Margaret P Adam, Ghayda M Mirzaa
Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations. American journal of medical genetics. Part A 185 (9) (2021)
Filomena Pirozzi, Benson Lee, Nicole Horsley, Deepika D'Cunha Burkardt, William B Dobyns, John M Graham, Maria Lisa Dentici, Claudia Cesario, Jens Schallner, Joseph Porrmann, Nataliya Di Donato, Pedro A Sanchez-Lara, Ghayda M Mirzaa
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. American journal of medical genetics. Part A 185 (9) (2021)
Maha Saad Zaki, Andrea Accogli, Ghayda M Mirzaa, Fatima Rahman, Hiba Mohammed, Gloria Liliana Porras-Hurtado, Stephanie Efthymiou, Shazia Maqbool, Anju Shukla, John B Vincent, Abrar Hussain, Asif Mir, Christian Beetz, Anika Leubauer, Henry Houlden, Joseph G Gleeson, Reza Maroofian
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features. European journal of human genetics : EJHG 29 (8) (2021)
Andrew K Sobering, Dong Li, Jennifer S Beighley, John C Carey, Tyhiesia Donald, Sarah H Elsea, Karla P Figueroa, Jennifer Gerdts, Andre Hamlet, Ghayda M Mirzaa, Beverly Nelson, Stefan M Pulst, Janice L Smith, Flora Tassone, Helga V Toriello, Ruth H Walker, Katherine R Yearwood, Elizabeth J Bhoj
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community. American journal of medical genetics. Part C, Seminars in medical genetics 184 (4) (2020)
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 Kovačević, 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 G 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
Germline AGO2 mutations impair RNA interference and human neurological development. Nature communications 11 (1) (2020)
Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi-Buisson, Valerio Conti, Andrew E Fry, Tobias Geis, David Gomez Andres, Elena Parrini, Ivana Pogledic, Edith Said, Doriette Soler, Luis M Valor, Maha Saad Zaki, Ghayda M Mirzaa, William B Dobyns, Orly Reiner, Renzo Guerrini, Daniela T Pilz, Ute Hehr, Richard J Leventer, Anna C Jansen, Grazia M S Mancini, Nataliya Di Donato
International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature reviews. Neurology 16 (11) (2020)
Ghayda M Mirzaa, Jessica X Chong, Amélie Piton, Bernt Popp, Kimberly Foss, Hui Guo, Ricardo Harripaul, Kun Xia, Joshua Scheck, Kimberly A Aldinger, Samin A Sajan, Sha Tang, Dominique Bonneau, Anita Beck, Janson White, Sonal Mahida, Jacqueline Harris, Constance Smith-Hicks, Juliane Hoyer, Christiane Zweier, André Reis, Christian T Thiel, Rami Abou Jamra, Natasha Zeid, Amy Yang, Laura S Farach, Laurence Walsh, Katelyn Payne, Luis Rohena, Milen Velinov, Alban Ziegler, Elise Schaefer, Vincent Gatinois, David Geneviève, Marleen E H Simon, Jennefer Kohler, Joshua Rotenberg, Patricia Wheeler, Austin Larson, Michelle E Ernst, Cigdem I Akman, Rachel Westman, Patricia Blanchet, Lori-Anne Schillaci, Catherine Vincent-Delorme, Karen W Gripp, Francesca Mattioli, Gwenaël Le Guyader, Bénédicte Gerard, Michèle Mathieu-Dramard, Gilles Morin, Roksana Sasanfar, Muhammad Ayub, Nasim Vasli, Sandra Yang, Rick Person, Kristin G Monaghan, Deborah A Nickerson, Ellen van Binsbergen, Gregory M Enns, Annika M Dries, Leah J Rowe, Anne C H Tsai, Shayna Svihovec, Jennifer Friedman, Zehra Agha, Raheel Qamar, Lance H Rodan, Julian Martinez-Agosto, Charlotte W Ockeloen, Marie Vincent, William James Sunderland, Jonathan A Bernstein, null null, Evan E Eichler, John B Vincent, null null, Michael J Bamshad
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genetics in medicine : official journal of the American College of Medical Genetics 22 (3) (2019)
William B Dobyns, Ghayda M Mirzaa
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)
Anju Shukla, Russell P Saneto, Malavika Hebbar, Ghayda M Mirzaa, Katta Mohan Girisha
A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ. American journal of medical genetics. Part A 176 (5) (2019)
Shanlee Davis, Meredith A Ware, Jordan Zeiger, Matthew A Deardorff, Katheryn Lynn Grand, Adda Grimberg, Stephanie C Hsu, Megan Kelsey, Shideh Majidi, Revi P Matthew, Melanie Napier, Natalie Nokoff, Chitra Prasad, Andrew C Riggs, Margaret L McKinnon, Ghayda M Mirzaa
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. American journal of medical genetics. Part A 182 (1) (2019)
Katrine Marie Johannesen, Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Anne-Lise Poulat, Dorothee M Ville, Nicolas Chatron, Eva H Brilstra, Karin Geleijns, Alfred Peter Born, Scott McLean, Kimberly Nugent, Gareth S Baynam, Cathryn Poulton, Lauren Dreyer, Dylan Gration, Solveig Schulz, Andrea Dieckmann, Katherine L Helbig, Andreas Merkenschlager, Rami Abou Jamra, Anja Finck, Elena Gardella, Henrik Hjalgrim, Ghayda M Mirzaa, Francesco Brancati, Tatjana Bierhals, Jonas Denecke, Maja Hempel, Johannes R Lemke, Guido Rubboli, Petra Muschke, Renzo Guerrini, Annalisa Vetro, Dierk Niessing, Gaëtan Lesca, Rikke Steensjerre Moller
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurology. Genetics 5 (6) (2019)
Andrew M Piacitelli, Dana M Jensen, Heather Brandling-Bennett, Megan Mariner Gray, Maneesh Batra, Juliane Gust, Ameet I Thaker, Catherine Paschal, Karen D Tsuchiya, Colin C Pritchard, Jonathan Perkins, Ghayda M Mirzaa, James T Bennett
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients. American journal of medical genetics. Part A 176 (11) (2018)
Gaia Ruggeri, Andrew E Timms, Chi Cheng, Avery Weiss, Peter Kollros, Teresa Chapman, Hannah Tully, Ghayda M Mirzaa
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. American journal of medical genetics. Part A 176 (3) (2018)
Savannah Michels, Kimberly Foss, Kaylee Park, Katie Golden-Grant, Russell Saneto, Jonathan Lopez, Ghayda M Mirzaa
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development. American journal of medical genetics. Part A 173 (12) (2017)

Ghayda M Mirzaa.css-eqlu8i{font-size:small;padding-left:4px;} (Ghayda Mirzaa)

Publication Activity (10 Years)

Top Topics

Top Venues

Ghayda M Mirzaa (Ghayda Mirzaa)