GhaydaMirzaaMD

PubMed

• Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
  David Picketts, Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin, Stephan Collins, Alban Ziegler, Emily Pao, Nora Oyama, Elise Brischoux-Boucher, ...> ;Research Square. 2023 Sep 29
• Protein interaction network analysis of mTOR signaling reveals modular organization.
  Devin T Wehle, Carter S Bass, Josef Sulc, Ghayda Mirzaa, Stephen E P Smith> ;The Journal of Biological Chemistry. 2023 Nov 1
• Protein interaction network analysis of mTOR signaling reveals modular organization.
  Devin T Wehle, Carter S Bass, Josef Sulc, Ghayda Mirzaa, Stephen E P Smith> ;Biorxiv. 2023 Aug 4
• Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
  Emily Shelkowitz, Nicholas V Stence, Ilana Neuberger, Kristen L Park, Margarita S Saenz, Emily Pao, Nora Oyama, Seth D Friedman, Dennis W W Shaw, Ghayda M Mirzaa> ;Pediatric Neurology. 2023 Oct 1
• Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
  Jonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, Giuseppe Albano, Danny E Miller, Aimee Allworth, James T Bennett, Peter H Byers, Sirisak Chanprasert, Jingheng Ch...> ;Annals of Clinical and Translational Neurology. 2023 Jun 1
• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
  Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delph...> ;Genetics in Medicine. 2023 Aug 1
• 1 citations
  Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
  Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Adriana Sedeño Cortés, Jane Ranchalis, Aimee Allworth, Austin E Bland, Siri...> ;Biorxiv. 2023 Feb 7
• 11 citations
  Clinical, neuroimaging and molecular characteristics of-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotyp...
  Nora Oyama, Pieter Vaneynde, Sara Reynhout, Emily M Pao, Andrew Timms, Xiao Fan, Kimberly Foss, Rita Derua, Veerle Janssens, Wendy Chung, Ghayda M Mirzaa> ;Journal of Medical Genetics. 2023 May 1
• 5 citations
  Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.
  Debora Tibbe, Pia Ferle, Christoph Krisp, Sheela Nampoothiri, Ghayda Mirzaa, Melissa Assaf, Sumit Parikh, Kerstin Kutsche, Hans-Jürgen Kreienkamp> ;Life Science Alliance. 2022 Oct 1
• 4 citations
  Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
  Michelle Adutwum, Anna Hurst, Ghayda Mirzaa, Jessica D Kushner, Caleb Rogers, Nahla Khalek, Ana G Cristancho, Natalie Burrill, Michael E Seifert, Maria I Scarano, Rhon...> ;Clinical Genetics. 2023 Jan 1
• 1 citations
  Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.
  Joy Dexheimer, Ghayda M Mirzaa> ;Advances in Therapy. 2022 Sep 1
• 4 citations
  The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
  Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, Anthony J Barkovich, Yang Cao, Marina DiStefano, Michael Evenson, Renzo Guerrini, Devon Knight, Yi-Shan Lee, Hea...> ;Genetics in Medicine. 2022 Nov 1
• 1 citations
  ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
  Ajay X Thomas, Nichole Link, Laurie A Robak, Gail Demmler-Harrison, Emily C Pao, Audrey E Squire, Savannah Michels, Julie S Cohen, Anne Comi, Paolo Prontera, Alberto V...> ;Annals of Clinical and Translational Neurology. 2022 Aug 1
• 1 citations
  Pulmonary Vein Stenosis Associated with GermlineMutation.
  Delphine Yung, Kaitlyn Freeman, Ghayda Mirzaa> ;Children. 2022 May 5
• 16 citations
  Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
  Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E Timms, Josef Sulc, Emily Pao, Nora Oyama, Francesca Forzano, Valerio Conti, Renzo Guerrini,...> ;Brain. 2022 Apr 29
• 8 citations
  The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
  Wei-Liang Chen, Emily Pao, James Owens, Ian Glass, Colin Pritchard, Brain H Shirts, Christina Lockwood, Ghayda M Mirzaa> ;Cold Spring Harbor Molecular Case Studies. 2022 Apr 1
• Response to Hamosh et al.
  Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian H.Y. ...> ;American Journal of Human Genetics. 2021 Sep 2
• 16 citations
  COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
  Ronit Marom, Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco-Sánchez, Mahim Jain, Daryl A. Scott, Jill A. Rosenfeld, V. Reid Sutton, Marwan Shi...> ;American Journal of Human Genetics. 2021 Sep 2
• 16 citations
  Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
  Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona-Londoño, Karla A. Peña-Guerra, Yolande van Bever, ...> ;Genetics in Medicine. 2021 Aug 3
• 18 citations
  A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement
  Sofia Douzgou, Myfanwy Rawson, Eulalia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler-Noreuil, Paul Kuentz, Grazia M.S. Mancini, Marie-Céci...> ;Clinical Genetics. 2021 Jul 8
• 5 citations
  Cutaneous vascular anomalies associated with mosaic variant in AKT3; Genetic analysis continues to refine diagnosis, nomenclature, and classification of vascular anoma...
  Olivia M. T. Davies, Maria C. Garzon, Ilona J. Frieden, Catherine E. Cottrell, Karen W. Gripp, Russell P. Saneto, Tor Shwayder, Ghayda M. Mirzaa, Beth A. Drolet> ;Journal of the American Academy of Dermatology. 2021 Jul 6
• 8 citations
  Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features
  Maha S. Zaki, Andrea Accogli, Ghayda Mirzaa, Fatima Rahman, Hiba Mohammed, Gloria Liliana Porras-Hurtado, Stephanie Efthymiou, Shazia Maqbool, Anju Shukla, John B. Vin...> ;European Journal of Human Genetics. 2021 Jun 24
• 12 citations
  Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
  Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy L. Peirce, Jeremy Wegner, Alia A. Luna, Eric J. Fox, Yi-Lin Yan, Jill A. Rosenf...> ;Genetics in Medicine. 2021 Jun 10
• 11 citations
  Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
  Filomena Pirozzi, Benson Lee, Nicole Horsley, William B. Dobyns, John M. Graham, Maria Lisa Dentici, Claudia Cesario, Jens Schallner, Joseph Porrmann, Nataliya Di Dona...> ;American Journal of Medical Genetics. Part A. 2021 Jun 4
• 3 citations
  Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations.
  Aaron P Adam, Kurlen S.E. Payton, Pedro A. Sanchez-Lara, Margaret P. Adam, Ghayda M. Mirzaa> ;American Journal of Medical Genetics. Part A. 2021 May 3
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Journal Articles

• The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the Divide Between Clinical Domain Knowledge and Formal Gene Curation Criteria  
  Ghayda Mirzaa, Kristen Park, Tristan T Sands, Erika Axeen, Tanya M Bardakjian, Annapurna Poduri, Katherine L Helbig, Heather C Mefford, Human Mutation
• Further Delineation of Malan Syndrome  
  Ghayda Mirzaa, MD, Human Mutation