Ghayda Mirzaa

Ghayda Mirzaa

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Ghayda Mirzaa

Ghayda Mirzaa

Publications by authors named "Ghayda Mirzaa"

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Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.

Am J Med Genet C Semin Med Genet 2019 Aug 23. Epub 2019 Aug 23.

University of Washington School of Medicine, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.c.31736DOI Listing
August 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.

Eur J Med Genet 2018 Dec 5;61(12):738-740. Epub 2018 Jun 5.

Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2018.06.002DOI Listing
December 2018

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

Am J Med Genet A 2018 12 4;176(12):2733-2739. Epub 2018 Dec 4.

Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.40657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312477PMC
December 2018

From microcephaly to megalencephaly: determinants of brain size.

Dialogues Clin Neurosci 2018 12;20(4):267-282

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436952PMC
December 2018

PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.

Genes Dev 2018 06 13;32(11-12):763-780. Epub 2018 Jun 13.

Developmental Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.

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http://genesdev.cshlp.org/lookup/doi/10.1101/gad.313171.118
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http://dx.doi.org/10.1101/gad.313171.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6049519PMC
June 2018

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.

Am J Med Genet A 2018 05;176(5):1232-1237

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.38687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5918416PMC
May 2018

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.

Am J Med Genet A 2018 03 17;176(3):676-681. Epub 2018 Jan 17.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5871351PMC
March 2018

Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.

Am J Med Genet A 2017 Dec 19;173(12):3127-3131. Epub 2017 Oct 19.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687290PMC
December 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.

Am J Med Genet A 2017 Jul 2;173(7):1951-1954. Epub 2017 May 2.

Department of Neurology, University of Rochester Medical Center, Rochester, New York.

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http://dx.doi.org/10.1002/ajmg.a.38236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5878136PMC
July 2017

Lissencephaly: Expanded imaging and clinical classification.

Am J Med Genet A 2017 Jun 25;173(6):1473-1488. Epub 2017 Apr 25.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526446PMC
June 2017

Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86".

Am J Med Genet A 2016 02 14;170(2):547. Epub 2015 Nov 14.

Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37449DOI Listing
February 2016

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

Am J Med Genet A 2015 Dec 14;167A(12):3096-102. Epub 2015 Sep 14.

Department of Neurology, University of Rochester Medical Center, Rochester, New York.

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http://dx.doi.org/10.1002/ajmg.a.37353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715619PMC
December 2015

An integrative computational approach for prioritization of genomic variants.

PLoS One 2014 15;9(12):e114903. Epub 2014 Dec 15.

Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America; Computation Institute, University of Chicago/Argonne National Laboratory, Chicago, Illinois, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0114903PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266634PMC
November 2015

Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor.

Pediatrics 2015 Mar;135(3):e736-9

Seattle Children's Hospital, Seattle, Washington; Department of Pediatrics, University of Washington, Seattle, Washington; Seattle Children's Protection Program, Seattle, Washington

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http://dx.doi.org/10.1542/peds.2014-2593DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338324PMC
March 2015

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

Am J Med Genet A 2014 Nov 12;164A(11):2879-86. Epub 2014 Aug 12.

Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research Seattle Children's Research Institute, Seattle, Washington; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.36707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205200PMC
November 2014

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Cell 2014 Sep;159(1):200-214

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA; Program in Structural and Computational Biology and Molecular Biophysics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298142PMC
September 2014

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Hum Genet 2014 Aug 20;133(8):1023-39. Epub 2014 Apr 20.

Division of Genetic Medicine, Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.

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http://link.springer.com/10.1007/s00439-014-1443-3
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http://dx.doi.org/10.1007/s00439-014-1443-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415612PMC
August 2014

The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.

Am J Med Genet A 2014 Jun 3;164A(6):1503-11. Epub 2014 Apr 3.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.36517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279915PMC
June 2014

Introduction: Brain malformations.

Am J Med Genet C Semin Med Genet 2014 Jun 22;166C(2):117-23. Epub 2014 May 22.

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http://dx.doi.org/10.1002/ajmg.c.31404DOI Listing
June 2014

Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.

Am J Med Genet C Semin Med Genet 2014 Jun 28;166C(2):156-72. Epub 2014 May 28.

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http://dx.doi.org/10.1002/ajmg.c.31401DOI Listing
June 2014

Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

Prenat Diagn 2013 Oct 23;33(10):1010-2. Epub 2013 Jul 23.

Division of Human Genetics, Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Neonatology, Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/pd.4178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962827PMC
October 2013

CDKL5 and ARX mutations in males with early-onset epilepsy.

Pediatr Neurol 2013 May;48(5):367-77

Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742321PMC
May 2013

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

Am J Med Genet C Semin Med Genet 2013 May 16;163C(2):122-30. Epub 2013 Apr 16.

Department of Pediatrics, Center for Integrative Brain Research, University of Washington, Seattle Children's Research Institute, Seattle, WA, USA.

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http://doi.wiley.com/10.1002/ajmg.c.31361
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.31361DOI Listing
May 2013

The microcephaly-capillary malformation syndrome.

Am J Med Genet A 2011 Sep 3;155A(9):2080-7. Epub 2011 Aug 3.

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1002/ajmg.a.34118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428374PMC
September 2011