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Author Details

Ghayda M Mirzaa
Seattle Children's Hospital.
2004
106
37
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36216457Clinical, neuroimaging and molecular characteristics of <i>PPP2R5D</i>-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.J Med Genet2023
37560121Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.Neurol Genet2023
37619436Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.Pediatr Neurol2023
37841849Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.Res Sq2023
37741456Protein interaction network analysis of mTOR signaling reveals modular organization.J Biol Chem2023
37577705Protein interaction network analysis of mTOR signaling reveals modular organization.bioRxiv2023
37165955Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.Genet Med2023
37194416Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.Ann Clin Transl Neurol2023
36798371Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.bioRxiv2023
36071576Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.Clin Genet2023
34237354Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies.J Am Acad Dermatol2022
35857185Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.Adv Ther2022
35626846Pulmonary Vein Stenosis Associated with Germline <i>PIK3CA</i> Mutation.Children (Basel)2022
35483878The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the <i>PIK3CA</i>-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.Cold Spring Harb Mol Case Stud2022
35355055Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.Brain2022
35871307ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.Ann Clin Transl Neurol2022
36137748Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.Life Sci Alliance2022
34240408A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clin Genet2022
32571897Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>.J Med Genet2021
33824500Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.Genet Med2021
33874999Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.Genome Med2021
34478656Response to Hamosh et al.Am J Hum Genet2021
34450031COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.Am J Hum Genet2021
33938618Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations.Am J Med Genet A2021
34345025Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.Genet Med2021
34087052Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.Am J Med Genet A2021
34163010Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.Eur J Hum Genet2021
33220177Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.Neuron2021
33417889A dyadic approach to the delineation of diagnostic entities in clinical genomics.Am J Hum Genet2021
333891455q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.Hum Genet2021
33205886The spectrum of brain malformations and disruptions in twins.Am J Med Genet A2021
33090494Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.J Neurochem2021
32884133Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.Genet Med2021
32135084Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.Neuron2020
31729162Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.Am J Med Genet A2020
31723249De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.Genet Med2020
32097630Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.Neuron2020
31857706Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.Genet Med2020
33034087Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.J Intellect Disabil Res2020
33199684Germline AGO2 mutations impair RNA interference and human neurological development.Nat Commun2020
33274544Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.Am J Med Genet C Semin Med Genet2020
32856318PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes.Ann Neurol2020
32730804Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.Am J Hum Genet2020
32895508International consensus recommendations on the diagnostic work-up for malformations of cortical development.Nat Rev Neurol2020
30817854SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.Hum Mutat2019
32042906Defining and expanding the phenotype of <i>QARS</i>-associated developmental epileptic encephalopathy.Neurol Genet2019
31735666Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.Dev Cell2019
31504246De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.Brain2019
31474318Redefining the Etiologic Landscape of Cerebellar Malformations.Am J Hum Genet2019
31441589Megalencephaly 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 Genet2019
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Collaborators

University of Minnesota
Co-authored papers 48
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Co-authored papers 12
University of Washington
Co-authored papers 9
Children's Hospital of Philadelphia
Co-authored papers 8
King Faisal Specialist Hospital and Research Center
Co-authored papers 8
University of California
Co-authored papers 7
Stanford University
Co-authored papers 7
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 6
University of Washington
Co-authored papers 6
university of california los angeles
Co-authored papers 6
4Center for Integrated Brain Research, Seattle Children's Hospital
Co-authored papers 6
Loma Linda University Health
Co-authored papers 6
Baylor College of Medicine
Co-authored papers 5
Cincinnati Children's Hospital Medical Center
Co-authored papers 5
university of california san diego School of Medicine, University of California
Co-authored papers 5
Kaiser Permanente Washington
Co-authored papers 4
Institute of Neurology, University College London (UCL)
Co-authored papers 4
Baylor College of Medicine
Co-authored papers 4
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University of Washington
Co-authored papers 4
University of Washington
Co-authored papers 4
Children's Hospital of Eastern Ontario
Co-authored papers 4
University of Washington, USA Brotman Baty Institute for Precision Medicine
Co-authored papers 4
National Human Genome Research Institute, National Institutes of Health
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Children's Hospital of Philadelphia
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Baylor College of Medicine
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Vrije Universiteit Brussel
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