Associated Papers
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.
L'Erario FF et al.
Genes, 2025
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.
DeSpenza T et al.
Nature Neuroscience, 2025
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
34492006 (PubMed )
Supplement: pgen.1009774.s009.xlsx › Batch_4
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Martinez-Granero F et al.
Npj Genomic Medicine, 2021
Outcome of Targeted Therapy Recommendations for Metastatic and Recurrent Head and Neck Cancers.
Taghizadeh H et al.
Cancers, 2020
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.
Post KL et al.
Nature Communications, 2020
Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.
Yotsumoto Y et al.
Molecular and Clinical Oncology, 2020
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
33408741 (PubMed )
Supplement: Table_3.XLSX › Sheet2
PTEN in Autism and Neurodevelopmental Disorders.
Rademacher S et al.
Cold Spring Harbor Perspectives in Medicine, 2019
Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.
Mathot L et al.
Cancer Research, 2017
28108514 (PubMed )
Supplement: 00085472can161921-sup-168924_1_supp_3776455_bhx39b.pdf
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Vanderver A et al.
American Journal of Medical Genetics. Part A, 2014
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