Anya Revah-Politi

发表

Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study

W. Chung, K. Marder, P. Appelbaum, 2019, Genetics in Medicine.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

N. Brunetti‐Pierri, M. Mansukhani, F. Santos-Simarro, 2021, American journal of medical genetics. Part A.

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield

I. Scheffer, D. Goldstein, H. Goodkin, 2019, Epilepsia.

Genetic testing in individuals with cerebral palsy

D. Goldstein, J. Carmel, L. Bier, 2021, Developmental medicine and child neurology.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

J. Rosenfeld, M. Reijnders, J. Lupski, 2017, American journal of human genetics.

Causal Genetic Variants in Stillbirth.

Christie M. Buchovecky, D. Goldstein, C. Parker, 2020, The New England journal of medicine.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series

D. Goldstein, S. Petrovski, V. Aggarwal, 2017, American journal of medical genetics. Part A.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Vinodh Narayanan, Christian Kubisch, Dominique Bonneau, 2018, American journal of human genetics.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Richard M Myers, Gregory M Cooper, Susan M Hiatt, 2018, bioRxiv.

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

A. Paetau, A. Liston, G. Bultynck, 2020, Annals of clinical and translational neurology.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, J. Rosenfeld, N. Brown, 2021, Human mutation.

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

D. Goldstein, K. Roche, J. Baptista, 2021, Genetics in Medicine.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

R. Pfundt, H. Mefford, D. Goldstein, 2018, Annals of neurology.

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

V. Jobanputra, V. D’Agati, S. Zacharoulis, 2022, Kidney international reports.

Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.

A. Gharavi, R. Wapner, K. Anyane-Yeboa, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2021, Human mutation.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Y. Okazaki, H. Williams, M. Dattani, 2018, American journal of human genetics.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Denise G. Lanza, Jason D. Heaney, J. Posey, 2024, American journal of human genetics.