S. Barnett

发表

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Michael T. Zimmermann, M. Zimmermann, Z. Niu, 2017, Cold Spring Harbor molecular case studies.

Tafazzin splice variants and mutations in Barth syndrome.

Susan M Kirwin, I. Gonzalez, S. Barnett, 2014, Molecular genetics and metabolism.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

H. Prokisch, Ryan J Schulze, M. McNiven, 2019, American journal of human genetics.

Importance of multi-disciplinary team approach in Feingold syndrome.

Tomoko Tanaka, A. Muzaffar, N. Litofsky, 2016 .

Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls

B. Lanpher, E. Klee, F. Pinto e Vairo, 2018, Pediatrics.

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

Z. Niu, Kristen Wigby, J. Friedman, 2022, Frontiers in Cell and Developmental Biology.

Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study

Beth K. Martin, J. Shendure, K. Friend, 2015, The Lancet Neurology.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Eric N. Anderson, T. Strom, J. Landers, 2021, Nature Communications.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Magalie S Leduc, D. Goldstein, E. van Binsbergen, 2021, Epilepsia.

Impact of integrated translational research on clinical exome sequencing

Michael T. Zimmermann, Gavin R. Oliver, Tammy M. McAllister, 2020, Genetics in Medicine.

Behavioural phenotype of Bardet-Biedl syndrome

P. Beales, T. Charman, S. Reilly, 2002, Journal of medical genetics.

A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome

Tomoko Tanaka, N. Litofsky, C. Harris, 2016, Case reports in neurological medicine.

Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34

F. Alkuraya, H. Kearney, V. Capra, 2019, Human mutation.

CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

E. Zackai, R. Ganetzky, A. Santani, 2014, American journal of medical genetics. Part A.

“CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases” American Journal of Medical Genetics Part A. 164:2557‐2566, 2014

E. Zackai, R. Ganetzky, A. Santani, 2015, American journal of medical genetics. Part A.