S. Baker

发表

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

Michael A. Gonzalez, I. Krantz, N. Spinner, 2018, European Journal of Human Genetics.

Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: a Computational Phenotype-driven Approach

Michael A. Gonzalez, I. Krantz, N. Spinner, 2018, bioRxiv.

Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci.

S. Baker, A. Santani, W. Tan, 2020, European journal of medical genetics.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

CBX1 variants cause a neurodevelopmental syndrome due to facultative heterochromatin dysfunction

E. Zackai, S. Grant, T. Roscioli, 2020 .

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

I. Krantz, L. Medne, Minjie Luo, 2019, The Journal of molecular diagnostics : JMD.

Systematic mapping of occluded genes by cell fusion reveals prevalence and stability of cis-mediated silencing in somatic cells

K. White, Lu Zhang, G. Schroth, 2014, Genome research.

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

A. Ganguly, S. Baker, M. Deardorff, 2020, Journal of Medical Genetics.

CBX1 mutations cause a neurodevelopmental syndrome due to heterochromatin organizational alterations

E. Zackai, S. Grant, T. Roscioli, 2020 .

An interferon-related gene signature for DNA damage resistance is a predictive marker for chemotherapy and radiation for breast cancer

Hemant Ishwaran, Taewon Yoon, Yudi Pawitan, 2008, Proceedings of the National Academy of Sciences.

Embryonic stem cells induce pluripotency in somatic cell fusion through biphasic reprogramming.

S. Baker, B. Lahn, A. Xiang, 2012, Molecular cell.

Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver

Christopher D. Brown, S. Grant, D. Rader, 2018, bioRxiv.

Molecular Diagnostic Outcomes from 700 Cases

Michael A. Gonzalez, E. Zackai, I. Krantz, 2022, The Journal of molecular diagnostics : JMD.

Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2

C. Alter, S. Baker, B. Krock, 2018, The Journal of clinical endocrinology and metabolism.

Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome

A. Ganguly, S. Baker, J. Kalish, 2021, Prenatal diagnosis.

Evidence for a critical role of gene occlusion in cell fate restriction

S. Baker, B. Lahn, A. Xiang, 2011, Cell Research.

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

E. Zackai, P. Kaplan, I. Krantz, 2018, American journal of medical genetics. Part A.

Clinical Exome Reanalysis: Current Practice and Beyond

Joshua L. Deignan, S. Baker, A. Santani, 2021, Molecular Diagnosis & Therapy.

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

Michael A. Gonzalez, I. Krantz, N. Spinner, 2018, bioRxiv.

Capacity to erase gene occlusion is a defining feature distinguishing naive from primed pluripotency

G. Fan, S. Baker, Bohou Wu, 2021, bioRxiv.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

R. Pfundt, H. Firth, H. Brunner, 2019, American journal of human genetics.

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

Maeson S. Latsko, E. Zackai, D. Koboldt, 2023, bioRxiv.

Host Genetic Variation Influences Gene Expression Response to Rhinovirus Infection

Samuel W. Baker, Yoav Gilad, Carole Ober, 2015, PLoS genetics.

Embryonic stem cells induce pluripotency in somatic cell fusion through biphasic reprogramming.

S. Baker, B. Lahn, A. Xiang, 2012, Molecular cell.