Samuel Baker
University of Pennsylvania
H-index: 13
North America-United States
Top articles of Samuel Baker
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder
Genetics in Medicine
2023/4/20
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
The Journal of Molecular Diagnostics
2022/3/1
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute
The Journal of Molecular Diagnostics
2022/2/1
Samuel Baker
H-Index: 10
Clinical Exome Reanalysis: Current Practice and Beyond
Molecular Diagnosis & Therapy
2021/9
Samuel Baker
H-Index: 10
Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome
Prenatal diagnosis
2021/6
Improved molecular detection of mosaicism in Beckwith-Wiedemann syndrome
Journal of medical genetics
2021/3/1
Capacity to erase gene occlusion is a defining feature distinguishing naive from primed pluripotency
bioRxiv
2021/1/1
Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci
2020/6/1
Bibliome Variant Database: Automated Identification and Annotation of Genetic Variants in Primary Literature
bioRxiv
2020/1/1
