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Kristine Bachman

Counselor · Geisinger Health System

Credentials: ·

History

Geisinger Health System
Present

Research

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
The American Journal of Human Genetics · 2016 · 92 citations
Axenfeld-Rieger syndrome: more than meets the eye
Journal of Medical Genetics · 2023 · 60 citations
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
The American Journal of Human Genetics · 2019 · 45 citations

Andrea Seeley
7 papers
IW
Ingrid Wentzensen
2 papers
JG
Jennifer van Gelder
2 papers
KL
Kristin Lindstrom
2 papers
Suneeta Madan-Khetarpal
2 papers
TJ
Tamison Jewett
2 papers
VN
Vinodh Narayanan
2 papers
AD
Aditi Dagli
1 paper
Alex Levin
1 paper
Alicia Renck
1 paper
Alyson Krokosky
1 paper
Alyssa Rosen
1 paper