Colleen M. Carlston

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Lora Jh Bean, Birgit Funke, Colleen M. Carlston et al. · Genetics in Medicine · 2019 · 152 citations · Full text

Technical Standard, Dna Sequencing, Medicine +11

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Bobby G. Ng, Paulina Sosicka, Satish Agadi et al. · Human Mutation · 2019 · 62 citations · Full text

Immunology, Glycobiology, Molecular Biology +25

The spectrum of <i>DNMT3A</i> variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies

Wei Shen, Jennifer Heeley, Colleen M. Carlston et al. · American Journal of Medical Genetics Part A · 2017 · 48 citations

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Lindsay C. Burrage, John J. Reynolds, Nissan Baratang et al. · The American Journal of Human Genetics · 2019 · 34 citations · Full text

Allelic Variant, Genetic Disorder, Genetics +8

Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome

Colleen M. Carlston, Steven B. Bleyl, Ashley Andrews et al. · American Journal of Medical Genetics Part A · 2019 · 31 citations