Stanley F Nelson

5PUBLICATIONS
38CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Molecular targetsMedical molecular engineering of nucleic acids and proteinsMedical biochemistry - amino acids and metabolitesEpigenetics (incl. genome methylation and epigenomics)
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Publications (5)

|Feb 26, 2024
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.

Shilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers

|Apr 17, 2023
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh

|Sep 19, 2022
Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue.

Deirdre D Scripture-Adams, Kevin N Chesmore, Florian Barthélémy

|Jun 02, 2022
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.

Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari

|Oct 15, 2019
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Hane Lee, Alden Y Huang, Lee-Kai Wang

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Frequent Collaborators

2 joint publications

Bruno Reversade

1 joint publications

Hane Lee

1 joint publications

Lee-Kai Wang

1 joint publications

Shirley Nieves-Rodriguez