Fabiola Quintero-Rivera

7PUBLICATIONS
32CO-AUTHORS
Gene mappingMiddle Eastern languagesEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesInfant and child health
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Publications (7)

|Mar 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Sarah E Sheppard, Ian M Campbell, Margaret H Harr

|Feb 26, 2021
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.

Celeste C Eno, Jesper Graakjaer, Dea Svaneby

|Jan 03, 2021
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.

Fabiola Quintero-Rivera, Celeste C Eno, Christine Sutanto

|Dec 28, 2020
Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.

Nathan Kopp, Ina Amarillo, Julian Martinez-Agosto

|Jul 15, 2020
The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service.

Aaron D Besterman, Joshua Sadik, Michael J Enenbach

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Frequent Collaborators

4 joint publications

Julian Martinez-Agosto

2 joint publications

Celeste C Eno

1 joint publications

Aaron D Besterman

1 joint publications

Fuki M Hisama