Tiffany Busa

9PUBLICATIONS
82CO-AUTHORS
NeurogeneticsDevelopmental genetics (incl. sex determination)Cell and nuclear divisionPsychosocial aspects of childbirth and perinatal mental healthEpigenetics (incl. genome methylation and epigenomics)
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Publications (9)

|Apr 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

Mindy H Li, Deziree L Coleman, Kelsey Hogan

|Mar 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Jhih-Rong Lin, Daniella Miller, Dana Luong

|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Wallid Deb, Thomas Besnard, Florence Desprez

|Nov 17, 2023
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Guillaume Jedraszak, Florence Jobic, Aline Receveur

|Dec 27, 2019
Growth charts in Kabuki syndrome 1.

Valentin Ruault, Carole Corsini, Claire Duflos

|Sep 12, 2019
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.

Linda Mouthon, Tiffany Busa, Florence Bretelle

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Frequent Collaborators

2 joint publications

Marjolaine Willems

2 joint publications

Damien Sanlaville

2 joint publications

Bernice E Morrow

1 joint publications

Guillaume Jedraszak