The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.

Journal: Journal of intellectual disability research : JIDR

Publication Year: 2022

Authors & Co-authors:  White L K LK Crowley T B TB Finucane B B Garcia-Minaur S S Repetto G M GM van den Bree M M Fischer M M Jacquemont S S Barzilay R R Maillard A M AM

Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.

Journal: Genes

Publication Year: 2023

Authors & Co-authors:  White Lauren K LK Crowley T Blaine TB Finucane Brenda B McClellan Emily J EJ Donoghue Sarah S Garcia-Minaur Sixto S Repetto Gabriela M GM Fischer Matthias M Jacquemont Sebastien S Gur Raquel E RE

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Journal: Journal of medical genetics

Publication Year: 

Authors & Co-authors:  Lacombe Bloch-Zupan Bredrup Cooper Houge García-Miñaúr Kayserili Larizza Lopez Gonzalez Menke