Sirinart Molidperee

Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions

I. Villemure, S. Parent, F. Moldovan, 2019, PloS one.

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.

S. Plon, J. G. Teodoro, Philippe M. Campeau, 2019, American journal of human genetics.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

J. Gécz, S. Sisodiya, E. Lemyre, 2018, Genetics in Medicine.

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

R. Gibbs, R. Hennekam, A. Dionne‐Laporte, 2016, Journal of Human Genetics.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

J. Gécz, S. Sisodiya, E. Lemyre, 2018, Genetics in Medicine.

Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells

I. Villemure, S. Parent, F. Moldovan, 2023, Genes.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in Medicine.