Daphne J Smits

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

P. Striano, M. Fornerod, N. Brunetti‐Pierri, 2019, American journal of human genetics.

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

P. J. van der Spek, G. Mancini, A. Bertoli-Avella, 2022, Human Genetics.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

L. Hoefsloot, G. Geeven, G. Mancini, 2023, American journal of human genetics.

Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.

M. Fornerod, M. Lequin, G. Mancini, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

M. Fornerod, L. D. de Vries, A. Afenjar, 2019, American journal of human genetics.

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

H. Hakonarson, Yiran Guo, S. Sandaradura, 2023, Neurology: Genetics.

Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos

R. Willemsen, H. C. van der Linde, Wim H Quint, 2021, Disease models & mechanisms.

AJHG The American Journal of Human Genetics

M. Fornerod, A. Afenjar, R. Person, 2019 .

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Whitney J. Smith, R. Redon, J. Rosenfeld, 2022, American journal of human genetics.