Expansion of the phenotypic and mutational spectrum of Carpenter syndrome

Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk

(2019) Santosh Kumar et al.   Journal of Neurodevelopmental Disorders

Co-Occurrence of Autism Spectrum Disorder and Achondroplasia

(2019) Angel Belle Cheng Dy et al.   Frontiers in Psychiatry

Planar Cell Polarity Effector Proteins Inturned and Fuzzy Form a Rab23 GEF Complex

(2019) Andreas Gerondopoulos et al.   CURRENT BIOLOGY

Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning

(2019) Arun Prasad Pandurangan et al.   PROTEIN SCIENCE

The Significance of Halogen Bonding in Ligand–Receptor Interactions: The Lesson Learned from Molecular Dynamic Simulations of the D4 Receptor

(2019) Rafał Kurczab et al.   MOLECULES

DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability

(2018) Carlos HM Rodrigues et al.   NUCLEIC ACIDS RESEARCH

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

Targeting sonic hedgehog signaling in neurological disorders

(2017) Sita Sharan Patel et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases

(2017) Andrey Trulioff et al.   Genes

Relationships between hydrogen bonds and halogen bonds in biological systems

(2017) Rhianon K. Rowe et al.   Acta Crystallographica Section B-Structural Science Crystal Engineering and Materials

Autism Spectrum Disorders and Schizophrenia Spectrum Disorders: Excitation/Inhibition Imbalance and Developmental Trajectories

(2017) Roberto Canitano et al.   Frontiers in Psychiatry

Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly

(2014) Anna S. Victorine et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prenatal findings in carpenter syndrome and a novel mutation inRAB23

(2014) Damien Haye et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

(2012) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

(2011) Dagan Jenkins et al.   HUMAN MUTATION

RAB23mutation in a large family from Comoros Islands with Carpenter syndrome

(2010) Jean-Luc Alessandri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination

(2010) S. Balci et al.   CLINICAL GENETICS