Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier, Christelle Golzio, Bo Xiong, +31

Cell

Neurodevelopmental DisordersDevelopmental BiologyAutism EarlySyndromic AutismGenetics +9

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin, +30

Cell Reports

Missense mutations in<i>TENM4</i>, a regulator of axon guidance and central myelination, cause essential tremor

Hyun Hor, Ludmila Francescatto, Luca Bartesaghi, +21

Human Molecular Genetics

Missense MutationsMotor Control DisordersNeurological DisorderGeneticsCentral Myelination +19

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Michael Zech, Daniel D. Lam, Ludmila Francescatto, +12

The American Journal of Human Genetics

GeneticsPathologyDegenerative DiseaseRecessive MutationsMedicine +1

Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

Elena Bonora, Francesca Bianco, Lina Cordeddu, +23

Gastroenterology

Chronic Intestinal Pseudo-obstructionGastroenterologyPathologyClinical GastroenterologyGastrointestinal Pathology +5

Functionally compromised <i>CHD7</i> alleles in patients with isolated GnRH deficiency

Ravikumar Balasubramanian, Jin‐Ho Choi, Ludmila Francescatto, +16

Proceedings of the National Academy of Sciences

The activation of membrane targeted CaMK-II in the zebrafish Kupffer's vesicle is required for left-right asymmetry

Ludmila Francescatto, Sarah C. Rothschild, Alexandra L. Myers, +1

Development

CytoskeletonCellular PhysiologyIntracellular Calcium IonSignaling PathwayReceptor Tyrosine Kinase +15

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan, +34

The American Journal of Human Genetics

Bone FragilityMendelian DisorderGenetic DisorderGeneticsPathogenesis +8

A human laterality disorder caused by a homozygous deleterious mutation in <i>MMP21</i>

Zeev Perles, Sungjin Moon, Asaf Ta‐Shma, +6

Journal of Medical Genetics

Tbx5-mediated expression of Ca2+/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis

Sarah C. Rothschild, Charles A. Easley, Ludmila Francescatto, +3

Developmental Biology

Tbx5-mediated ExpressionCardiac MuscleMolecular PhysiologyDevelopmental BiologySignal Transduction +11