Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

Eric M. Morrow, Seung-Yun Yoo, Steven W. Flavell, +22

Science

GeneticsGenetic EpidemiologyGenomicsAutism LociGenome-wide Association Study +14

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

Jun Shen, Edward C. Gilmore, Christine A Marshall, +15

Nature Genetics

Genome InstabilityGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification +5

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, +7

The American Journal of Human Genetics

Trappc9 IsDevelopmental BiologyMendelian DisorderAutosomal-recessive Intellectual DisabilityGenetic Disorder +8

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Ganeshwaran H. Mochida, Vijay Ganesh, Jillian M. Felie, +12

The American Journal of Human Genetics

OphthalmologyGenetic DisorderMedicineHomozygous MutationSubependymal Calcification +5

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Ganeshwaran H. Mochida, Vijay Ganesh, María I. de Michelena, +18

Nature Genetics

Signal TransductionDevelopmental BiologySynaptic SignalingMolecular RegulationGenetics +6

CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

M. Chiara Manzini, Lan Xiong, Ranad Shaheen, +18

Cell Reports

Brain DevelopmentImmunologyNeurochemical BiomarkersNf-κb Signaling HomeostasisCc2d1a Gene +22

Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East

M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, +14

Human Mutation

Developmental and degenerative features in a complicated spastic paraplegia

M. Chiara Manzini, Anna Rajab, Thomas M. Maynard, +11

Annals of Neurology

Candidate gene sequencing of <i>LHX2</i>, <i>HESX1</i>, and <i>SOX2</i> in a large schizencephaly cohort

Cecília Mellado, Annapurna Poduri, Danielle Gleason, +7

American Journal of Medical Genetics Part A

Opioid Avoidance in Liver Transplant Recipients: Reduction in Postoperative Opioid Use Through a Multidisciplinary Multimodal Approach

Heather L. Kutzler, Richard Gannon, William Nolan, +12

Liver Transplantation