A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Flore Zufferey, Elliott H. Sherr, Noam D. Beckmann, +32

Journal of Medical Genetics

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Debra D’Angelo, Sébastien Lebon, Qixuan Chen, +50

JAMA Psychiatry

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Katrin Männik, Reedik Mägi, Aurélien Macé, +24

JAMA

Novel lipoarabinomannan point-of-care tuberculosis test for people with HIV: a diagnostic accuracy study

Tobias Broger, Bianca Sossen, Elloise du Toit, +15

The Lancet Infectious Diseases

A prospective multicentre diagnostic accuracy study for the Truenat tuberculosis assays

Adam Penn‐Nicholson, Sivaramakrishnan N. Gomathi, César Ugarte‐Gil, +20

European Respiratory Journal

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

Loyse Hippolyte, Anne Maillard, Borja Rodríguez‐Herreros, +29

Biological Psychiatry

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

Armand Valsesia, Aurélien Macé, Sébastien Jacquemont, +2

Frontiers in Genetics

Cnv AnalysisClinical InterpretationEngineeringGeneticsDiagnosis +21

The accuracy of novel antigen rapid diagnostics for SARS-CoV-2: a living systematic review and meta-analysis

Lukas E. Brümmer, Stephan Katzenschlager, Mary Gaeddert, +12

Viral DiagnosticsImmunodeficienciesImmunologyPathologyQuadas 2 +19

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Eugenia Migliavacca, Christelle Golzio, Katrin Männik, +70

The American Journal of Human Genetics

Clinical DisordersCiliary DysfunctionDisease PathophysiologyExperimental PathologyPathology +5

Whole-genome and targeted sequencing of drug-resistant Mycobacterium tuberculosis on the iSeq100 and MiSeq: A performance, ease-of-use, and cost evaluation

Rebecca E. Colman, Aurélien Macé, Marva Seifert, +9

PLoS Medicine