Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy

Angela Lek, Brenda Wong, Allison M. Keeler, +22

New England Journal of Medicine

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch, +107

The Lancet Neurology

Mendelian DisorderGenetic DisorderGeneticsNeuroscienceMonogenic Variants +1

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger, +86

New England Journal of Medicine

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, +25

Genome Medicine

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

David B. Beck, Ana Petracovici, Chongsheng He, +29

The American Journal of Human Genetics

ChromatinMendelian DisorderGenetic DisorderNatural SciencesGenetics +10

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

Wei Liu, Sander Pajusalu, Nicole J. Lake, +9

Genetics in Medicine

EpidemiologyMedicineGenetic EpidemiologyDiagnosisLimb-girdle Muscular Dystrophy +5

Biallelic <i>CACNA1A</i> mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Karit Reinson, Eve Õiglane‐Shlik, Inga Talvik, +11

American Journal of Medical Genetics Part A

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart, Xénia Latypova, Paul Rollier, +55

The American Journal of Human Genetics

Molecular NeuroscienceNeurological DisorderGenetic DisorderGeneticsSyndromic Autism +11

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

Jasmine Lee Fong Fung, Mullin H.C. Yu, Shushu Huang, +9

npj Genomic Medicine

Diffuse hypomyelination is not obligate for POLR3-related disorders

Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran, +17

Neurology