Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho, +18

Genetics in Medicine

BioinformaticsLong-read SequencingWhole-exome SequencingGeneticsMedicine +7

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola, +82

The American Journal of Human Genetics

Unexplained Intellectual DisabilityGender-specific EffectsMendelian DisorderGenetic DisorderGenetics +8

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo, +67

Nature Communications

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet, +98

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsNephrotic Syndrome +3

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Tamar Harel, Wan Hee Yoon, Caterina Garone, +45

The American Journal of Human Genetics

Distinct Neurological SyndromesNeurodegenerative DiseasesRecurrent De NovoMitochondrial FunctionGenetics +8

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni, +45

The American Journal of Human Genetics

Signal TransductionSignaling PathwayCell RegulationFunctional DysregulationGene Expression +3

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi Tanaka, Megan T. Cho, Francisca Millan, +20

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental BiologySpata5 Are AssociatedGenetic DisorderGenetics +6

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone, +43

Nature Medicine

Amyotrophic Lateral SclerosisNeurological DisorderExcess Sphingolipid SynthesisNeurologyNeuropathology +1

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell, +37

Cell

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

Daniel J. Parente, Caryn Garriga, Berivan Baskin, +4

American Journal of Medical Genetics Part A