The role of <i><scp>SLC</scp>2A1</i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp>1 deficiency syndrome

Jan Larsen, Katrine M. Johannesen, Jakob Ek, +23

Epilepsia

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

A‐M. Bisgaard, M. Kirchhoff, JE Nielsen, +4

Clinical Genetics

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, +39

The American Journal of Human Genetics

Developmental AnomalyMosaic VariantsDevelopmental BiologyDysplasiaPrkacb Cause +7

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A&gt;G mutation that causes exon skipping

P. P. Madsen, Maria Kibæk, Xavier Roca, +11

Human Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseMolecular Biology +5

Is MED13L-related intellectual disability a recognizable syndrome?

Pernille Mathiesen Tørring, Martin J. Larsen, Charlotte Brasch‐Andersen, +15

European Journal of Medical Genetics

Intellectual ImpairmentNeuropsychologyPsychiatryDisabilityEducation +4

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration

Christina Fagerberg, Adrian Taylor, Felix Distelmaier, +17

Brain

NeurogenomicsNew TypeNeurological DisorderGeneticsPathology +24

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud, Eric Chater‐Diehl, Benjamin Durand, +67

Genetics in Medicine

Neurodevelopmental DisordersDevelopmental BiologyMolecular NeuroscienceGenetic DisorderGenetics +9

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, +114

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental BiologyMolecular NeuroscienceGenetic DisorderNeuroscience +8

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

Dóra Nagy, Sarah Verheyen, Kristen Wigby, +19

Genes

Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

Marcella Cesana, Lorenzo Vaccaro, Martin J. Larsen, +11

Human Genetics