Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, +62

Nature Communications

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, +76

Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology +5

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

Hiromi Aoi, Takeshi Mizuguchi, José Ricard Magliocco Ceroni, +19

Journal of Human Genetics

Comprehensive Genetic AnalysisMendelian DisorderGenetic DisorderGeneticsLange Syndrome +6

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, +24

Genome Medicine

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Reem Al‐Jawahiri, Aidin Foroutan, Jennifer Kerkhof, +110

Genetics in Medicine

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, +61

Human Mutation

Efficient DetectionExome SequencingGeneticsGenomicsHigh Throughput Sequencing +17

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Ken Saida, Reza Maroofian, Toru Sengoku, +84

Genetics in Medicine

Neurodegenerative DiseasesPsychiatryHomozygous Slc18a2 VariantsNeurological DisorderNeuropharmacology +6

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

Masamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, +14

Journal of Human Genetics

Novel Exosc9 VariantsNeurodegenerative DiseasesCerebellar AtrophySpinal Cord InjuryNeurological Disorder +9

Pathogenic variants in the survival of motor neurons complex gene <scp> <i>GEMIN5</i> </scp> cause cerebellar atrophy

Ken Saida, Junya Tamaoki, Masayuki Sasaki, +17

Clinical Genetics

A homozygous NOP14 variant is likely to cause recurrent pregnancy loss

Toshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, +12

Journal of Human Genetics

Homozygous Nop14 VariantInfertilityFertilityGenetic DisorderGenetics +9