Quantitative Dynamics of Chromatin Remodeling during Germ Cell Specification from Mouse Embryonic Stem Cells

Kazuki Kurimoto, Yukihiro Yabuta, Katsuhiko Hayashi, +10

Cell stem cell

Germ Cell BiologyChromatinQuantitative DynamicsEmbryonic Stem CellDevelopmental Biology +12

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, +44

The American Journal of Human Genetics

Neurodevelopmental DisordersNeurological DisorderGenetic DisorderPediatricsHigh Prevalence +8

Exome variant discrepancies due to reference-genome differences

Li He, Moez Dawood, Michael M. Khayat, +10

The American Journal of Human Genetics

Allelic VariantExome Variant DiscrepanciesGeneticsGenome AnalysisGenetic Variation +3

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Caroline Dias, Jaya Punetha, Céline Zheng, +40

The American Journal of Human Genetics

Brain DevelopmentExome SequencingSynaptic TransmissionGeneticsDisease Gene Identification +15

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, +30

Brain

Vesicular TransportMendelian DisorderGenetic DisorderTrapp ComplexGenetics +12

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang, +65

The American Journal of Human Genetics

Neurodegenerative DiseasesDevelopmental BiologyMendelian DisorderGenetic DisorderMonoallelic Variation +8

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Gabriel C. Dworschak, Jaya Punetha, Jeshurun C. Kalanithy, +63

Genetics in Medicine

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Tadahiro Mitani, Jaya Punetha, İbrahim Akalın, +32

The American Journal of Human Genetics

Tubgcp2 Cause MicrocephalyAllelic VariantLissencephaly Spectrum DisordersBi-allelic Pathogenic VariantsDisease Mechanism +10

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

Biallelic <i>GRM7</i> variants cause epilepsy, microcephaly, and cerebral atrophy

Dana Marafi, Tadahiro Mitani, Sedat Işıkay, +21

Annals of Clinical and Translational Neurology