Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani, +28

Cell

ChromatinGenome InstabilityGeneticsDna ReplicationChromosomal Rearrangement +2

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Lorraine Potocki, Weimin Bi, Diane Treadwell‐Deering, +17

The American Journal of Human Genetics

Neurodevelopmental DisordersAutism PhenotypePotocki-lupski SyndromePsychiatrySyndromic Autism +9

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

Lorraine Potocki, Ken-Shiung Chen, Sung Sup Park, +9

Nature Genetics

Genome InstabilityDuplication 17P11.2—GeneticsMolecular MechanismGenomic Mechanism +7

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin, +30

Cell Reports

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Claudia M.B. Carvalho, Melissa B. Ramocki, Davut Pehli̇van, +18

Nature Genetics

Natural SciencesGeneticsGenome StructureDna ReplicationMolecular Biology +9

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Ender Karaca, Stefan Weitzer, Davut Pehli̇van, +40

Cell

Affecting Both PeripheralKnockout MouseGenome InstabilityMolecular NeuroscienceGenetics +6

Increased LIS1 expression affects human and mouse brain development

Weimin Bi, Tamar Sapir, Oleg A. Shchelochkov, +22

Nature Genetics

Knockout MouseDevelopmental BiologyMolecular NeuroscienceBrain DevelopmentDegenerative Pathology +5

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

Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements

Paweł Stankiewicz, Christine J. Shaw, Jason Dapper, +6

The American Journal of Human Genetics

ChromatinNatural SciencesGeneticsGenome StructureDna Replication +4

Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

Gopalrao V.N. Velagaleti, Gabriel A. Bien‐Willner, Jill K. Northup, +6

The American Journal of Human Genetics

∼1.3 Mb DownstreamChromatinDevelopmental BiologyChromatin StructureCytogenetics +9