Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

Inessa Grinberg, Hope Northrup, Holly H Ardinger, +3

Nature Genetics

Gene Deletion DataDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +9

An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study

Karina A. Issekutz, John M. Graham, Chitra Prasad, +2

American Journal of Medical Genetics Part A

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo, +24

The American Journal of Human Genetics

Genetic TestingDiagnostic UtilityMedicineGeneticsDna Methylation +7

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, +57

JCI Insight

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

Kevin A. Strauss, Robert N. Jinks, Erik G. Puffenberger, +19

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderNatural SciencesGeneticsDna Replication +5

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Erfan Aref‐Eshghi, Eric G. Bend, Rebecca L. Hood, +24

Nature Communications

Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder

Ajay P. Sharma, Cheryl R. Greenberg, Asuri N. Prasad, +1

Pediatric Nephrology

MedicineInherited Metabolic DiseaseHematologyHemolytic Uremic SyndromeChronic Kidney Disease

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype

Chitra Prasad, Asuri N. Prasad, Bernard N. Chodirker, +4

Clinical Genetics

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Chelsea Lowther, Marsha Speevak, Christine M. Armour, +29

Genetics in Medicine

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Sietske H. Kevelam, Marianna Bugiani, Gajja S. Salomons, +13

Brain

Cerebral AtrophyNeurological DisorderGeneticsPathologyDisease Gene Identification +16