Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death

Charles Antzelevitch, Guido D. Pollevick, Jonathan M. Cordeiro, +20

Circulation

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, +8

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderMutations CauseGenetic DisorderGenetics +6

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Jutta Becker, Oliver Semler, Christian Gilissen, +14

The American Journal of Human Genetics

SclerostinDevelopmental BiologyMendelian DisorderGenetic DisorderHuman Serpinf1 +8

Mutations in WNT1 Cause Different Forms of Bone Fragility

Katharina Keupp, Filippo Beleggia, Hülya Kayserili, +33

The American Journal of Human Genetics

Bone DiseaseBone FragilityBone Morphogenic ProteinGeneticsBone Homeostasis +2

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou, +43

Nature Genetics

BiologyPlant BiologyGeneticsPathogenesisPlant Pathology +3

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit Budde, Yasmin Namavar, P. G. Barth, +35

Nature Genetics

Genetic DisorderNatural SciencesGeneticsDna ReplicationMolecular Biology +3

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

Oliver Semler, Lutz Garbes, Katharina Keupp, +11

The American Journal of Human Genetics

Developmental BiologyGenetic DisorderMedicineGeneticsBone Remodeling +5

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, +53

Human Molecular Genetics

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan, +33

PLoS ONE

Cnv AnalysisGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +15

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Ersan Kalay, Gökhan Yigit, Yakup Aslan, +27

Nature Genetics

Genetic DisorderGeneticsSeckel SyndromeMolecular GeneticsDisease Gene Identification +3