Diagnostic utility of telomere length testing in a hospital-based setting

Jonathan K. Alder, Vidya Sagar Hanumanthu, Margaret A. Strong, +12

Proceedings of the National Academy of Sciences

Loss-of-function mutations in the RNA biogenesis factor <i>NAF1</i> predispose to pulmonary fibrosis–emphysema

Susan E. Stanley, Dustin L. Gable, Christa L. Wagner, +11

Science Translational Medicine

Advanced Lung DiseaseLung InflammationGeneticsGenomic MechanismPulmonary Alveolar Proteinosis +15

Short telomere syndromes cause a primary T cell immunodeficiency

Christa L. Wagner, Vidya Sagar Hanumanthu, C. Conover Talbot, +11

Journal of Clinical Investigation

Lymphocyte DevelopmentImmunodeficienciesT-regulatory CellImmunologyPathology +17

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N. Bainbridge, +32

Genetics in Medicine

Developmental AnomalyUrologyMendelian DisorderUrinary TractWhole-exome Sequencing +9

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin, +28

Brain

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Volkan Okur, Megan T. Cho, Lindsay B. Henderson, +17

Human Genetics

Neurodevelopmental DisordersDevelopmental AnomalyDevelopmental BiologyGenetic DisorderNeurodevelopmental Abnormalities +9

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai, +77

Genetics in Medicine

Neurodevelopmental DisordersSyndromic AutismMedicineGeneticsGenetic Disorder +11

The impact of chromosomal microarray on clinical management: a retrospective analysis

Lindsay B. Henderson, Carolyn Applegate, Elizabeth Wohler, +3

Genetics in Medicine

Clinical ManagementCytogeneticsMedicineGeneticsDna Microarrays +8

<i>KIF5A</i> mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

Jessica Duis, Shannon L. Dean, Carolyn Applegate, +9

Annals of Neurology

NeurogenomicsBrain DevelopmentMitochondrial DysfunctionGeneticsInfantile Onset Phenotype +20

Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability

Genay Pilarowski, Hilary J. Vernon, Carolyn Applegate, +16

Journal of Medical Genetics