Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

Toni R. Prezant, John Agapian, Marlene C. Bohlman, +8

Nature Genetics

GeneticsPathogenesisMolecular BiologyMitochondrial MedicineMolecular Genetics +5

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel, +32

New England Journal of Medicine

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

Lina Basel‐Vanagaite, Revital Attia, Akemi Ishida‐Yamamoto, +10

The American Journal of Human Genetics

Autosomal Recessive IchthyosisMedicineGeneticsPathogenesisNatural Sciences +3

Retinopathy of Prematurity: Incidence and Risk Factors

Mordechai Shohat, Salomon H. Reisner, R. Krikler, +3

PEDIATRICS

Ocular DiseaseNeonatologyOphthalmologyPediatricsRisk +9

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Ann Saada, Rutger O. Vogel, Saskia J.G. Hoefs, +11

The American Journal of Human Genetics

Mitochondrial BiogenesisMitochondrial FunctionGeneticsMolecular BiologyMitochondrial Medicine +2

Mutated <i>nup62</i> causes autosomal recessive infantile bilateral striatal necrosis

Lina Basel‐Vanagaite, Liora Muncher, Rachel Straussberg, +11

Annals of Neurology

Candidate Locus for a Nuclear Modifier Gene for Maternally Inherited Deafness

Yelena Bykhovskaya, Xavier Estivill, Kent D. Taylor, +7

The American Journal of Human Genetics

BiologyGenetic DisorderMaternally Inherited DeafnessGeneticsAudiology +8

Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

Lina Basel‐Vanagaite, Noam Zevit, Adi Har Zahav, +16

The American Journal of Human Genetics

Metabolic SyndromeMutated Gpd1Metabolic DisorderBiochemistryLiver Physiology +11

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Lina Basel‐Vanagaite, Ofer Sarig, Dov Hershkovitz, +17

The American Journal of Human Genetics

Cutis LaxaPathologyDermatologyMacs SyndromeMedicine +2

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

Sharon Simchoni, Eitan Friedman, Bella Kaufman, +11

Proceedings of the National Academy of Sciences