POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

(2018) Andrea M. Oza et al.   HUMAN MUTATION

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

(2017) Sahar Elouej et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population

(2015) Nayoung K. D. Kim et al.   GENETICS IN MEDICINE

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

(2014) Laura Valle et al.   HUMAN MOLECULAR GENETICS

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

(2013) Michael N Weedon et al.   NATURE GENETICS

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Eukaryotic DNA polymerases require an iron-sulfur cluster for the formation of active complexes

(2011) Daili J A Netz et al.   Nature Chemical Biology

A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

(2010) Savitha Shastry et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Maintaining genome stability at the replication fork

(2010) Dana Branzei et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

DNA Polymerase δ Is Required for Early Mammalian Embryogenesis

(2009) Arikuni Uchimura et al.   PLoS One