The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients

ADAT3-related intellectual disability: Further delineation of the phenotype

(2016) Ayman W. El-Hattab et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

(2016) Mohamed Abouelhoda et al.   GENETICS IN MEDICINE

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

(2014) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital microcephaly

(2014) Diana Alcantara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Genomic analysis of primordial dwarfism reveals novel disease genes

(2014) R. Shaheen et al.   GENOME RESEARCH

Role of tRNA modifications in human diseases

(2014) Adrian Gabriel Torres et al.   TRENDS IN MOLECULAR MEDICINE

Investigating microcephaly

(2013) C. G. Woods et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Mutation inADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

(2013) Anas M Alazami et al.   JOURNAL OF MEDICAL GENETICS

Biosynthesis and Function of Posttranscriptional Modifications of Transfer RNAs

(2012) Basma El Yacoubi et al.   Annual Review of Genetics

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Mechanistic characterization of the sulfur-relay system for eukaryotic 2-thiouridine biogenesis at tRNA wobble positions

(2009) Akiko Noma et al.   NUCLEIC ACIDS RESEARCH

Primary microcephaly: do all roads lead to Rome?

(2009) Gemma K. Thornton et al.   TRENDS IN GENETICS

The conserved Wobble uridine tRNA thiolase Ctu1-Ctu2 is required to maintain genome integrity

(2008) M. Dewez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA