Publications
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 ;94(5):784-9.
. Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35. Stand Genomic Sci. 2014 ;9(3):744-54.
. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 ;159(1):200-214.
. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 ;16(5):386-394.
. Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Res. 2014 ;24(11):1740-50.
. The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima. PLoS Biol. 2014 ;12(11):e1002005.
. Gibbon genome and the fast karyotype evolution of small apes. Nature. 2014 ;513(7517):195-201.
. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 ;10(3):e1004258.
. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 ;157(3):636-50.
. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014 ;15:30.
. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature. 2014 ;508(7497):494-9.
. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 ;94(6):915-23.
. Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clin Cancer Res. 2014 ;20(24):6582-92.
. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 ;95(5):579-83.
. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood. 2014 ;124(19):3007-15.
. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Res. 2014 ;24(7):1193-208.
. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 ;23(21):5774-80.
. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 ;111(31):11473-8.
. Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014 ;511(7508):241-5.
. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 ;94(2):303-9.
. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 ;95(1):96-107.
. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 ;94(5):745-54.
. The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera. Leukemia. 2014 ;28(4):938-41.
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