@article {732,
	title = {The Genetic Landscape of Diamond-Blackfan Anemia.},
	journal = {Am J Hum Genet},
	volume = {104},
	year = {2019},
	month = {2019 Feb 07},
	pages = {356},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2018.12.011},
	author = {Ulirsch, Jacob C and Verboon, Jeffrey M and Kazerounian, Shideh and Guo, Michael H and Yuan, Daniel and Ludwig, Leif S and Handsaker, Robert E and Abdulhay, Nour J and Fiorini, Claudia and Genovese, Giulio and Lim, Elaine T and Cheng, Aaron and Cummings, Beryl B and Chao, Katherine R and Beggs, Alan H and Genetti, Casie A and Sieff, Colin A and Newburger, Peter E and Niewiadomska, Edyta and Matysiak, Michal and Vlachos, Adrianna and Lipton, Jeffrey M and Atsidaftos, Eva and Glader, Bertil and Narla, Anupama and Gleizes, Pierre-Emmanuel and O{\textquoteright}Donohue, Marie-Fran{\c c}oise and Montel-Lehry, Nathalie and Amor, David J and McCarroll, Steven A and O{\textquoteright}Donnell-Luria, Anne H and Gupta, Namrata and Gabriel, Stacey B and MacArthur, Daniel G and Lander, Eric S and Lek, Monkol and Da Costa, Lydie and Nathan, David G and Korostelev, Andrei A and Do, Ron and Sankaran, Vijay G and Gazda, Hanna T}
}
@article {578,
	title = {The Genetic Landscape of Diamond-Blackfan Anemia.},
	journal = {Am J Hum Genet},
	volume = {103},
	year = {2018},
	month = {2018 12 06},
	pages = {930-947},
	abstract = {<p>Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of 1,000,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this heterogeneous disorder, we recruited a cohort of 472 individuals with a clinical diagnosis of DBA and performed whole-exome sequencing (WES). We identified relevant rare and predicted damaging mutations for 78\% of individuals. The majority of mutations were singletons, absent from population databases, predicted to cause loss of function, and located in 1 of 19 previously reported ribosomal protein (RP)-encoding genes. Using exon coverage estimates, we identified and validated 31 deletions in RP genes. We also observed an enrichment for extended splice site mutations and validated their diverse effects using RNA sequencing in cell lines obtained from individuals with DBA. Leveraging the size of our cohort, we observed robust genotype-phenotype associations with congenital abnormalities and treatment outcomes. We further identified rare mutations in seven previously unreported RP genes that may cause DBA, as well as several distinct disorders that appear to phenocopy DBA, including nine individuals with biallelic CECR1 mutations that result in deficiency of ADA2. However, no new genes were identified at exome-wide significance, suggesting that there are no unidentified genes containing mutations readily identified by WES that explain >5\% of DBA-affected case subjects. Overall, this report should inform not only clinical practice for DBA-affected individuals, but also the design and analysis of rare variant studies for heterogeneous Mendelian disorders.</p>},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2018.10.027},
	author = {Ulirsch, Jacob C and Verboon, Jeffrey M and Kazerounian, Shideh and Guo, Michael H and Yuan, Daniel and Ludwig, Leif S and Handsaker, Robert E and Abdulhay, Nour J and Fiorini, Claudia and Genovese, Giulio and Lim, Elaine T and Cheng, Aaron and Cummings, Beryl B and Chao, Katherine R and Beggs, Alan H and Genetti, Casie A and Sieff, Colin A and Newburger, Peter E and Niewiadomska, Edyta and Matysiak, Michal and Vlachos, Adrianna and Lipton, Jeffrey M and Atsidaftos, Eva and Glader, Bertil and Narla, Anupama and Gleizes, Pierre-Emmanuel and O{\textquoteright}Donohue, Marie-Fran{\c c}oise and Montel-Lehry, Nathalie and Amor, David J and McCarroll, Steven A and O{\textquoteright}Donnell-Luria, Anne H and Gupta, Namrata and Gabriel, Stacey B and MacArthur, Daniel G and Lander, Eric S and Lek, Monkol and Da Costa, Lydie and Nathan, David G and Korostelev, Andrei A and Do, Ron and Sankaran, Vijay G and Gazda, Hanna T}
}
@article {489,
	title = {Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.},
	journal = {Nature},
	volume = {559},
	year = {2018},
	month = {2018 07},
	pages = {350-355},
	abstract = {<p>The selective pressures that shape clonal evolution in healthy individuals are largely unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50~kb to 249~Mb long, that we uncovered in blood-derived DNA from 151,202 UK Biobank participants using phase-based computational techniques (estimated false discovery rate, 6-9\%). We found six loci at which inherited variants associated strongly with the acquisition of deletions or loss of heterozygosity in cis. At three such loci (MPL, TM2D3-TARSL2, and FRA10B), we identified a likely causal variant that acted with high penetrance (5-50\%). Inherited alleles at one locus appeared to affect the probability of somatic mutation, and at three other loci to be objects of positive or negative clonal selection. Several specific mosaic chromosomal alterations were strongly associated with future haematological malignancies. Our results reveal a multitude of paths towards clonal expansions with a wide range of effects on human health.</p>},
	keywords = {Adult, Aged, Alleles, Biological Specimen Banks, Chromosome Aberrations, Chromosome Breakage, Chromosome Fragile Sites, Chromosomes, Human, Pair 10, Clone Cells, Female, Health, Hematologic Neoplasms, Hematopoiesis, Humans, Male, Middle Aged, Mosaicism, Penetrance, United Kingdom},
	issn = {1476-4687},
	doi = {10.1038/s41586-018-0321-x},
	author = {Loh, Po-Ru and Genovese, Giulio and Handsaker, Robert E and Finucane, Hilary K and Reshef, Yakir A and Palamara, Pier Francesco and Birmann, Brenda M and Talkowski, Michael E and Bakhoum, Samuel F and McCarroll, Steven A and Price, Alkes L}
}
