Search

Your search keyword '"Baker, Carl"' showing total 728 results
Start Over Author "Baker, Carl"
728 results on '"Baker, Carl"'

151. The NIH human microbiome project

Author

Peterson, Jane, Garges, Susan, Giovanni, Maria, McInnes, Pamela, Lu Wang, Schloss, Jeffery A., Bonazzi, Vivien, McEwen, Jean E., Wetterstrand, Kris A., Deal, Carolyn, Baker, Carl C., Francesco, Valentina Di, Howcroft, T. Kevin, Karp, Robert W., Lunsford, R. Dwayne, Wellington, Christopher R., Belachew, Tsegahiwot, Wright, Michael, Giblin, Christina, David, Hagit, Mills, Melody, Salomon, Rachelle, Mullins, Christopher, Akolkar, Beena, Begg, Lisa, Davis, Cindy, Grandison, Lindsey, Humble, Michael, Khalsa, Jag, Little, A. Roger, Peavy, Hannah, Pontzer, Carol, Portnoy, Matthew, Sayre, Michael H., Starke-Reed, Pamela, Zakhari, Samir, Read, Jennifer, Watson, Bracie, and Guyer, Mark

Subjects
United States. National Institutes of Health -- Management, Human genome -- Research, Nucleotide sequencing -- Usage, Microbiological research, Company business management, Health
Published
2009

152. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Author

Mefford, Heather C., Cooper, Gregory M., Zerr, Troy, Smith, Joshua D., Baker, Carl, Shafer, Neil, Thorland, Erik C., Skinner, Cindy, Schwartz, Charles E., Nickerson, Deborah A., and Eichler, Evan E.

Subjects
Autism -- Genetic aspects, Autism -- Physiological aspects, Single nucleotide polymorphisms -- Analysis, Genetic variation -- Research, Nervous system -- Degeneration, Nervous system -- Genetic aspects, Nervous system -- Physiological aspects, Health
Published
2009

153. Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

Author

Mohajeri, Kiana, primary, Cantsilieris, Stuart, additional, Huddleston, John, additional, Nelson, Bradley J., additional, Coe, Bradley P., additional, Campbell, Catarina D., additional, Baker, Carl, additional, Harshman, Lana, additional, Munson, Katherine M., additional, Kronenberg, Zev N., additional, Kremitzki, Milinn, additional, Raja, Archana, additional, Catacchio, Claudia Rita, additional, Graves, Tina A., additional, Wilson, Richard K., additional, Ventura, Mario, additional, and Eichler, Evan E., additional

Published
2016
Full Text
View/download PDF

154. High-Quality Assembly of an Individual of Yoruban Descent

Author

Steinberg, Karyn Meltz, primary, Lindsay, Tina Graves, additional, Schneider, Valerie A., additional, Chaisson, Mark J.P., additional, Tomlinson, Chad, additional, Huddleston, John, additional, Minx, Patrick, additional, Kremitzki, Milinn, additional, Albrecht, Derek, additional, Magrini, Vincent, additional, McGrath, Sean, additional, Raja, Archana, additional, Baker, Carl, additional, Harshman, Lana, additional, Hillier, LaDeana W., additional, Thibaud-Nissen, Françoise, additional, Bouk, Nathan, additional, Ly, Amy, additional, Amemiya, Chris, additional, Tang, Joyce, additional, Eichler, Evan E., additional, Fulton, Robert S., additional, Warren, Wesley C., additional, Church, Deanna M., additional, and Wilson, Richard K., additional

Published
2016
Full Text
View/download PDF

157. Five-Year Outcomes of Panretinal Photocoagulation vs Intravitreous Ranibizumab for Proliferative Diabetic Retinopathy: A Randomized Clinical Trial.

Author

Gross, Jeffrey G., Glassman, Adam R., Liu, Danni, Sun, Jennifer K., Antoszyk, Andrew N., Baker, Carl W., Bressler, Neil M., Elman, Michael J., Ferris III, Frederick L., Gardner, Thomas W., Jampol, Lee M., Martin, Daniel F., Melia, Michele, Stockdale, Cynthia R., Beck, Roy W., Ferris, Frederick L 3rd, and Diabetic Retinopathy Clinical Research Network

Published
2018
Full Text
View/download PDF

160. Excess of rare, inherited truncating mutations in autism

Author

Krumm, Niklas, primary, Turner, Tychele N, additional, Baker, Carl, additional, Vives, Laura, additional, Mohajeri, Kiana, additional, Witherspoon, Kali, additional, Raja, Archana, additional, Coe, Bradley P, additional, Stessman, Holly A, additional, He, Zong-Xiao, additional, Leal, Suzanne M, additional, Bernier, Raphael, additional, and Eichler, Evan E, additional

Published
2015
Full Text
View/download PDF

162. A Burst of Segmental Duplications in the African Great Ape Ancestor

Author

Marques-Bonet, Tomas, Kidd, Jeffrey M., Ventura, Mario, Graves, Tina A., Cheng, Ze, Hillier, LaDeanna W., Jiang, Zhaoshi, Baker, Carl, Malfavon-Borja, Ray, Fulton, Lucinda A., Alkan, Can, Aksay, Gozde, Girirajan, Santhosh, Siswara, Priscillia, Chen, Lin, Cardone, Maria Francesca, Navarro, Arcadi, Mardis, Elaine R., Wilson, Richard K., and Eichler, Evan E.

Subjects
Evolution, Molecular, Genome, Polymorphism, Genetic, Gene Duplication, Africa, Catarrhini, Animals, Chromosome Mapping, Humans, Reproducibility of Results, Article
Abstract

It is generally accepted that the extent of phenotypic change between human and great apes is dissonant with the rate of molecular change. Between these two groups, proteins are virtually identical, cytogenetically there are few rearrangements that distinguish ape-human chromosomes, and rates of single-base-pair change and retrotransposon activity have slowed particularly within hominid lineages when compared to rodents or monkeys. Studies of gene family evolution indicate that gene loss and gain are enriched within the primate lineage. Here, we perform a systematic analysis of duplication content of four primate genomes (macaque, orang-utan, chimpanzee and human) in an effort to understand the pattern and rates of genomic duplication during hominid evolution. We find that the ancestral branch leading to human and African great apes shows the most significant increase in duplication activity both in terms of base pairs and in terms of events. This duplication acceleration within the ancestral species is significant when compared to lineage-specific rate estimates even after accounting for copy-number polymorphism and homoplasy. We discover striking examples of recurrent and independent gene-containing duplications within the gorilla and chimpanzee that are absent in the human lineage. Our results suggest that the evolutionary properties of copy-number mutation differ significantly from other forms of genetic mutation and, in contrast to the hominid slowdown of single-base-pair mutations, there has been a genomic burst of duplication activity at this period during human evolution.

Published
2009

165. An Absolutist Theory of Faultless Disagreement in Aesthetics.

Author

Baker, Carl and Robson, Jon

Subjects
*AESTHETICS, *ETHICAL absolutism, *SEMANTICS, *PHILOSOPHICAL analysis, *EPISTEMIC logic
Abstract

Some philosophers writing on the possibility of faultless disagreement have argued that the only way to account for the intuition that there could be disagreements which are faultless in every sense is to accept a relativistic semantics. In this article we demonstrate that this view is mistaken by constructing an absolutist semantics for a particular domain - aesthetic discourse - which allows for the possibility of genuinely faultless disagreements. We argue that this position (Humean absolutism) is an improvement over previous absolutist responses to the relativist's challenge and that it presents an independently plausible account of the semantics of aesthetic discourse. [ABSTRACT FROM AUTHOR]

Published
2017
Full Text
View/download PDF

166. PHILIPPINE FOLLIES.

Author

SIMON, SHELDON and BAKER, CARL

Subjects
PHILIPPINES-United States relations, MILITARY relations
Abstract

The rather bizarre behavior of Philippine President Rodrigo Duterte dominated the news in late 2016. The former Davao mayor displayed his well-known anti-US feelings while aggressively pursuing his allegedly extrajudicial campaign against Philippine drug trafficking. Duterte's invective ran the gamut from accusations that the US still treated the Philippines as a colony to a vulgar epithet directed at President Obama. There were also threats to end all bilateral military exercises and to terminate bilateral defense agreements. Philippine officials tried to soften Duterte's remarks and US officials offered reassurances that the US would remain a reliable defense partner and planned to continue providing military assistance. Elsewhere, the US continued to focus attention on maritime security while avoiding direct involvement in the emerging controversy over treatment of the Muslim population in Rakine State, Myanmar. [ABSTRACT FROM AUTHOR]

Published
2017

167. Refining analyses of copy number variation identifies specific genes associated with developmental delay

Author

Coe, Bradley P, primary, Witherspoon, Kali, additional, Rosenfeld, Jill A, additional, van Bon, Bregje W M, additional, Vulto-van Silfhout, Anneke T, additional, Bosco, Paolo, additional, Friend, Kathryn L, additional, Baker, Carl, additional, Buono, Serafino, additional, Vissers, Lisenka E L M, additional, Schuurs-Hoeijmakers, Janneke H, additional, Hoischen, Alex, additional, Pfundt, Rolph, additional, Krumm, Nik, additional, Carvill, Gemma L, additional, Li, Deana, additional, Amaral, David, additional, Brown, Natasha, additional, Lockhart, Paul J, additional, Scheffer, Ingrid E, additional, Alberti, Antonino, additional, Shaw, Marie, additional, Pettinato, Rosa, additional, Tervo, Raymond, additional, de Leeuw, Nicole, additional, Reijnders, Margot R F, additional, Torchia, Beth S, additional, Peeters, Hilde, additional, Thompson, Elizabeth, additional, O'Roak, Brian J, additional, Fichera, Marco, additional, Hehir-Kwa, Jayne Y, additional, Shendure, Jay, additional, Mefford, Heather C, additional, Haan, Eric, additional, Gécz, Jozef, additional, de Vries, Bert B A, additional, Romano, Corrado, additional, and Eichler, Evan E, additional

Published
2014
Full Text
View/download PDF

168. Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Author

Bernier, Raphael, primary, Golzio, Christelle, additional, Xiong, Bo, additional, Stessman, Holly A., additional, Coe, Bradley P., additional, Penn, Osnat, additional, Witherspoon, Kali, additional, Gerdts, Jennifer, additional, Baker, Carl, additional, Vulto-van Silfhout, Anneke T., additional, Schuurs-Hoeijmakers, Janneke H., additional, Fichera, Marco, additional, Bosco, Paolo, additional, Buono, Serafino, additional, Alberti, Antonino, additional, Failla, Pinella, additional, Peeters, Hilde, additional, Steyaert, Jean, additional, Vissers, Lisenka E.L.M., additional, Francescatto, Ludmila, additional, Mefford, Heather C., additional, Rosenfeld, Jill A., additional, Bakken, Trygve, additional, O’Roak, Brian J., additional, Pawlus, Matthew, additional, Moon, Randall, additional, Shendure, Jay, additional, Amaral, David G., additional, Lein, Ed, additional, Rankin, Julia, additional, Romano, Corrado, additional, de Vries, Bert B.A., additional, Katsanis, Nicholas, additional, and Eichler, Evan E., additional

Published
2014
Full Text
View/download PDF

169. Wear abatement strategies for capital equipment

Author

Baker, Carl

Subjects
Alloys, Engineering and manufacturing industries, Metals, metalworking and machinery industries
Abstract

The machining industry, like many other manufacturing market segments, has been forced to scrutinize capital equipment purchases in an effort to squeeze the most from a tight capital project budget [...]

Published
2011

170. Down under and in between : Australian security perspectives in the 'Asian Century'

Author

Baker, Carl W., Glosserman, Brad, Chubb, Danielle, Baker, Carl W., Glosserman, Brad, and Chubb, Danielle

Abstract

This chapter will provide an overview of Australian perspectives on the US alliance in light of ongoing and emerging challenges in the Asia-Pacific region. After a brief discussion of the motivations behind the signing of the ANZUS treaty, the first part of the chapter examines the historical context of the alliance, with a particular focus on the longstanding and ongoing tussle in Australia between independence in foreign policy making vis-à-vis broader structural constraints. While this debate has been a constant feature of the political scene in Australia, it has come into particular focus since the US withdrawal from Vietnam, which marked a turning point in Australian perspectives with regard to its own role in Asia. The collision of ideas surrounding Australian identity and Australian national interest has been reflected in policy approaches as successive governments have sought to strike a balance between the two exigencies and thus, most optimally ensure Australia’s strategic future. The chapter concludes by examining current perspectives through the lens of an ongoing debate taking place in Australian academic circles about what the rise of China means for Australia and its commitment to the US alliance, and considers options for caucus-style cooperation with fellow US allies beyond the hub-and-spokes model.

Published
2013

171. Rates and patterns of great ape retrotransposition.

Author

Hormozdiari, Fereydoun, Hormozdiari, Fereydoun, Konkel, Miriam K, Prado-Martinez, Javier, Chiatante, Giorgia, Herraez, Irene Hernando, Walker, Jerilyn A, Nelson, Benjamin, Alkan, Can, Sudmant, Peter H, Huddleston, John, Catacchio, Claudia R, Ko, Arthur, Malig, Maika, Baker, Carl, Great Ape Genome Project, Marques-Bonet, Tomas, Ventura, Mario, Batzer, Mark A, Eichler, Evan E, Hormozdiari, Fereydoun, Hormozdiari, Fereydoun, Konkel, Miriam K, Prado-Martinez, Javier, Chiatante, Giorgia, Herraez, Irene Hernando, Walker, Jerilyn A, Nelson, Benjamin, Alkan, Can, Sudmant, Peter H, Huddleston, John, Catacchio, Claudia R, Ko, Arthur, Malig, Maika, Baker, Carl, Great Ape Genome Project, Marques-Bonet, Tomas, Ventura, Mario, Batzer, Mark A, and Eichler, Evan E

Abstract

We analyzed 83 fully sequenced great ape genomes for mobile element insertions, predicting a total of 49,452 fixed and polymorphic Alu and long interspersed element 1 (L1) insertions not present in the human reference assembly and assigning each retrotransposition event to a different time point during great ape evolution. We used these homoplasy-free markers to construct a mobile element insertions-based phylogeny of humans and great apes and demonstrate their differential power to discern ape subspecies and populations. Within this context, we find a good correlation between L1 diversity and single-nucleotide polymorphism heterozygosity (r(2) = 0.65) in contrast to Alu repeats, which show little correlation (r(2) = 0.07). We estimate that the "rate" of Alu retrotransposition has differed by a factor of 15-fold in these lineages. Humans, chimpanzees, and bonobos show the highest rates of Alu accumulation--the latter two since divergence 1.5 Mya. The L1 insertion rate, in contrast, has remained relatively constant, with rates differing by less than a factor of three. We conclude that Alu retrotransposition has been the most variable form of genetic variation during recent human-great ape evolution, with increases and decreases occurring over very short periods of evolutionary time.

Published
2013

172. Great ape genetic diversity and population history.

Author

Prado-Martinez, Javier, Prado-Martinez, Javier, Sudmant, Peter H, Kidd, Jeffrey M, Li, Heng, Kelley, Joanna L, Lorente-Galdos, Belen, Veeramah, Krishna R, Woerner, August E, O'Connor, Timothy D, Santpere, Gabriel, Cagan, Alexander, Theunert, Christoph, Casals, Ferran, Laayouni, Hafid, Munch, Kasper, Hobolth, Asger, Halager, Anders E, Malig, Maika, Hernandez-Rodriguez, Jessica, Hernando-Herraez, Irene, Prüfer, Kay, Pybus, Marc, Johnstone, Laurel, Lachmann, Michael, Alkan, Can, Twigg, Dorina, Petit, Natalia, Baker, Carl, Hormozdiari, Fereydoun, Fernandez-Callejo, Marcos, Dabad, Marc, Wilson, Michael L, Stevison, Laurie, Camprubí, Cristina, Carvalho, Tiago, Ruiz-Herrera, Aurora, Vives, Laura, Mele, Marta, Abello, Teresa, Kondova, Ivanela, Bontrop, Ronald E, Pusey, Anne, Lankester, Felix, Kiyang, John A, Bergl, Richard A, Lonsdorf, Elizabeth, Myers, Simon, Ventura, Mario, Gagneux, Pascal, Comas, David, Siegismund, Hans, Blanc, Julie, Agueda-Calpena, Lidia, Gut, Marta, Fulton, Lucinda, Tishkoff, Sarah A, Mullikin, James C, Wilson, Richard K, Gut, Ivo G, Gonder, Mary Katherine, Ryder, Oliver A, Hahn, Beatrice H, Navarro, Arcadi, Akey, Joshua M, Bertranpetit, Jaume, Reich, David, Mailund, Thomas, Schierup, Mikkel H, Hvilsom, Christina, Andrés, Aida M, Wall, Jeffrey D, Bustamante, Carlos D, Hammer, Michael F, Eichler, Evan E, Marques-Bonet, Tomas, Prado-Martinez, Javier, Prado-Martinez, Javier, Sudmant, Peter H, Kidd, Jeffrey M, Li, Heng, Kelley, Joanna L, Lorente-Galdos, Belen, Veeramah, Krishna R, Woerner, August E, O'Connor, Timothy D, Santpere, Gabriel, Cagan, Alexander, Theunert, Christoph, Casals, Ferran, Laayouni, Hafid, Munch, Kasper, Hobolth, Asger, Halager, Anders E, Malig, Maika, Hernandez-Rodriguez, Jessica, Hernando-Herraez, Irene, Prüfer, Kay, Pybus, Marc, Johnstone, Laurel, Lachmann, Michael, Alkan, Can, Twigg, Dorina, Petit, Natalia, Baker, Carl, Hormozdiari, Fereydoun, Fernandez-Callejo, Marcos, Dabad, Marc, Wilson, Michael L, Stevison, Laurie, Camprubí, Cristina, Carvalho, Tiago, Ruiz-Herrera, Aurora, Vives, Laura, Mele, Marta, Abello, Teresa, Kondova, Ivanela, Bontrop, Ronald E, Pusey, Anne, Lankester, Felix, Kiyang, John A, Bergl, Richard A, Lonsdorf, Elizabeth, Myers, Simon, Ventura, Mario, Gagneux, Pascal, Comas, David, Siegismund, Hans, Blanc, Julie, Agueda-Calpena, Lidia, Gut, Marta, Fulton, Lucinda, Tishkoff, Sarah A, Mullikin, James C, Wilson, Richard K, Gut, Ivo G, Gonder, Mary Katherine, Ryder, Oliver A, Hahn, Beatrice H, Navarro, Arcadi, Akey, Joshua M, Bertranpetit, Jaume, Reich, David, Mailund, Thomas, Schierup, Mikkel H, Hvilsom, Christina, Andrés, Aida M, Wall, Jeffrey D, Bustamante, Carlos D, Hammer, Michael F, Eichler, Evan E, and Marques-Bonet, Tomas

Abstract

Most great ape genetic variation remains uncharacterized; however, its study is critical for understanding population history, recombination, selection and susceptibility to disease. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing all six great ape species and seven subspecies and report 88.8 million single nucleotide polymorphisms. Our analysis provides support for genetically distinct populations within each species, signals of gene flow, and the split of common chimpanzees into two distinct groups: Nigeria-Cameroon/western and central/eastern populations. We find extensive inbreeding in almost all wild populations, with eastern gorillas being the most extreme. Inferred effective population sizes have varied radically over time in different lineages and this appears to have a profound effect on the genetic diversity at, or close to, genes in almost all species. We discover and assign 1,982 loss-of-function variants throughout the human and great ape lineages, determining that the rate of gene loss has not been different in the human branch compared to other internal branches in the great ape phylogeny. This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations.

Published
2013

173. Global increases in both common and rare copy number load associated with autism.

Author

Girirajan, Santhosh, Girirajan, Santhosh, Johnson, Rebecca L, Tassone, Flora, Balciuniene, Jorune, Katiyar, Neerja, Fox, Keolu, Baker, Carl, Srikanth, Abhinaya, Yeoh, Kian Hui, Khoo, Su Jen, Nauth, Therese B, Hansen, Robin, Ritchie, Marylyn, Hertz-Picciotto, Irva, Eichler, Evan E, Pessah, Isaac N, Selleck, Scott B, Girirajan, Santhosh, Girirajan, Santhosh, Johnson, Rebecca L, Tassone, Flora, Balciuniene, Jorune, Katiyar, Neerja, Fox, Keolu, Baker, Carl, Srikanth, Abhinaya, Yeoh, Kian Hui, Khoo, Su Jen, Nauth, Therese B, Hansen, Robin, Ritchie, Marylyn, Hertz-Picciotto, Irva, Eichler, Evan E, Pessah, Isaac N, and Selleck, Scott B

Abstract

Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been documented. We examined CNV data from 516 individuals with autism or typical development from the population-based Childhood Autism Risks from Genetics and Environment (CHARGE) study. We interrogated 120 regions flanked by segmental duplications (genomic hotspots) for events >50 kbp and the entire genomic backbone for variants >300 kbp using a custom targeted DNA microarray. This analysis was complemented by a separate study of five highly dynamic hotspots associated with autism or developmental delay syndromes, using a finely tiled array platform (>1 kbp) in 142 children matched for gender and ethnicity. In both studies, a significant increase in the number of base pairs of duplication, but not deletion, was associated with autism. Significantly elevated levels of CNV load remained after the removal of rare and likely pathogenic events. Further, the entire CNV load detected with the finely tiled array was contributed by common variants. The impact of this variation was assessed by examining the correlation of clinical outcomes with CNV load. The level of personal and social skills, measured by Vineland Adaptive Behavior Scales, negatively correlated (Spearman's r = -0.13, P = 0.034) with the duplication CNV load for the affected children; the strongest association was found for communication (P = 0.048) and socialization (P = 0.022) scores. We propose that CNV load, predominantly increased genomic base pairs of duplication, predisposes to autism.

Published
2013

174. The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution

Author

Smith, Jeramiah J., Timoshevskaya, Nataliya, Ye, Chengxi, Holt, Carson, Keinath, Melissa C., Parker, Hugo J., Cook, Malcolm E., Hess, Jon E., Narum, Shawn R., Lamanna, Francesco, Kaessmann, Henrik, Timoshevskiy, Vladimir A., Waterbury, Courtney K. M., Saraceno, Cody, Wiedemann, Leanne M., Robb, Sofia M. C., Baker, Carl, Eichler, Evan E., Hockman, Dorit, Sauka-Spengler, Tatjana, Yandell, Mark, Krumlauf, Robb, Elgar, Greg, and Amemiya, Chris T.

Abstract

The sea lamprey (Petromyzon marinus) serves as a comparative model for reconstructing vertebrate evolution. To enable more informed analyses, we developed a new assembly of the lamprey germline genome that integrates several complementary data sets. Analysis of this highly contiguous (chromosome-scale) assembly shows that both chromosomal and whole-genome duplications have played significant roles in the evolution of ancestral vertebrate and lamprey genomes, including chromosomes that carry the six lamprey HOX clusters. The assembly also contains several hundred genes that are reproducibly eliminated from somatic cells during early development in lamprey. Comparative analyses show that gnathostome (mouse) homologs of these genes are frequently marked by polycomb repressive complexes (PRCs) in embryonic stem cells, suggesting overlaps in the regulatory logic of somatic DNA elimination and bivalent states that are regulated by early embryonic PRCs. This new assembly will enhance diverse studies that are informed by lampreys’ unique biology and evolutionary/comparative perspective.

Published
2018
Full Text
View/download PDF

175. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIPhaploinsufficiency

Author

Jansen, Sandra, Hoischen, Alexander, Coe, Bradley, Carvill, Gemma, Esch, Hilde, Bosch, Daniëlle, Andersen, Ulla, Baker, Carl, Bauters, Marijke, Bernier, Raphael, Bon, Bregje, Claahsen-van der Grinten, Hedi, Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin, Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke, Pfundt, Rolph, Steehouwer, Marloes, Stevens, Servi, Stumpel, Connie, Vansenne, Fleur, Vinci, Mirella, Vorst, Maartje, Vries, Petra de, Witherspoon, Kali, Veltman, Joris, Brunner, Han, Mefford, Heather, Romano, Corrado, Vissers, Lisenka, Eichler, Evan, and Vries, Bert B.

Abstract

Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these to consistent (endo)phenotypes to establish disease causality. We have performed a MIP (molecular inversion probe)-based targeted re-sequencing study in 3,275 individuals with intellectual disability (ID) to facilitate a genotype-first approach for 24 genes previously implicated in ID. Combining our data with data from a publicly available database, we confirmed 11 of these 24 genes to be relevant for ID. Amongst these, PHIPwas shown to have an enrichment of disruptive mutations in the individuals with ID (5 out of 3,275). Through international collaboration, we identified a total of 23 individuals with PHIPmutations and elucidated the associated phenotype. Remarkably, all 23 individuals had developmental delay/ID and the majority were overweight or obese. Other features comprised behavioral problems (hyperactivity, aggression, features of autism and/or mood disorder) and dysmorphisms (full eyebrows and/or synophrys, upturned nose, large ears and tapering fingers). Interestingly, PHIPencodes two protein-isoforms, PHIP/DCAF14 and NDRP, each involved in neurodevelopmental processes, including E3 ubiquitination and neuronal differentiation. Detailed genotype-phenotype analysis points towards haploinsufficiency of PHIP/DCAF14, and not NDRP, as the underlying cause of the phenotype. Thus, we demonstrated the use of large scale re-sequencing by MIPs, followed by reverse phenotyping, as a constructive approach to verify candidate disease genes and identify novel syndromes, highlighted by PHIPhaploinsufficiency causing an ID-overweight syndrome.

Published
2018
Full Text
View/download PDF

176. The birth of a human-specific neural gene by incomplete duplication and gene fusion

Author

Dougherty, Max, Nuttle, Xander, Penn, Osnat, Nelson, Bradley, Huddleston, John, Baker, Carl, Harshman, Lana, Duyzend, Michael, Ventura, Mario, Antonacci, Francesca, Sandstrom, Richard, Dennis, Megan, and Eichler, Evan

Abstract

Gene innovation by duplication is a fundamental evolutionary process but is difficult to study in humans due to the large size, high sequence identity, and mosaic nature of segmental duplication blocks. The human-specific gene hydrocephalus-inducing 2, HYDIN2, was generated by a 364 kbp duplication of 79 internal exons of the large ciliary gene HYDINfrom chromosome 16q22.2 to chromosome 1q21.1. Because the HYDIN2locus lacks the ancestral promoter and seven terminal exons of the progenitor gene, we sought to characterize transcription at this locus by coupling reverse transcription polymerase chain reaction and long-read sequencing. 5' RACE indicates a transcription start site for HYDIN2outside of the duplication and we observe fusion transcripts spanning both the 5' and 3' breakpoints. We observe extensive splicing diversity leading to the formation of altered open reading frames (ORFs) that appear to be under relaxed selection. We show that HYDIN2adopted a new promoter that drives an altered pattern of expression, with highest levels in neural tissues. We estimate that the HYDINduplication occurred ~3.2 million years ago and find that it is nearly fixed (99.9%) for diploid copy number in contemporary humans. Examination of 73 chromosome 1q21 rearrangement patients reveals that HYDIN2is deleted or duplicated in most cases. Together, these data support a model of rapid gene innovation by fusion of incomplete segmental duplications, altered tissue expression, and potential subfunctionalization or neofunctionalization of HYDIN2early in the evolution of the Homolineage.

Published
2017
Full Text
View/download PDF

177. Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

Author

National Institutes of Health (US), Ministerio de Ciencia e Innovación (España), Instituto Nacional de Bioinformática (España), European Commission, Ventura, Mario, Catacchio, Claudia R., Alkan, Can, Marqués-Bonet, Tomàs, Sajjadian, Saba, Graves, Tina A., Hormozdiari, Fereydoun, Navarro, Arcadi, Malig, Maika, Baker, Carl, Lee, Choli, Turner, Emily H., Chen, Lin, Kidd, Jeffrey M., Archidiacono, Nicoletta, Shendure, Jay, Wilson, Richard K., Eichler, Evan E., National Institutes of Health (US), Ministerio de Ciencia e Innovación (España), Instituto Nacional de Bioinformática (España), European Commission, Ventura, Mario, Catacchio, Claudia R., Alkan, Can, Marqués-Bonet, Tomàs, Sajjadian, Saba, Graves, Tina A., Hormozdiari, Fereydoun, Navarro, Arcadi, Malig, Maika, Baker, Carl, Lee, Choli, Turner, Emily H., Chen, Lin, Kidd, Jeffrey M., Archidiacono, Nicoletta, Shendure, Jay, Wilson, Richard K., and Eichler, Evan E.

Abstract

Structural variation has played an important role in the evolutionary restructuring of human and great ape genomes. Recent analyses have suggested that the genomes of chimpanzee and human have been particularly enriched for this form of genetic variation. Here, we set out to assess the extent of structural variation in the gorilla lineage by generating 10-fold genomic sequence coverage from a western lowland gorilla and integrating these data into a physical and cytogenetic framework of structural variation. We discovered and validated over 7665 structural changes within the gorilla lineage, including sequence resolution of inversions, deletions, duplications, and mobile element insertions. A comparison with human and other ape genomes shows that the gorilla genome has been subjected to the highest rate of segmental duplication. We show that both the gorilla and chimpanzee genomes have experienced independent yet convergent patterns of structural mutation that have not occurred in humans, including the formation of subtelomeric heterochromatic caps, the hyperexpansion of segmental duplications, and bursts of retroviral integrations. Our analysis suggests that the chimpanzee and gorilla genomes are structurally more derived than either orangutan or human genomes. © 2011 by Cold Spring Harbor Laboratory Press.

Published
2011

178. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

Author

Girirajan, Santhosh, Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G, Eichler, Evan E, Girirajan, Santhosh, Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G, and Eichler, Evan E

Abstract

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls (P = 0.028, OR = 2.5). Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents (P = 0.037, OR = 6). Probands were more likely to carry an additional large copy-number variant when compared to matched controls (10 of 42 cases, P = 5.7 x 10(-5), OR = 6.6). The clinical features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease.

Published
2010

179. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Author

de Kovel, Carolien G F, Trucks, Holger, Helbig, Ingo, Mefford, Heather C, Baker, Carl, Leu, Costin, Kluck, Christian, Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Obermeier, Tanja, Kleefuss-Lie, Ailing A, Hallmann, Kerstin, Steffens, Michael, Gaus, Verena, Klein, Karl M, Hamer, Hajo M, Rosenow, Felix, Brilstra, Eva H, Trenité, Dorothée Kasteleijn-Nolst, Swinkels, Marielle E M, Weber, Yvonne G, Unterberger, Iris, Zimprich, Fritz, Urak, Lydia, Feucht, Martha, Fuchs, Karoline, Møller, Rikke S, Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Rückert, Ina-Maria, Wichmann, Heinz-Erich, Franke, Andre, Schreiber, Stefan, Nürnberg, Peter, Elger, Christian E, Lerche, Holger, Stephani, Ulrich, Koeleman, Bobby P C, Lindhout, Dick, Eichler, Evan E, Sander, Thomas, de Kovel, Carolien G F, Trucks, Holger, Helbig, Ingo, Mefford, Heather C, Baker, Carl, Leu, Costin, Kluck, Christian, Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Obermeier, Tanja, Kleefuss-Lie, Ailing A, Hallmann, Kerstin, Steffens, Michael, Gaus, Verena, Klein, Karl M, Hamer, Hajo M, Rosenow, Felix, Brilstra, Eva H, Trenité, Dorothée Kasteleijn-Nolst, Swinkels, Marielle E M, Weber, Yvonne G, Unterberger, Iris, Zimprich, Fritz, Urak, Lydia, Feucht, Martha, Fuchs, Karoline, Møller, Rikke S, Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Rückert, Ina-Maria, Wichmann, Heinz-Erich, Franke, Andre, Schreiber, Stefan, Nürnberg, Peter, Elger, Christian E, Lerche, Holger, Stephani, Ulrich, Koeleman, Bobby P C, Lindhout, Dick, Eichler, Evan E, and Sander, Thomas

Abstract

Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed a significant excess of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 in various neuropsychiatric disorders including autism, intellectual disability and schizophrenia. Microdeletions at 15q13.3 have recently been shown to constitute a strong genetic risk factor for common idiopathic generalized epilepsy syndromes, implicating that other recurrent microdeletions may also be involved in epileptogenesis. This study aimed to investigate the impact of five microdeletions at the genomic hotspot regions 1q21.1, 15q11.2, 16p11.2, 16p13.11 and 22q11.2 on the genetic risk to common idiopathic generalized epilepsy syndromes. The candidate microdeletions were assessed by high-density single nucleotide polymorphism arrays in 1234 patients with idiopathic generalized epilepsy from North-western Europe and 3022 controls from the German population. Microdeletions were validated by quantitative polymerase chain reaction and their breakpoints refined by array comparative genomic hybridization. In total, 22 patients with idiopathic generalized epilepsy (1.8%) carried one of the five novel microdeletions compared with nine controls (0.3%) (odds ratio = 6.1; 95% confidence interval 2.8-13.2; chi(2) = 26.7; 1 degree of freedom; P = 2.4 x 10(-7)). Microdeletions were observed at 1q21.1 [Idiopathic generalized epilepsy (IGE)/control: 1/1], 15q11.2 (IGE/control: 12/6), 16p11.2 IGE/control: 1/0, 16p13.11 (IGE/control: 6/2) and 22q11.2 (IGE/control: 2/0). Significant associations with IGEs were found for the microdeletions at 15q11.2 (odds ratio = 4.9; 95% confidence interval 1.8-13.2; P = 4.2 x 10(-4)) and 16p13.11 (odds ratio = 7.4; 95% confidence interval 1.3-74.7; P = 0.009). Including nine patients with

Published
2010

180. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Author

Helbig, Ingo, Mefford, Heather C, Sharp, Andrew J, Guipponi, Michel, Fichera, Marco, Franke, Andre, Muhle, Hiltrud, de Kovel, Carolien, Baker, Carl, von Spiczak, Sarah, Kron, Katherine L, Steinich, Ines, Kleefuss-Lie, Ailing A, Leu, Costin, Gaus, Verena, Schmitz, Bettina, Klein, Karl M, Reif, Philipp S, Rosenow, Felix, Weber, Yvonne, Lerche, Holger, Zimprich, Fritz, Urak, Lydia, Fuchs, Karoline, Feucht, Martha, Genton, Pierre, Thomas, Pierre, Visscher, Frank, de Haan, Gerrit-Jan, Møller, Rikke S, Hjalgrim, Helle, Luciano, Daniela, Wittig, Michael, Nothnagel, Michael, Elger, Christian E, Nürnberg, Peter, Romano, Corrado, Malafosse, Alain, Koeleman, Bobby P C, Lindhout, Dick, Stephani, Ulrich, Schreiber, Stefan, Eichler, Evan E, Sander, Thomas, Helbig, Ingo, Mefford, Heather C, Sharp, Andrew J, Guipponi, Michel, Fichera, Marco, Franke, Andre, Muhle, Hiltrud, de Kovel, Carolien, Baker, Carl, von Spiczak, Sarah, Kron, Katherine L, Steinich, Ines, Kleefuss-Lie, Ailing A, Leu, Costin, Gaus, Verena, Schmitz, Bettina, Klein, Karl M, Reif, Philipp S, Rosenow, Felix, Weber, Yvonne, Lerche, Holger, Zimprich, Fritz, Urak, Lydia, Fuchs, Karoline, Feucht, Martha, Genton, Pierre, Thomas, Pierre, Visscher, Frank, de Haan, Gerrit-Jan, Møller, Rikke S, Hjalgrim, Helle, Luciano, Daniela, Wittig, Michael, Nothnagel, Michael, Elger, Christian E, Nürnberg, Peter, Romano, Corrado, Malafosse, Alain, Koeleman, Bobby P C, Lindhout, Dick, Stephani, Ulrich, Schreiber, Stefan, Eichler, Evan E, and Sander, Thomas

Abstract

Udgivelsesdato: 2009-Feb, We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.

Published
2009

181. Personalized copy number and segmental duplication maps using next-generation sequencing

Author

Alkan, Can, Kidd, Jeffrey M., Marqués-Bonet, Tomàs, Aksay, Gozde, Antonacci, Francesca, Baker, Carl, Eichler, Evan E., Alkan, Can, Kidd, Jeffrey M., Marqués-Bonet, Tomàs, Aksay, Gozde, Antonacci, Francesca, Baker, Carl, and Eichler, Evan E.

Abstract

Despite their importance in gene innovation and phenotypic variation, duplicated regions have remained largely intractable owing to difficulties in accurately resolving their structure, copy number and sequence content. We present an algorithm (mrFAST) to comprehensively map next-generation sequence reads, which allows for the prediction of absolute copy-number variation of duplicated segments and genes. We examine three human genomes and experimentally validate genome-wide copy number differences. We estimate that, on average, 73–87 genes vary in copy number between any two individuals and find that these genic differences overwhelmingly correspond to segmental duplications (odds ratio = 135; P < 2.2 10-16). Our method can distinguish between different copies of highly identical genes, providing a more accurate assessment of gene content and insight into functional constraint without the limitations of array-based technology.

Published
2009

182. Rates and patterns of great ape retrotransposition

Author

Hormozdiari, Fereydoun, primary, Konkel, Miriam K., additional, Prado-Martinez, Javier, additional, Chiatante, Giorgia, additional, Herraez, Irene Hernando, additional, Walker, Jerilyn A., additional, Nelson, Benjamin, additional, Alkan, Can, additional, Sudmant, Peter H., additional, Huddleston, John, additional, Catacchio, Claudia R., additional, Ko, Arthur, additional, Malig, Maika, additional, Baker, Carl, additional, Genome Project, Great Ape, additional, Marques-Bonet, Tomas, additional, Ventura, Mario, additional, Batzer, Mark A., additional, and Eichler, Evan E., additional

Published
2013
Full Text
View/download PDF

183. Great ape genetic diversity and population history

Author

Prado-Martinez, Javier, primary, Sudmant, Peter H., additional, Kidd, Jeffrey M., additional, Li, Heng, additional, Kelley, Joanna L., additional, Lorente-Galdos, Belen, additional, Veeramah, Krishna R., additional, Woerner, August E., additional, O’Connor, Timothy D., additional, Santpere, Gabriel, additional, Cagan, Alexander, additional, Theunert, Christoph, additional, Casals, Ferran, additional, Laayouni, Hafid, additional, Munch, Kasper, additional, Hobolth, Asger, additional, Halager, Anders E., additional, Malig, Maika, additional, Hernandez-Rodriguez, Jessica, additional, Hernando-Herraez, Irene, additional, Prüfer, Kay, additional, Pybus, Marc, additional, Johnstone, Laurel, additional, Lachmann, Michael, additional, Alkan, Can, additional, Twigg, Dorina, additional, Petit, Natalia, additional, Baker, Carl, additional, Hormozdiari, Fereydoun, additional, Fernandez-Callejo, Marcos, additional, Dabad, Marc, additional, Wilson, Michael L., additional, Stevison, Laurie, additional, Camprubí, Cristina, additional, Carvalho, Tiago, additional, Ruiz-Herrera, Aurora, additional, Vives, Laura, additional, Mele, Marta, additional, Abello, Teresa, additional, Kondova, Ivanela, additional, Bontrop, Ronald E., additional, Pusey, Anne, additional, Lankester, Felix, additional, Kiyang, John A., additional, Bergl, Richard A., additional, Lonsdorf, Elizabeth, additional, Myers, Simon, additional, Ventura, Mario, additional, Gagneux, Pascal, additional, Comas, David, additional, Siegismund, Hans, additional, Blanc, Julie, additional, Agueda-Calpena, Lidia, additional, Gut, Marta, additional, Fulton, Lucinda, additional, Tishkoff, Sarah A., additional, Mullikin, James C., additional, Wilson, Richard K., additional, Gut, Ivo G., additional, Gonder, Mary Katherine, additional, Ryder, Oliver A., additional, Hahn, Beatrice H., additional, Navarro, Arcadi, additional, Akey, Joshua M., additional, Bertranpetit, Jaume, additional, Reich, David, additional, Mailund, Thomas, additional, Schierup, Mikkel H., additional, Hvilsom, Christina, additional, Andrés, Aida M., additional, Wall, Jeffrey D., additional, Bustamante, Carlos D., additional, Hammer, Michael F., additional, Eichler, Evan E., additional, and Marques-Bonet, Tomas, additional

Published
2013
Full Text
View/download PDF

185. A Mechanism for Controlled Access to GWAS Data: Experience of the GAIN Data Access Committee

Author

Ramos, Erin M., primary, Din-Lovinescu, Corina, additional, Bookman, Ebony B., additional, McNeil, Lisa J., additional, Baker, Carl C., additional, Godynskiy, Georgy, additional, Harris, Emily L., additional, Lehner, Thomas, additional, McKeon, Catherine, additional, Moss, Joel, additional, Starks, Vaurice L., additional, Sherry, Stephen T., additional, Manolio, Teri A., additional, and Rodriguez, Laura Lyman, additional

Published
2013
Full Text
View/download PDF

186. Global increases in both common and rare copy number load associated with autism

Author

Girirajan, Santhosh, primary, Johnson, Rebecca L., additional, Tassone, Flora, additional, Balciuniene, Jorune, additional, Katiyar, Neerja, additional, Fox, Keolu, additional, Baker, Carl, additional, Srikanth, Abhinaya, additional, Yeoh, Kian Hui, additional, Khoo, Su Jen, additional, Nauth, Therese B., additional, Hansen, Robin, additional, Ritchie, Marylyn, additional, Hertz-Picciotto, Irva, additional, Eichler, Evan E., additional, Pessah, Isaac N., additional, and Selleck, Scott B., additional

Published
2013
Full Text
View/download PDF

187. Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

Author

Girirajan, Santhosh, primary, Dennis, Megan Y., additional, Baker, Carl, additional, Malig, Maika, additional, Coe, Bradley P., additional, Campbell, Catarina D., additional, Mark, Kenneth, additional, Vu, Tiffany H., additional, Alkan, Can, additional, Cheng, Ze, additional, Biesecker, Leslie G., additional, Bernier, Raphael, additional, and Eichler, Evan E., additional

Published
2013
Full Text
View/download PDF

188. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

Author

Nuttle, Xander, Giannuzzi, Giuliana, Duyzend, Michael H., Schraiber, Joshua G., Narvaiza, Iñigo, Sudmant, Peter H., Penn, Osnat, Chiatante, Giorgia, Malig, Maika, Huddleston, John, Benner, Chris, Camponeschi, Francesca, Ciofi-Baffoni, Simone, Stessman, Holly A. F., Marchetto, Maria C. N., Denman, Laura, Harshman, Lana, Baker, Carl, Raja, Archana, and Penewit, Kelsi

Published
2016
Full Text
View/download PDF

189. Association of Baseline Visual Acuity and Retinal Thickness With 1-Year Efficacy of Aflibercept, Bevacizumab, and Ranibizumab for Diabetic Macular Edema.

Author

Wells, John A., Glassman, Adam R., Jampol, Lee M., Aiello, Lloyd Paul, Antoszyk, Andrew N., Baker, Carl W., Bressler, Neil M., Browning, David J., Connor, Crystal G., Elman, Michael J., Ferris, Frederick L., Friedman, Scott M., Melia, Michele, Pieramici, Dante J., Sun, Jennifer K., Beck, Roy W., and Diabetic Retinopathy Clinical Research Network

Published
2016
Full Text
View/download PDF

191. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Author

O’Roak, Brian J., primary, Vives, Laura, additional, Girirajan, Santhosh, additional, Karakoc, Emre, additional, Krumm, Niklas, additional, Coe, Bradley P., additional, Levy, Roie, additional, Ko, Arthur, additional, Lee, Choli, additional, Smith, Joshua D., additional, Turner, Emily H., additional, Stanaway, Ian B., additional, Vernot, Benjamin, additional, Malig, Maika, additional, Baker, Carl, additional, Reilly, Beau, additional, Akey, Joshua M., additional, Borenstein, Elhanan, additional, Rieder, Mark J., additional, Nickerson, Deborah A., additional, Bernier, Raphael, additional, Shendure, Jay, additional, and Eichler, Evan E., additional

Published
2012
Full Text
View/download PDF

192. Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing

Author

Itsara, Andy, primary, Vissers, Lisenka E.L.M., additional, Steinberg, Karyn Meltz, additional, Meyer, Kevin J., additional, Zody, Michael C., additional, Koolen, David A., additional, de Ligt, Joep, additional, Cuppen, Edwin, additional, Baker, Carl, additional, Lee, Choli, additional, Graves, Tina A., additional, Wilson, Richard K., additional, Jenkins, Robert B., additional, Veltman, Joris A., additional, and Eichler, Evan E., additional

Published
2012
Full Text
View/download PDF

193. Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Author

O'Roak, Brian J, primary, Deriziotis, Pelagia, additional, Lee, Choli, additional, Vives, Laura, additional, Schwartz, Jerrod J, additional, Girirajan, Santhosh, additional, Karakoc, Emre, additional, MacKenzie, Alexandra P, additional, Ng, Sarah B, additional, Baker, Carl, additional, Rieder, Mark J, additional, Nickerson, Deborah A, additional, Bernier, Raphael, additional, Fisher, Simon E, additional, Shendure, Jay, additional, and Eichler, Evan E, additional

Published
2012
Full Text
View/download PDF

194. Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

Author

Girirajan, Santhosh, primary, Brkanac, Zoran, additional, Coe, Bradley P., additional, Baker, Carl, additional, Vives, Laura, additional, Vu, Tiffany H., additional, Shafer, Neil, additional, Bernier, Raphael, additional, Ferrero, Giovanni B., additional, Silengo, Margherita, additional, Warren, Stephen T., additional, Moreno, Carlos S., additional, Fichera, Marco, additional, Romano, Corrado, additional, Raskind, Wendy H., additional, and Eichler, Evan E., additional

Published
2011
Full Text
View/download PDF

195. Copy number variation analysis in the great apes reveals species-specific patterns of structural variation

Author

Gazave, Elodie, primary, Darré, Fleur, additional, Morcillo-Suarez, Carlos, additional, Petit-Marty, Natalia, additional, Carreño, Angel, additional, Marigorta, Urko M., additional, Ryder, Oliver A., additional, Blancher, Antoine, additional, Rocchi, Mariano, additional, Bosch, Elena, additional, Baker, Carl, additional, Marquès-Bonet, Tomàs, additional, Eichler, Evan E., additional, and Navarro, Arcadi, additional

Published
2011
Full Text
View/download PDF

196. Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

Author

Ventura, Mario, primary, Catacchio, Claudia R., additional, Alkan, Can, additional, Marques-Bonet, Tomas, additional, Sajjadian, Saba, additional, Graves, Tina A., additional, Hormozdiari, Fereydoun, additional, Navarro, Arcadi, additional, Malig, Maika, additional, Baker, Carl, additional, Lee, Choli, additional, Turner, Emily H., additional, Chen, Lin, additional, Kidd, Jeffrey M., additional, Archidiacono, Nicoletta, additional, Shendure, Jay, additional, Wilson, Richard K., additional, and Eichler, Evan E., additional

Published
2011
Full Text
View/download PDF

197. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Author

O'Roak, Brian J, primary, Deriziotis, Pelagia, additional, Lee, Choli, additional, Vives, Laura, additional, Schwartz, Jerrod J, additional, Girirajan, Santhosh, additional, Karakoc, Emre, additional, MacKenzie, Alexandra P, additional, Ng, Sarah B, additional, Baker, Carl, additional, Rieder, Mark J, additional, Nickerson, Deborah A, additional, Bernier, Raphael, additional, Fisher, Simon E, additional, Shendure, Jay, additional, and Eichler, Evan E, additional

Published
2011
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results