Search | VHL CLAP/WR-PAHO/WHO

1.

The role of de novo mutations in the genetics of autism spectrum disorders.

Ronemus, Michael; Iossifov, Ivan; Levy, Dan; Wigler, Michael.

Nat Rev Genet ; 15(2): 133-41, 2014 Feb.

Article in English | MEDLINE | ID: mdl-24430941

2.

The contribution of de novo coding mutations to autism spectrum disorder.

Iossifov, Ivan; O'Roak, Brian J; Sanders, Stephan J; Ronemus, Michael; Krumm, Niklas; Levy, Dan; Stessman, Holly A; Witherspoon, Kali T; Vives, Laura; Patterson, Karynne E; Smith, Joshua D; Paeper, Bryan; Nickerson, Deborah A; Dea, Jeanselle; Dong, Shan; Gonzalez, Luis E; Mandell, Jeffrey D; Mane, Shrikant M; Murtha, Michael T; Sullivan, Catherine A; Walker, Michael F; Waqar, Zainulabedin; Wei, Liping; Willsey, A Jeremy; Yamrom, Boris; Lee, Yoon-ha; Grabowska, Ewa; Dalkic, Ertugrul; Wang, Zihua; Marks, Steven; Andrews, Peter; Leotta, Anthony; Kendall, Jude; Hakker, Inessa; Rosenbaum, Julie; Ma, Beicong; Rodgers, Linda; Troge, Jennifer; Narzisi, Giuseppe; Yoon, Seungtai; Schatz, Michael C; Ye, Kenny; McCombie, W Richard; Shendure, Jay; Eichler, Evan E; State, Matthew W; Wigler, Michael.

Nature ; 515(7526): 216-21, 2014 Nov 13.

Article in English | MEDLINE | ID: mdl-25363768

3.

Partial bisulfite conversion for unique template sequencing.

Kumar, Vijay; Rosenbaum, Julie; Wang, Zihua; Forcier, Talitha; Ronemus, Michael; Wigler, Michael; Levy, Dan.

Nucleic Acids Res ; 46(2): e10, 2018 01 25.

Article in English | MEDLINE | ID: mdl-29161423

4.

SMASH, a fragmentation and sequencing method for genomic copy number analysis.

Wang, Zihua; Andrews, Peter; Kendall, Jude; Ma, Beicong; Hakker, Inessa; Rodgers, Linda; Ronemus, Michael; Wigler, Michael; Levy, Dan.

Genome Res ; 26(6): 844-51, 2016 06.

Article in English | MEDLINE | ID: mdl-27197213

5.

Low load for disruptive mutations in autism genes and their biased transmission.

Iossifov, Ivan; Levy, Dan; Allen, Jeremy; Ye, Kenny; Ronemus, Michael; Lee, Yoon-Ha; Yamrom, Boris; Wigler, Michael.

Proc Natl Acad Sci U S A ; 112(41): E5600-7, 2015 Oct 13.

Article in English | MEDLINE | ID: mdl-26401017

6.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Glessner, Joseph T; Bick, Alexander G; Ito, Kaoru; Homsy, Jason; Rodriguez-Murillo, Laura; Fromer, Menachem; Mazaika, Erica; Vardarajan, Badri; Italia, Michael; Leipzig, Jeremy; DePalma, Steven R; Golhar, Ryan; Sanders, Stephan J; Yamrom, Boris; Ronemus, Michael; Iossifov, Ivan; Willsey, A Jeremy; State, Matthew W; Kaltman, Jonathan R; White, Peter S; Shen, Yufeng; Warburton, Dorothy; Brueckner, Martina; Seidman, Christine; Goldmuntz, Elizabeth; Gelb, Bruce D; Lifton, Richard; Seidman, Jonathan; Hakonarson, Hakon; Chung, Wendy K.

Circ Res ; 115(10): 884-896, 2014 Oct 24.

Article in English | MEDLINE | ID: mdl-25205790

7.

Rare de novo germline copy-number variation in testicular cancer.

Stadler, Zsofia K; Esposito, Diane; Shah, Sohela; Vijai, Joseph; Yamrom, Boris; Levy, Dan; Lee, Yoon-Ha; Kendall, Jude; Leotta, Anthony; Ronemus, Michael; Hansen, Nichole; Sarrel, Kara; Rau-Murthy, Rohini; Schrader, Kasmintan; Kauff, Noah; Klein, Robert J; Lipkin, Steven M; Murali, Rajmohan; Robson, Mark; Sheinfeld, Joel; Feldman, Darren; Bosl, George; Norton, Larry; Wigler, Michael; Offit, Kenneth.

Am J Hum Genet ; 91(2): 379-83, 2012 Aug 10.

Article in English | MEDLINE | ID: mdl-22863192

8.

Reducing system noise in copy number data using principal components of self-self hybridizations.

Lee, Yoon-ha; Ronemus, Michael; Kendall, Jude; Lakshmi, B; Leotta, Anthony; Levy, Dan; Esposito, Diane; Grubor, Vladimir; Ye, Kenny; Wigler, Michael; Yamrom, Boris.

Proc Natl Acad Sci U S A ; 109(3): E103-10, 2012 Jan 17.

Article in English | MEDLINE | ID: mdl-22207624

9.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.

Warburton, Dorothy; Ronemus, Michael; Kline, Jennie; Jobanputra, Vaidehi; Williams, Ismee; Anyane-Yeboa, Kwame; Chung, Wendy; Yu, Lan; Wong, Nancy; Awad, Danielle; Yu, Chih-Yu; Leotta, Anthony; Kendall, Jude; Yamrom, Boris; Lee, Yoon-Ha; Wigler, Michael; Levy, Dan.

Hum Genet ; 133(1): 11-27, 2014 Jan.

Article in English | MEDLINE | ID: mdl-23979609

10.

Sharing parental genomes by siblings concordant or discordant for autism.

Wroten, Mathew; Yoon, Seungtai; Andrews, Peter; Yamrom, Boris; Ronemus, Michael; Buja, Andreas; Krieger, Abba M; Levy, Dan; Ye, Kenny; Wigler, Michael; Iossifov, Ivan.

Cell Genom ; 3(6): 100319, 2023 Jun 14.

Article in English | MEDLINE | ID: mdl-37388917

11.

Rates of contributory de novo mutation in high and low-risk autism families.

Yoon, Seungtai; Munoz, Adriana; Yamrom, Boris; Lee, Yoon-Ha; Andrews, Peter; Marks, Steven; Wang, Zihua; Reeves, Catherine; Winterkorn, Lara; Krieger, Abba M; Buja, Andreas; Pradhan, Kith; Ronemus, Michael; Baldwin, Kristin K; Levy, Dan; Wigler, Michael; Iossifov, Ivan.

Commun Biol ; 4(1): 1026, 2021 09 01.

Article in English | MEDLINE | ID: mdl-34471188

12.

Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.

Jobanputra, Vaidehi; Andrews, Peter; Felice, Vanessa; Abhyankar, Avinash; Kozon, Lukasz; Robinson, Dino; London, Ferrah; Hakker, Inessa; Wrzeszczynski, Kazimierz; Ronemus, Michael.

J Mol Diagn ; 22(12): 1476-1481, 2020 12.

Article in English | MEDLINE | ID: mdl-33132082

13.

RNA interference: methylation mystery.

Ronemus, Michael; Martienssen, Rob.

Nature ; 433(7025): 472-3, 2005 Feb 03.

Article in English | MEDLINE | ID: mdl-15690027

14.

Indel variant analysis of short-read sequencing data with Scalpel.

Fang, Han; Bergmann, Ewa A; Arora, Kanika; Vacic, Vladimir; Zody, Michael C; Iossifov, Ivan; O'Rawe, Jason A; Wu, Yiyang; Jimenez Barron, Laura T; Rosenbaum, Julie; Ronemus, Michael; Lee, Yoon-Ha; Wang, Zihua; Dikoglu, Esra; Jobanputra, Vaidehi; Lyon, Gholson J; Wigler, Michael; Schatz, Michael C; Narzisi, Giuseppe.

Nat Protoc ; 11(12): 2529-2548, 2016 Dec.

Article in English | MEDLINE | ID: mdl-27854363

15.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

Homsy, Jason; Zaidi, Samir; Shen, Yufeng; Ware, James S; Samocha, Kaitlin E; Karczewski, Konrad J; DePalma, Steven R; McKean, David; Wakimoto, Hiroko; Gorham, Josh; Jin, Sheng Chih; Deanfield, John; Giardini, Alessandro; Porter, George A; Kim, Richard; Bilguvar, Kaya; López-Giráldez, Francesc; Tikhonova, Irina; Mane, Shrikant; Romano-Adesman, Angela; Qi, Hongjian; Vardarajan, Badri; Ma, Lijiang; Daly, Mark; Roberts, Amy E; Russell, Mark W; Mital, Seema; Newburger, Jane W; Gaynor, J William; Breitbart, Roger E; Iossifov, Ivan; Ronemus, Michael; Sanders, Stephan J; Kaltman, Jonathan R; Seidman, Jonathan G; Brueckner, Martina; Gelb, Bruce D; Goldmuntz, Elizabeth; Lifton, Richard P; Seidman, Christine E; Chung, Wendy K.

Science ; 350(6265): 1262-6, 2015 Dec 04.

Article in English | MEDLINE | ID: mdl-26785492

16.

Reducing INDEL calling errors in whole genome and exome sequencing data.

Fang, Han; Wu, Yiyang; Narzisi, Giuseppe; O'Rawe, Jason A; Barrón, Laura T Jimenez; Rosenbaum, Julie; Ronemus, Michael; Iossifov, Ivan; Schatz, Michael C; Lyon, Gholson J.

Genome Med ; 6(10): 89, 2014.

Article in English | MEDLINE | ID: mdl-25426171

17.

De novo gene disruptions in children on the autistic spectrum.

Iossifov, Ivan; Ronemus, Michael; Levy, Dan; Wang, Zihua; Hakker, Inessa; Rosenbaum, Julie; Yamrom, Boris; Lee, Yoon-Ha; Narzisi, Giuseppe; Leotta, Anthony; Kendall, Jude; Grabowska, Ewa; Ma, Beicong; Marks, Steven; Rodgers, Linda; Stepansky, Asya; Troge, Jennifer; Andrews, Peter; Bekritsky, Mitchell; Pradhan, Kith; Ghiban, Elena; Kramer, Melissa; Parla, Jennifer; Demeter, Ryan; Fulton, Lucinda L; Fulton, Robert S; Magrini, Vincent J; Ye, Kenny; Darnell, Jennifer C; Darnell, Robert B; Mardis, Elaine R; Wilson, Richard K; Schatz, Michael C; McCombie, W Richard; Wigler, Michael.

Neuron ; 74(2): 285-99, 2012 Apr 26.

Article in English | MEDLINE | ID: mdl-22542183

18.

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.

Gilman, Sarah R; Iossifov, Ivan; Levy, Dan; Ronemus, Michael; Wigler, Michael; Vitkup, Dennis.

Neuron ; 70(5): 898-907, 2011 Jun 09.

Article in English | MEDLINE | ID: mdl-21658583

19.

Rare de novo and transmitted copy-number variation in autistic spectrum disorders.

Levy, Dan; Ronemus, Michael; Yamrom, Boris; Lee, Yoon-ha; Leotta, Anthony; Kendall, Jude; Marks, Steven; Lakshmi, B; Pai, Deepa; Ye, Kenny; Buja, Andreas; Krieger, Abba; Yoon, Seungtai; Troge, Jennifer; Rodgers, Linda; Iossifov, Ivan; Wigler, Michael.

Neuron ; 70(5): 886-97, 2011 Jun 09.

Article in English | MEDLINE | ID: mdl-21658582

20.

MicroRNA-targeted and small interfering RNA-mediated mRNA degradation is regulated by argonaute, dicer, and RNA-dependent RNA polymerase in Arabidopsis.

Ronemus, Michael; Vaughn, Matthew W; Martienssen, Robert A.

Plant Cell ; 18(7): 1559-74, 2006 Jul.

Article in English | MEDLINE | ID: mdl-16798886

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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