Búsqueda | Biblioteca Virtual en Salud

1.

Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencing.

Rodriguez, Isabel; Rossi, Nicole M; Keskus, Ayse G; Xie, Yi; Ahmad, Tanveer; Bryant, Asher; Lou, Hong; Paredes, Jesica Godinez; Milano, Rose; Rao, Nina; Tulsyan, Sonam; Boland, Joseph F; Luo, Wen; Liu, Jia; O'Hanlon, Tim; Bess, Jazmyn; Mukhina, Vera; Gaykalova, Daria; Yuki, Yuko; Malik, Laksh; Billingsley, Kimberley J; Blauwendraat, Cornelis; Carrington, Mary; Yeager, Meredith; Mirabello, Lisa; Kolmogorov, Mikhail; Dean, Michael.

Am J Hum Genet ; 111(3): 544-561, 2024 Mar 07.

Artículo en Inglés | MEDLINE | ID: mdl-38307027

2.

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.

Kolmogorov, Mikhail; Billingsley, Kimberley J; Mastoras, Mira; Meredith, Melissa; Monlong, Jean; Lorig-Roach, Ryan; Asri, Mobin; Alvarez Jerez, Pilar; Malik, Laksh; Dewan, Ramita; Reed, Xylena; Genner, Rylee M; Daida, Kensuke; Behera, Sairam; Shafin, Kishwar; Pesout, Trevor; Prabakaran, Jeshuwin; Carnevali, Paolo; Yang, Jianzhi; Rhie, Arang; Scholz, Sonja W; Traynor, Bryan J; Miga, Karen H; Jain, Miten; Timp, Winston; Phillippy, Adam M; Chaisson, Mark; Sedlazeck, Fritz J; Blauwendraat, Cornelis; Paten, Benedict.

Nat Methods ; 20(10): 1483-1492, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37710018

3.

Genome-Wide Analysis of Structural Variants in Parkinson Disease.

Billingsley, Kimberley J; Ding, Jinhui; Jerez, Pilar Alvarez; Illarionova, Anastasia; Levine, Kristin; Grenn, Francis P; Makarious, Mary B; Moore, Anni; Vitale, Daniel; Reed, Xylena; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Chia, Ruth; Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Quinn, John P; Bubb, Vivien J; Collins, Ryan L; Zhao, Xuefang; Walker, Mark; Pierce-Hoffman, Emma; Brand, Harrison; Talkowski, Michael E; Casey, Bradford; Cookson, Mark R; Markham, Androo; Nalls, Mike A; Mahmoud, Medhat; Sedlazeck, Fritz J; Blauwendraat, Cornelis; Gibbs, J Raphael; Singleton, Andrew B.

Ann Neurol ; 93(5): 1012-1022, 2023 05.

Artículo en Inglés | MEDLINE | ID: mdl-36695634

4.

Large-scale rare variant burden testing in Parkinson's disease.

Makarious, Mary B; Lake, Julie; Pitz, Vanessa; Ye Fu, Allen; Guidubaldi, Joseph L; Solsberg, Caroline Warly; Bandres-Ciga, Sara; Leonard, Hampton L; Kim, Jonggeol Jeffrey; Billingsley, Kimberley J; Grenn, Francis P; Jerez, Pilar Alvarez; Alvarado, Chelsea X; Iwaki, Hirotaka; Ta, Michael; Vitale, Dan; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Real, Raquel; Morris, Huw R; Ding, Jinhui; Gibbs, J Raphael; Singleton, Andrew B; Nalls, Mike A; Bhangale, Tushar; Blauwendraat, Cornelis.

Brain ; 146(11): 4622-4632, 2023 11 02.

Artículo en Inglés | MEDLINE | ID: mdl-37348876

5.

The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.

Miano-Burkhardt, Abigail; Alvarez Jerez, Pilar; Daida, Kensuke; Bandres Ciga, Sara; Billingsley, Kimberley J.

Int J Mol Sci ; 25(9)2024 Apr 27.

Artículo en Inglés | MEDLINE | ID: mdl-38732020

6.

Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.

Daida, Kensuke; Funayama, Manabu; Billingsley, Kimberley J; Malik, Laksh; Miano-Burkhardt, Abigail; Leonard, Hampton L; Makarious, Mary B; Iwaki, Hirotaka; Ding, Jinhui; Gibbs, J Raphael; Ishiguro, Mayu; Yoshino, Hiroyo; Ogaki, Kotaro; Oyama, Genko; Nishioka, Kenya; Nonaka, Risa; Akamatsu, Wado; Blauwendraat, Cornelis; Hattori, Nobutaka.

Mov Disord ; 38(12): 2249-2257, 2023 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-37926948

7.

Letter to the editor regarding "TGM6 variants in Parkinson's disease: clinical findings and functional evidence".

Hall, Ashley; Quinn, John P; Billingsley, Kimberley J.

J Integr Neurosci ; 19(4): 735-737, 2020 12 30.

Artículo en Inglés | MEDLINE | ID: mdl-33378849

8.

Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways.

Hall, Ashley; Bandres-Ciga, Sara; Diez-Fairen, Monica; Quinn, John P; Billingsley, Kimberley J.

Int J Mol Sci ; 21(19)2020 Oct 04.

Artículo en Inglés | MEDLINE | ID: mdl-33020390

9.

A SINE-VNTR-Alu in the LRIG2 Promoter Is Associated with Gene Expression at the Locus.

Hall, Ashley; Moore, Anni K; Hernandez, Dena G; Billingsley, Kimberley J; Bubb, Vivien J; Quinn, John P.

Int J Mol Sci ; 21(22)2020 Nov 11.

Artículo en Inglés | MEDLINE | ID: mdl-33187279

10.

The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome.

Gianfrancesco, Olympia; Geary, Bethany; Savage, Abigail L; Billingsley, Kimberley J; Bubb, Vivien J; Quinn, John P.

Int J Mol Sci ; 20(23)2019 Nov 27.

Artículo en Inglés | MEDLINE | ID: mdl-31783611

11.

Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.

Billingsley, Kimberley J; Alvarez Jerez, Pilar; Grenn, Francis P; Bandres-Ciga, Sara; Malik, Laksh; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Ding, Jinhui; Gibbs, J Raphael; Blauwendraat, Cornelis; Singleton, Andrew B.

Mov Disord ; 37(10): 2161-2162, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35866887

12.

Assessing methylation detection for primary human tissue using Nanopore sequencing.

Genner, Rylee; Akeson, Stuart; Meredith, Melissa; Jerez, Pilar Alvarez; Malik, Laksh; Baker, Breeana; Miano-Burkhardt, Abigail; Paten, Benedict; Billingsley, Kimberley J; Blauwendraat, Cornelis; Jain, Miten.

bioRxiv ; 2024 Mar 01.

Artículo en Inglés | MEDLINE | ID: mdl-38464144

13.

A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models.

Hall, Ashley; Middlehurst, Ben; Cadogan, Max A M; Reed, Xylena; Billingsley, Kimberley J; Bubb, Vivien J; Quinn, John P.

Sci Rep ; 14(1): 792, 2024 01 08.

Artículo en Inglés | MEDLINE | ID: mdl-38191889

14.

Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.

Cogan, Guillaume; Daida, Kensuke; Billingsley, Kimberley J; Tesson, Christelle; Forlani, Sylvie; Jornea, Ludmila; Arnaud, Lionel; Tissier, Laurene; LeGuern, Eric; Singleton, Andrew B; Ferrien, Mélanie; Gervais Bernard, Hélène; Lesage, Suzanne; Blauwendraat, Cornelis; Brice, Alexis.

medRxiv ; 2024 May 03.

Artículo en Inglés | MEDLINE | ID: mdl-38746197

15.

Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.

Alvarez Jerez, Pilar; Alcantud, Jose Luis; de Los Reyes-Ramírez, Lucia; Moore, Anni; Ruz, Clara; Vives Montero, Francisco; Rodriguez-Losada, Noela; Saini, Prabhjyot; Gan-Or, Ziv; Alvarado, Chelsea X; Makarious, Mary B; Billingsley, Kimberley J; Blauwendraat, Cornelis; Noyce, Alastair J; Singleton, Andrew B; Duran, Raquel; Bandres-Ciga, Sara.

NPJ Parkinsons Dis ; 9(1): 54, 2023 Apr 06.

Artículo en Inglés | MEDLINE | ID: mdl-37024536

16.

Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.

Daida, Kensuke; Funayama, Manabu; Billingsley, Kimberley J; Malik, Laksh; Miano-Burkhardt, Abigail; Leonard, Hampton L; Makarious, Mary B; Iwaki, Hirotaka; Ding, Jinhui; Gibbs, J Raphael; Ishiguro, Mayu; Yoshino, Hiroyo; Ogaki, Kotaro; Oyama, Genko; Nishioka, Kenya; Nonaka, Risa; Akamatsu, Wado; Blauwendraat, Cornelis; Hattori, Nobutaka.

medRxiv ; 2023 Aug 21.

Artículo en Inglés | MEDLINE | ID: mdl-37790330

17.

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.

Kolmogorov, Mikhail; Billingsley, Kimberley J; Mastoras, Mira; Meredith, Melissa; Monlong, Jean; Lorig-Roach, Ryan; Asri, Mobin; Jerez, Pilar Alvarez; Malik, Laksh; Dewan, Ramita; Reed, Xylena; Genner, Rylee M; Daida, Kensuke; Behera, Sairam; Shafin, Kishwar; Pesout, Trevor; Prabakaran, Jeshuwin; Carnevali, Paolo; Yang, Jianzhi; Rhie, Arang; Scholz, Sonja W; Traynor, Bryan J; Miga, Karen H; Jain, Miten; Timp, Winston; Phillippy, Adam M; Chaisson, Mark; Sedlazeck, Fritz J; Blauwendraat, Cornelis; Paten, Benedict.

bioRxiv ; 2023 Apr 05.

Artículo en Inglés | MEDLINE | ID: mdl-36711673

18.

The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.

Bressan, Elisangela; Reed, Xylena; Bansal, Vikas; Hutchins, Elizabeth; Cobb, Melanie M; Webb, Michelle G; Alsop, Eric; Grenn, Francis P; Illarionova, Anastasia; Savytska, Natalia; Violich, Ivo; Broeer, Stefanie; Fernandes, Noémia; Sivakumar, Ramiyapriya; Beilina, Alexandra; Billingsley, Kimberley J; Berghausen, Joos; Pantazis, Caroline B; Pitz, Vanessa; Patel, Dhairya; Daida, Kensuke; Meechoovet, Bessie; Reiman, Rebecca; Courtright-Lim, Amanda; Logemann, Amber; Antone, Jerry; Barch, Mariya; Kitchen, Robert; Li, Yan; Dalgard, Clifton L; Rizzu, Patrizia; Hernandez, Dena G; Hjelm, Brooke E; Nalls, Mike; Gibbs, J Raphael; Finkbeiner, Steven; Cookson, Mark R; Van Keuren-Jensen, Kendall; Craig, David W; Singleton, Andrew B; Heutink, Peter; Blauwendraat, Cornelis.

Cell Genom ; 3(3): 100261, 2023 Mar 08.

Artículo en Inglés | MEDLINE | ID: mdl-36950378

19.

Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations.

Rizig, Mie; Bandres-Ciga, Sara; Makarious, Mary B; Ojo, Oluwadamilola; Crea, Peter Wild; Abiodun, Oladunni; Levine, Kristin S; Abubakar, Sani; Achoru, Charles; Vitale, Dan; Adeniji, Olaleye; Agabi, Osigwe; Koretsky, Mathew J; Agulanna, Uchechi; Hall, Deborah A; Akinyemi, Rufus; Xie, Tao; Ali, Mohammed; Shamim, Ejaz A; Ani-Osheku, Ifeyinwa; Padmanaban, Mahesh; Arigbodi, Owotemu; Standaert, David G; Bello, Abiodun; Dean, Marissa; Erameh, Cyril; Elsayed, Inas; Farombi, Temitope; Okunoye, Olaitan; Fawale, Michael; Billingsley, Kimberley J; Imarhiagbe, Frank; Jerez, Pilar Alvarez; Iwuozo, Emmanuel; Baker, Breeana; Komolafe, Morenikeji; Malik, Laksh; Nwani, Paul; Daida, Kensuke; Nwazor, Ernest; Miano-Burkhardt, Abigail; Nyandaiti, Yakub; Fang, Zih-Hua; Obiabo, Yahaya; Kluss, Jillian H; Odeniyi, Olanike; Hernandez, Dena; Odiase, Francis; Tayebi, Nahid; Ojini, Francis.

medRxiv ; 2023 May 07.

Artículo en Inglés | MEDLINE | ID: mdl-37398408

20.

Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.

Rizig, Mie; Bandres-Ciga, Sara; Makarious, Mary B; Ojo, Oluwadamilola Omolara; Crea, Peter Wild; Abiodun, Oladunni Victoria; Levine, Kristin S; Abubakar, Sani Atta; Achoru, Charles Obiora; Vitale, Dan; Adeniji, Olaleye Akinmola; Agabi, Osigwe Paul; Koretsky, Mathew J; Agulanna, Uchechi; Hall, Deborah A; Akinyemi, Rufus Olusola; Xie, Tao; Ali, Mohammed Wulgo; Shamim, Ejaz A; Ani-Osheku, Ifeyinwa; Padmanaban, Mahesh; Arigbodi, Ohwotemu Michael; Standaert, David G; Bello, Abiodun Hamzat; Dean, Marissa N; Erameh, Cyril Oshomah; Elsayed, Inas; Farombi, Temitope Hannah; Okunoye, Olaitan; Fawale, Michael Bimbola; Billingsley, Kimberley J; Imarhiagbe, Frank Aiwansoba; Jerez, Pilar Alvarez; Iwuozo, Emmanuel Uzodinma; Baker, Breeana; Komolafe, Morenikeji Adeyoyin; Malik, Laksh; Nwani, Paul Osemeke; Daida, Kensuke; Nwazor, Ernest Okwundu; Miano-Burkhardt, Abigail; Nyandaiti, Yakub Wilberforce; Fang, Zih-Hua; Obiabo, Yahaya Olugbo; Kluss, Jillian H; Odeniyi, Olanike Adedoyin; Hernandez, Dena G; Odiase, Francis Ehidiamen; Tayebi, Nahid; Ojini, Francis Ibe.

Lancet Neurol ; 22(11): 1015-1025, 2023 11.

Artículo en Inglés | MEDLINE | ID: mdl-37633302

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Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencing.

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.

Genome-Wide Analysis of Structural Variants in Parkinson Disease.

Large-scale rare variant burden testing in Parkinson's disease.

The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.

Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.

Letter to the editor regarding "TGM6 variants in Parkinson's disease: clinical findings and functional evidence".

Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways.

A SINE-VNTR-Alu in the LRIG2 Promoter Is Associated with Gene Expression at the Locus.

The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome.

Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.

Assessing methylation detection for primary human tissue using Nanopore sequencing.

A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models.

Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.

Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.

Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.

The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.

Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations.

Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.