Benjamin Rodriguez-Santiago

Benjamin Rodriguez-Santiago

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Benjamin Rodriguez-Santiago

Benjamin Rodriguez-Santiago

Publications by authors named "Benjamin Rodriguez-Santiago"

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31Publications

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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

J Med Genet 2019 Oct 5. Epub 2019 Oct 5.

Department of Genetics, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona (UAB), Barcelona, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2019-106249DOI Listing
October 2019

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

Eur J Med Genet 2019 Mar 10;62(3):182-185. Epub 2018 Jul 10.

Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.007DOI Listing
March 2019

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

Hum Mutat 2016 06 15;37(6):516-23. Epub 2016 Apr 15.

Unit of Medical Genomics, Department of Obstetrics, Gynaecology and Reproduction, Dexeus Women's Health, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.22989DOI Listing
June 2016

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.

Authors:
Mitchell J Machiela Weiyin Zhou Eric Karlins Joshua N Sampson Neal D Freedman Qi Yang Belynda Hicks Casey Dagnall Christopher Hautman Kevin B Jacobs Christian C Abnet Melinda C Aldrich Christopher Amos Laufey T Amundadottir Alan A Arslan Laura E Beane-Freeman Sonja I Berndt Amanda Black William J Blot Cathryn H Bock Paige M Bracci Louise A Brinton H Bas Bueno-de-Mesquita Laurie Burdett Julie E Buring Mary A Butler Federico Canzian Tania Carreón Kari G Chaffee I-Shou Chang Nilanjan Chatterjee Chu Chen Constance Chen Kexin Chen Charles C Chung Linda S Cook Marta Crous Bou Michael Cullen Faith G Davis Immaculata De Vivo Ti Ding Jennifer Doherty Eric J Duell Caroline G Epstein Jin-Hu Fan Jonine D Figueroa Joseph F Fraumeni Christine M Friedenreich Charles S Fuchs Steven Gallinger Yu-Tang Gao Susan M Gapstur Montserrat Garcia-Closas Mia M Gaudet J Michael Gaziano Graham G Giles Elizabeth M Gillanders Edward L Giovannucci Lynn Goldin Alisa M Goldstein Christopher A Haiman Goran Hallmans Susan E Hankinson Curtis C Harris Roger Henriksson Elizabeth A Holly Yun-Chul Hong Robert N Hoover Chao A Hsiung Nan Hu Wei Hu David J Hunter Amy Hutchinson Mazda Jenab Christoffer Johansen Kay-Tee Khaw Hee Nam Kim Yeul Hong Kim Young Tae Kim Alison P Klein Robert Klein Woon-Puay Koh Laurence N Kolonel Charles Kooperberg Peter Kraft Vittorio Krogh Robert C Kurtz Andrea LaCroix Qing Lan Maria Teresa Landi Loic Le Marchand Donghui Li Xiaolin Liang Linda M Liao Dongxin Lin Jianjun Liu Jolanta Lissowska Lingeng Lu Anthony M Magliocco Nuria Malats Keitaro Matsuo Lorna H McNeill Robert R McWilliams Beatrice S Melin Lisa Mirabello Lee Moore Sara H Olson Irene Orlow Jae Yong Park Ana Patiño-Garcia Beata Peplonska Ulrike Peters Gloria M Petersen Loreall Pooler Jennifer Prescott Ludmila Prokunina-Olsson Mark P Purdue You-Lin Qiao Preetha Rajaraman Francisco X Real Elio Riboli Harvey A Risch Benjamin Rodriguez-Santiago Avima M Ruder Sharon A Savage Fredrick Schumacher Ann G Schwartz Kendra L Schwartz Adeline Seow Veronica Wendy Setiawan Gianluca Severi Hongbing Shen Xin Sheng Min-Ho Shin Xiao-Ou Shu Debra T Silverman Margaret R Spitz Victoria L Stevens Rachael Stolzenberg-Solomon Daniel Stram Ze-Zhong Tang Philip R Taylor Lauren R Teras Geoffrey S Tobias David Van Den Berg Kala Visvanathan Sholom Wacholder Jiu-Cun Wang Zhaoming Wang Nicolas Wentzensen William Wheeler Emily White John K Wiencke Brian M Wolpin Maria Pik Wong Chen Wu Tangchun Wu Xifeng Wu Yi-Long Wu Jay S Wunder Lucy Xia Hannah P Yang Pan-Chyr Yang Kai Yu Krista A Zanetti Anne Zeleniuch-Jacquotte Wei Zheng Baosen Zhou Regina G Ziegler Luis A Perez-Jurado Neil E Caporaso Nathaniel Rothman Margaret Tucker Michael C Dean Meredith Yeager Stephen J Chanock

Nat Commun 2016 06 13;7:11843. Epub 2016 Jun 13.

Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/ncomms11843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909985PMC
June 2016

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.

Cytogenet Genome Res 2015 18;146(3):181-6. Epub 2015 Sep 18.

x00C0;rea de Genx00E8;tica Clx00ED;nica i Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1159/000439463DOI Listing
January 2016

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Mol Autism 2015 15;6:21. Epub 2015 Apr 15.

Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain.

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http://dx.doi.org/10.1186/s13229-015-0017-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427998PMC
May 2015

Characterization of large structural genetic mosaicism in human autosomes.

Authors:
Mitchell J Machiela Weiyin Zhou Joshua N Sampson Michael C Dean Kevin B Jacobs Amanda Black Louise A Brinton I-Shou Chang Chu Chen Constance Chen Kexin Chen Linda S Cook Marta Crous Bou Immaculata De Vivo Jennifer Doherty Christine M Friedenreich Mia M Gaudet Christopher A Haiman Susan E Hankinson Patricia Hartge Brian E Henderson Yun-Chul Hong H Dean Hosgood Chao A Hsiung Wei Hu David J Hunter Lea Jessop Hee Nam Kim Yeul Hong Kim Young Tae Kim Robert Klein Peter Kraft Qing Lan Dongxin Lin Jianjun Liu Loic Le Marchand Xiaolin Liang Jolanta Lissowska Lingeng Lu Anthony M Magliocco Keitaro Matsuo Sara H Olson Irene Orlow Jae Yong Park Loreall Pooler Jennifer Prescott Radhai Rastogi Harvey A Risch Fredrick Schumacher Adeline Seow Veronica Wendy Setiawan Hongbing Shen Xin Sheng Min-Ho Shin Xiao-Ou Shu David VanDen Berg Jiu-Cun Wang Nicolas Wentzensen Maria Pik Wong Chen Wu Tangchun Wu Yi-Long Wu Lucy Xia Hannah P Yang Pan-Chyr Yang Wei Zheng Baosen Zhou Christian C Abnet Demetrius Albanes Melinda C Aldrich Christopher Amos Laufey T Amundadottir Sonja I Berndt William J Blot Cathryn H Bock Paige M Bracci Laurie Burdett Julie E Buring Mary A Butler Tania Carreón Nilanjan Chatterjee Charles C Chung Michael B Cook Michael Cullen Faith G Davis Ti Ding Eric J Duell Caroline G Epstein Jin-Hu Fan Jonine D Figueroa Joseph F Fraumeni Neal D Freedman Charles S Fuchs Yu-Tang Gao Susan M Gapstur Ana Patiño-Garcia Montserrat Garcia-Closas J Michael Gaziano Graham G Giles Elizabeth M Gillanders Edward L Giovannucci Lynn Goldin Alisa M Goldstein Mark H Greene Goran Hallmans Curtis C Harris Roger Henriksson Elizabeth A Holly Robert N Hoover Nan Hu Amy Hutchinson Mazda Jenab Christoffer Johansen Kay-Tee Khaw Woon-Puay Koh Laurence N Kolonel Charles Kooperberg Vittorio Krogh Robert C Kurtz Andrea LaCroix Annelie Landgren Maria Teresa Landi Donghui Li Linda M Liao Nuria Malats Katherine A McGlynn Lorna H McNeill Robert R McWilliams Beatrice S Melin Lisa Mirabello Beata Peplonska Ulrike Peters Gloria M Petersen Ludmila Prokunina-Olsson Mark Purdue You-Lin Qiao Kari G Rabe Preetha Rajaraman Francisco X Real Elio Riboli Benjamín Rodríguez-Santiago Nathaniel Rothman Avima M Ruder Sharon A Savage Ann G Schwartz Kendra L Schwartz Howard D Sesso Gianluca Severi Debra T Silverman Margaret R Spitz Victoria L Stevens Rachael Stolzenberg-Solomon Daniel Stram Ze-Zhong Tang Philip R Taylor Lauren R Teras Geoffrey S Tobias Kala Viswanathan Sholom Wacholder Zhaoming Wang Stephanie J Weinstein William Wheeler Emily White John K Wiencke Brian M Wolpin Xifeng Wu Jay S Wunder Kai Yu Krista A Zanetti Anne Zeleniuch-Jacquotte Regina G Ziegler Mariza de Andrade Kathleen C Barnes Terri H Beaty Laura J Bierut Karl C Desch Kimberly F Doheny Bjarke Feenstra David Ginsburg John A Heit Jae H Kang Cecilia A Laurie Jun Z Li William L Lowe Mary L Marazita Mads Melbye Daniel B Mirel Jeffrey C Murray Sarah C Nelson Louis R Pasquale Kenneth Rice Janey L Wiggs Anastasia Wise Margaret Tucker Luis A Pérez-Jurado Cathy C Laurie Neil E Caporaso Meredith Yeager Stephen J Chanock

Am J Hum Genet 2015 Mar;96(3):487-97

Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375431PMC
March 2015

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.

Am J Med Genet A 2013 Aug 21;161A(8):2030-5. Epub 2013 Jun 21.

Unidad de Genética Médica y Dismorfología, Servicio de Pediatría, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36007DOI Listing
August 2013

Detectable clonal mosaicism and its relationship to aging and cancer.

Authors:
Kevin B Jacobs Meredith Yeager Weiyin Zhou Sholom Wacholder Zhaoming Wang Benjamin Rodriguez-Santiago Amy Hutchinson Xiang Deng Chenwei Liu Marie-Josephe Horner Michael Cullen Caroline G Epstein Laurie Burdett Michael C Dean Nilanjan Chatterjee Joshua Sampson Charles C Chung Joseph Kovaks Susan M Gapstur Victoria L Stevens Lauren T Teras Mia M Gaudet Demetrius Albanes Stephanie J Weinstein Jarmo Virtamo Philip R Taylor Neal D Freedman Christian C Abnet Alisa M Goldstein Nan Hu Kai Yu Jian-Min Yuan Linda Liao Ti Ding You-Lin Qiao Yu-Tang Gao Woon-Puay Koh Yong-Bing Xiang Ze-Zhong Tang Jin-Hu Fan Melinda C Aldrich Christopher Amos William J Blot Cathryn H Bock Elizabeth M Gillanders Curtis C Harris Christopher A Haiman Brian E Henderson Laurence N Kolonel Loic Le Marchand Lorna H McNeill Benjamin A Rybicki Ann G Schwartz Lisa B Signorello Margaret R Spitz John K Wiencke Margaret Wrensch Xifeng Wu Krista A Zanetti Regina G Ziegler Jonine D Figueroa Montserrat Garcia-Closas Nuria Malats Gaelle Marenne Ludmila Prokunina-Olsson Dalsu Baris Molly Schwenn Alison Johnson Maria Teresa Landi Lynn Goldin Dario Consonni Pier Alberto Bertazzi Melissa Rotunno Preetha Rajaraman Ulrika Andersson Laura E Beane Freeman Christine D Berg Julie E Buring Mary A Butler Tania Carreon Maria Feychting Anders Ahlbom J Michael Gaziano Graham G Giles Goran Hallmans Susan E Hankinson Patricia Hartge Roger Henriksson Peter D Inskip Christoffer Johansen Annelie Landgren Roberta McKean-Cowdin Dominique S Michaud Beatrice S Melin Ulrike Peters Avima M Ruder Howard D Sesso Gianluca Severi Xiao-Ou Shu Kala Visvanathan Emily White Alicja Wolk Anne Zeleniuch-Jacquotte Wei Zheng Debra T Silverman Manolis Kogevinas Juan R Gonzalez Olaya Villa Donghui Li Eric J Duell Harvey A Risch Sara H Olson Charles Kooperberg Brian M Wolpin Li Jiao Manal Hassan William Wheeler Alan A Arslan H Bas Bueno-de-Mesquita Charles S Fuchs Steven Gallinger Myron D Gross Elizabeth A Holly Alison P Klein Andrea LaCroix Margaret T Mandelson Gloria Petersen Marie-Christine Boutron-Ruault Paige M Bracci Federico Canzian Kenneth Chang Michelle Cotterchio Edward L Giovannucci Michael Goggins Judith A Hoffman Bolton Mazda Jenab Kay-Tee Khaw Vittorio Krogh Robert C Kurtz Robert R McWilliams Julie B Mendelsohn Kari G Rabe Elio Riboli Anne Tjønneland Geoffrey S Tobias Dimitrios Trichopoulos Joanne W Elena Herbert Yu Laufey Amundadottir Rachael Z Stolzenberg-Solomon Peter Kraft Fredrick Schumacher Daniel Stram Sharon A Savage Lisa Mirabello Irene L Andrulis Jay S Wunder Ana Patiño García Luis Sierrasesúmaga Donald A Barkauskas Richard G Gorlick Mark Purdue Wong-Ho Chow Lee E Moore Kendra L Schwartz Faith G Davis Ann W Hsing Sonja I Berndt Amanda Black Nicolas Wentzensen Louise A Brinton Jolanta Lissowska Beata Peplonska Katherine A McGlynn Michael B Cook Barry I Graubard Christian P Kratz Mark H Greene Ralph L Erickson David J Hunter Gilles Thomas Robert N Hoover Francisco X Real Joseph F Fraumeni Neil E Caporaso Margaret Tucker Nathaniel Rothman Luis A Pérez-Jurado Stephen J Chanock

Nat Genet 2012 May 6;44(6):651-8. Epub 2012 May 6.

Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), Rockville, Maryland, USA.

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http://dx.doi.org/10.1038/ng.2270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372921PMC
May 2012

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

J Med Genet 2011 Nov 3;48(11):776-8. Epub 2011 Oct 3.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2011-100147
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http://dx.doi.org/10.1136/jmedgenet-2011-100147DOI Listing
November 2011

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

Eur J Hum Genet 2009 Jan 20;17(1):71-9. Epub 2008 Aug 20.

Medical and Molecular Genetics Center, IDIBELL, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2008.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985956PMC
January 2009

Expression of mitochondrial genes and transcription estimation in different brain areas in Alzheimer's disease patients.

Neurobiol Dis 2005 Mar;18(2):296-304

Medical and Molecular Genetics Center-Institut de Recerca Oncologica, IDIBELL, Hospital Duran i Reynals, Gran Via s/n, L'Hospitalet del Llobregat 08907, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.nbd.2004.10.004DOI Listing
March 2005

Mitochondrial respiratory chain in brain homogenates: activities in different brain areas in patients with Alzheimer's disease.

Aging Clin Exp Res 2005 Feb;17(1):1-7

Muscle Research Unit, Internal Medicine Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1007/bf03337713DOI Listing
February 2005

Mitochondrial effects of antiretroviral therapies in asymptomatic patients.

Antivir Ther 2004 Feb;9(1):47-55

Muscle Research Unit, Department of Internal Medicine, Hospital Clinic, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), School of Medicine, University of Barcelona, Barcelona, Catalonia, Spain.

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February 2004

Short communication: reversible mitochondrial respiratory chain impairment during symptomatic hyperlactatemia associated with antiretroviral therapy.

AIDS Res Hum Retroviruses 2003 Nov;19(11):1027-32

Mitochondrial Research Laboratory, Department of Internal Medicine, Hospital Clínic, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), School of Medicine, University of Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1089/088922203322588387DOI Listing
November 2003