Claudia Carvalho - Department of Molecular and Human Genetics, Baylor College of Medicine

基本信息

Career Trajectory

Bio

Claudia Carvalho currently works at the Unit for Multidisciplinary Investigation in Biomedicine (UMIB), University of Porto. Claudia does research in Autoimmunity and Genetics. Their current project is 'Genetic and Epigenetic Biomarkers of Autoimmune Diseases'.

Research Interests

Papers共 216 篇Author StatisticsCo-AuthorSimilar Experts

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Closing the gap: Solving complex medically relevant genes at scale

Medhat Mahmoud,John Harting,Holly Corbitt,Xiao Chen,Shalini N Jhangiani,Harsha Doddapaneni,Qingchang Meng,Tina Han,Christine Lambert, Siyuan Zhang,Primo Baybayan,Geoff Henno, Hua Shen,Jianhong Hu,Yi Han, Casey Riegler,Ginger Metcalf,Geoff Henno,Ivan K Chinn, Michael A Eberle,Sarah Kingan, Tim Farinholt,Claudia M B Carvalho,Richard A Gibbs,Zev Kronenberg,Donna Muzny,Fritz J Sedlazeck

medRxiv : the preprint server for health sciences (2024)

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Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing

Josephine Wincent,Hafdís T Helgadóttir,Fotios Sergouniotis, Angelo Salazar Mantero,Claudia M B Carvalho,Helena Malmgren,Anna Lindstrand,Erik Iwarsson

Acta obstetricia et gynecologica Scandinavicano. 8 (2024): 1564-1569

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Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

Kristine Bilgrav Saether,Jesper Eisfeldt,Jesse Bengtsson,Ming Yin Lun,Christopher M Grochowski,Medhat Mahmoud,Hsiao-Tuan Chao,Jill A Rosenfeld,Pengfei Liu,Jakob Schuy,Adam Ameur,Undiagnosed Diseases Network, James Paul Hwang,Fritz J Sedlazeck,Weimin Bi,Ronit Marom,Ann Nordgren,Claudia M B Carvalho,Anna Lindstrand

medRxiv : the preprint server for health sciences (2024)

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A Combination of Long and Short Read Genomics Reveals Frequent P-Arm Breakpoints Within Chromosome 21 Complex Genomic Rearrangements

Jakob Schuy,Kristine Bilgrav Sæther,Jasmin Lisfeld,Marlene Ek,Christopher M. Grochowski,Ming Yin Lun,Alex Hastie, Susanne Rudolph,Sigrid Fuchs,Kornelia Neveling,Maja Hempel,Alexander Hoischen,Maria Pettersson,Claudia M.B. Carvalho,Jesper Eisfeldt,Anna Lindstrand

Genetics in Medicine Openpp.101863-101863, (2024)

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Modeling Antisense Oligonucleotide Therapy in MECP2 Duplication Syndrome Human Ipsc-Derived Neurons Reveals Gene Expression Programs Responsive to MeCP2 Levels

Sameer S. Bajikar,Yehezkel Sztainberg,Alexander J. Trostle, Harini P. Tirumala, Ying-Wooi Wan, Caroline L. Harrop,Jesse D. Bengtsson,Claudia M. B. Carvalho,Davut Pehlivan,Bernhard Suter,Jeffrey L. Neul,Zhandong Liu,Paymaan Jafar-Nejad,Frank Rigo, Huda Y. Zoghbi

Human molecular geneticsno. 22 (2024): 1986-2001

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Genomic Balancing Act: Deciphering DNA Rearrangements in the Complex Chromosomal Aberration Involving 5p15.2, 2q31.1 and 18Q21.32

Zain Dardas,Dana Marafi,Ruizhi Duan,Jawid M. Fatih,Omnia F. El-Rashidy,Christopher M. Grochowski,Claudia M. B. Carvalho,Shalini N. Jhangiani,Weimin Bi,Haowei Du,Richard A. Gibbs,Jennifer E. Posey,Daniel G. Calame,Maha S. Zaki,James R. Lupski

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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Genome-wide Maps of Highly-Similar Intrachromosomal Repeats That Mediate Ectopic Recombination in Three Human Genome Assemblies

Luis Fernandez-Luna, Carlos Aguilar-Perez,Christopher M Grochowski,Michele Mehaffey,Claudia M B Carvalho,Claudia Gonzaga-Jauregui

bioRxiv the preprint server for biology (2024)

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A Complex 9p24 Cryptic Rearrangement Segregating with Heart Defect in Five Generations Unraveled Using a Combined Genomics Approach of Chromosomal Microarray, FISH, Whole-Genome Sequencing and Optical Genome Mapping

Ana Krepischi,Silvia Souza da Costa, Andre Rodrigueiro Clavisio Pereira de Oliveira,Mara Pinheiro,Maria Teresa Sanseverino,Veniamin Fishman,Claudia Carvalho,Carla Rosenberg

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 275-276

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