نتائج البحث - "Carvalho, Claudia M B"

1

Report

GREGoR: Accelerating Genomics for Rare Diseases

مصطلحات موضوعية: Quantitative Biology - Other Quantitative Biology

URL الوصول: http://arxiv.org/abs/2412.14338

View record in Arxiv

2

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

المصدر: Genome Research. 34(11):1785-1797

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-545645
https://doi.org/10.1101/gr.279346.124

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3

Academic Journal

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

المصدر: Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncanson, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E L M; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M; Lyons, Michael J; Carvalho, Claudia M B; Zhang, Chaofan; Lupski, James R; Potocki, Lorraine; et al (2024). Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Medicine, 16(72):72.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics, Genetics (clinical), Mesomelic dysplasia, Horseshoe kidney, Intellectual disability, Transcriptome, Zebrafish model

وصف الملف: application/pdf; other

Relation: https://www.zora.uzh.ch/id/eprint/260019/1/s13073_024_01339_y.pdf; https://www.zora.uzh.ch/id/eprint/260019/13/Additional_File_1.pdf; https://www.zora.uzh.ch/id/eprint/260019/14/Additional_File_2.pdf; https://www.zora.uzh.ch/id/eprint/260019/4/13073_2024_1339_MOESM3_ESM.xlsx; info:pmid/38811945; urn:issn:1756-994X

الاتاحة: https://www.zora.uzh.ch/id/eprint/260019/
https://www.zora.uzh.ch/id/eprint/260019/1/s13073_024_01339_y.pdf
https://www.zora.uzh.ch/id/eprint/260019/13/Additional_File_1.pdf
https://www.zora.uzh.ch/id/eprint/260019/14/Additional_File_2.pdf
https://www.zora.uzh.ch/id/eprint/260019/4/13073_2024_1339_MOESM3_ESM.xlsx

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4

Academic Journal

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

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

المساهمون: Karolinska Institutet, Vetenskapsrådet

المصدر: Acta Obstetricia et Gynecologica Scandinavica ; volume 103, issue 8, page 1564-1569 ; ISSN 0001-6349 1600-0412

الاتاحة: http://dx.doi.org/10.1111/aogs.14898
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1111/aogs.14898

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5

Academic Journal

Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2

المؤلفون: Smolka, Moritz, Paulin, Luis F., Grochowski, Christopher M., Horner, Dominic W., Mahmoud, Medhat, Behera, Sairam, Kalef-Ezra, Ester, Gandhi, Mira, Hong, Karl, Pehlivan, Davut, Scholz, Sonja W., Carvalho, Claudia M. B., Proukakis, Christos, Sedlazeck, Fritz J.

المصدر: Nature Biotechnology ; volume 42, issue 10, page 1616-1616 ; ISSN 1087-0156 1546-1696

الاتاحة: https://doi.org/10.1038/s41587-024-02141-2
https://www.nature.com/articles/s41587-024-02141-2.pdf
https://www.nature.com/articles/s41587-024-02141-2

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6

Academic Journal

Detection of mosaic and population-level structural variants with Sniffles2

المؤلفون: Smolka, Moritz, Paulin, Luis F., Grochowski, Christopher M., Horner, Dominic W., Mahmoud, Medhat, Behera, Sairam, Kalef-Ezra, Ester, Gandhi, Mira, Hong, Karl, Pehlivan, Davut, Scholz, Sonja W., Carvalho, Claudia M. B., Proukakis, Christos, Sedlazeck, Fritz J.

المصدر: Nature Biotechnology ; ISSN 1087-0156 1546-1696

الاتاحة: http://dx.doi.org/10.1038/s41587-023-02024-y
https://www.nature.com/articles/s41587-023-02024-y.pdf
https://www.nature.com/articles/s41587-023-02024-y

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7

Cytogenetically visible inversions are formed by multiple molecular mechanisms

المؤلفون: Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna

المصدر: Human Mutation. 41(11):1979-1998

مصطلحات موضوعية: chromosomal inversions, nonallelic homologous recombination, nonhomologous end-joining, recombinant chromosomes, replication-based repair mechanisms, whole-genome sequencing

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-170533
https://liu.diva-portal.org/smash/get/diva2:1476992/FULLTEXT01.pdf

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8

Academic Journal

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

المؤلفون: Du, Haowei, Dardas, Zain, Jolly, Angad, Grochowski, Christopher M, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Yesil, Gozde, Elçioglu, Nursel H, Gezdirici, Alper, Marafi, Dana, Pehlivan, Davut, Calame, Daniel G, Carvalho, Claudia M B, Posey, Jennifer E, Gambin, Tomasz, Coban-Akdemir, Zeynep, Lupski, James R

المساهمون: US National Institutes of Health, National Human Genome Research Institute, NHLBI, NHGRI Genomic Research Elucidates Genetics of Rare disease, National Institute of General Medical Sciences, National Institute for Neurological Disorders and Stroke, Rett Syndrome Research Trust, International Rett Syndrome Foundation, Doris Duke Charitable Foundation, United States National Institute of Health, Child Neurologist Career Development Program K12 and MDA Development

المصدر: Nucleic Acids Research ; volume 52, issue 4, page e18-e18 ; ISSN 0305-1048 1362-4962

مصطلحات موضوعية: Genetics

الاتاحة: http://dx.doi.org/10.1093/nar/gkad1223
https://academic.oup.com/nar/article-pdf/52/4/e18/56762940/gkad1223.pdf

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9

Academic Journal

Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.

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

المصدر: Human Molecular Genetics; 11/15/2024, Vol. 33 Issue 22, p1986-2001, 16p

10

Electronic Resource

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

المؤلفون: Bassani, Sissy; https://orcid.org/0000-0001-6800-8584, Chrast, Jacqueline, Ambrosini, Giovanna, Voisin, Norine, Schütz, Frédéric, Brusco, Alfredo; https://orcid.org/0000-0002-8318-7231, Sirchia, Fabio, Turban, Lydia, Schubert, Susanna, Abou Jamra, Rami; https://orcid.org/0000-0002-1542-1399, Schlump, Jan-Ulrich, DeMille, Desiree, Bayrak-Toydemir, Pinar, Nelson, Gary Rex, Wong, Kristen Nicole, Duncanson, Laura, Mosera, Mackenzie, Gilissen, Christian; https://orcid.org/0000-0003-1693-9699, Vissers, Lisenka E L M, Pfundt, Rolph, Kersseboom, Rogier, Yttervik, Hilde, Hansen, Geir Åsmund Myge, Smeland, Marie Falkenberg, Butler, Kameryn M, Lyons, Michael J, Carvalho, Claudia M B, Zhang, Chaofan, Lupski, James R, Potocki, Lorraine, et al

المصدر: Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncanson, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E L M; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M; Lyons, Michael J; Carvalho, Claudia M B; Zhang, Chaofan; Lupski, James R; Potocki, Lorraine; et al (2024). Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Medicine, 16(72):72.

مصطلحات الفهرس: Institute of Medical Genetics, 570 Life sciences; biology, 610 Medicine & health, Genetics, Genetics (clinical), Mesomelic dysplasia, Horseshoe kidney, Intellectual disability, Transcriptome, Zebrafish model, Journal Article, PeerReviewed, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: https://www.zora.uzh.ch/id/eprint/260019/
https://www.zora.uzh.ch/id/eprint/260019
Corpus ID: 270122121 / PMCID: PMC11137988
10.1186/s13073-024-01339-y

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11

Academic Journal

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

المؤلفون: Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia M B, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh ichi, Undiagnosed Diseases Network, missing, Telethon Undiagnosed Diseases Program, missing

المصدر: BRAIN ; ISSN: 0006-8950 ; ISSN: 1460-2156

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, Neurology (clinical), neuronal migration, axon guidance, brain development, small GTPase, RAC3

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8770410; http://hdl.handle.net/1854/LU-8770410; http://dx.doi.org/10.1093/brain/awac106; https://biblio.ugent.be/publication/8770410/file/8770411

الاتاحة: https://biblio.ugent.be/publication/8770410
http://hdl.handle.net/1854/LU-8770410
https://doi.org/10.1093/brain/awac106
https://biblio.ugent.be/publication/8770410/file/8770411

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12

Academic Journal

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

المساهمون: National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke

المصدر: Genome Medicine ; volume 14, issue 1 ; ISSN 1756-994X

الاتاحة: http://dx.doi.org/10.1186/s13073-022-01123-w
https://link.springer.com/content/pdf/10.1186/s13073-022-01123-w.pdf
https://link.springer.com/article/10.1186/s13073-022-01123-w/fulltext.html

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13

Academic Journal

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

المؤلفون: da Costa, Silvia Souza, Fishman, Veniamin, Pinheiro, Mara, Rodrigueiro, Andre, Sanseverino, Maria Teresa, Zielinsky, Paulo, Carvalho, Claudia M. B., Rosenberg, Carla, Krepischi, Ana Cristina Victorino

المصدر: Chromosome Research; Jun2024, Vol. 32 Issue 2, p1-13, 13p

14

Academic Journal

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

المؤلفون: Pehlivan, Davut, Bengtsson, Jesse D, Bajikar, Sameer S, Grochowski, Christopher M, Lun, Ming Yin, Gandhi, Mira, Jolly, Angad, Trostle, Alexander J, Harris, Holly K, Suter, Bernhard, Aras, Sukru, Ramocki, Melissa B, Du, Haowei, Mehaffey, Michele G, Park, KyungHee, Wilkey, Ellen, Karakas, Cemal, Eisfeldt, Jesper J, Pettersson, Maria, Liu, Lynn, Shinawi, Marwan S, Kimonis, Virginia E, Wiszniewski, Wojciech, Mckenzie, Kyle, Roser, Timo, Vianna-Morgante, Angela M, Cornier, Alberto S, Abdelmoity, Ahmed, Hwang, James P, Jhangiani, Shalini N, Muzny, Donna M, Mitani, Tadahiro, Muramatsu, Kazuhiro, Nabatame, Shin, Glaze, Daniel G, Fatih, Jawid M, Gibbs, Richard A, Liu, Zhandong, Lindstrand, Anna, Sedlazeck, Fritz J, Lupski, James R, Zoghbi, Huda Y, Carvalho, Claudia M B

المصدر: Genome Med ; ISSN:1756-994X ; Volume:16 ; Issue:1

مصطلحات موضوعية: MECP2 duplication syndrome, Clinical severity, MRXSL, Survival, Tandem duplication, Terminal duplication

Relation: https://doi.org/10.1186/s13073-024-01411-7; https://pubmed.ncbi.nlm.nih.gov/39696717; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11658439/

الاتاحة: https://doi.org/10.1186/s13073-024-01411-7
https://pubmed.ncbi.nlm.nih.gov/39696717
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11658439/

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15

Academic Journal

A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.

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

المصدر: Genet Med Open ; ISSN:2949-7744 ; Volume:2

مصطلحات موضوعية: Chromosome 21, Complex genomic rearrangement, Down syndrome critical region, Long-read genome sequencing, Optical genome mapping

Relation: https://doi.org/10.1016/j.gimo.2024.101863; https://pubmed.ncbi.nlm.nih.gov/39669604; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11613786/

الاتاحة: https://doi.org/10.1016/j.gimo.2024.101863
https://pubmed.ncbi.nlm.nih.gov/39669604
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11613786/

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16

Academic Journal

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

المؤلفون: Grochowski, Christopher M., Krepischi, Ana C. V., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.

المساهمون: National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke

المصدر: Frontiers in Genetics ; volume 12 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2021.708348
https://www.frontiersin.org/articles/10.3389/fgene.2021.708348/full

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17

Academic Journal

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

المؤلفون: Saad, Ahmed K, Marafi, Dana, Mitani, Tadahiro, Jolly, Angad, Du, Haowei, Elbendary, Hasnaa M, Jhangiani, Shalini N, Akdemir, Zeynep C, Gibbs, Richard A, Hunter, Jill V, Carvalho, Claudia M B C, Pehlivan, Davut, Posey, Jennifer E, Zaki, Maha S, Lupski, James R

المساهمون: National Human Genome Research Institute, NHGRI, National Heart Lung and Blood Institute, NHBLI, Baylor-Hopkins Center for Mendelian Genomics, BHCMG, Baylor College of Medicine Human Genome Sequencing Center, National Institute of Neurological Disorders and Stroke, NINDS, Muscular Dystrophy Association, United States National Institute of Health, Uehara Memorial Foundation, Clinical Research Training Scholarship in Neuromuscular Disease, American Academy of Neurology, American Brain Foundation, Muscle Study Group, International Rett Syndrome Foundation, United States Agency for International Development

المصدر: Brain ; volume 143, issue 10, page e83-e83 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awaa256
http://academic.oup.com/brain/article-pdf/143/10/e83/34032223/awaa256.pdf

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18

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

المصدر: Genome Medicine. 11(1)

مصطلحات موضوعية: Whole-genome sequencing, Intellectual disability, Monogenic disease, Copy number variation, Structural variation, Single nucleotide variant, Uniparental disomy, Repeat expansion

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-176549
https://doi.org/10.1186/s13073-019-0675-1

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19

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

المؤلفون: Eisfeldt, Jesper, Pettersson, Maria, Vezzi, Francesco, Wincent, Josephine, Käller, Max, Gruselius, Joel, Nilsson, Daniel, Lundberg, Elisabeth Syk, Carvalho, Claudia M. B., Lindstrand, Anna

المصدر: PLOS Genetics. 15(2)

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-167541
https://doi.org/10.1371/journal.pgen.1007858

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20

Academic Journal

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

المساهمون: National Human Genome Research Institute, Natural Science Foundation of Beijing Municipality, National Institutes of Health, National Natural Science Foundation of China

المصدر: Molecular Genetics & Genomic Medicine ; volume 8, issue 1 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.1023
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1023
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1023

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