检索结果 - Christopher M. Grochowski

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  1. 1
    Jagged1 (JAG1): Structure, expression, and disease associations

    Jagged1 (JAG1): Structure, expression, and disease associations 由 Christopher M. Grochowski, Kathleen M. Loomes, Nancy B. Spinner

    出版 2015
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  2. 2
    Complex genomic rearrangements: an underestimated cause of rare diseases

    Complex genomic rearrangements: an underestimated cause of rare diseases 由 Jakob Schuy, Christopher M. Grochowski, Claudia M.B. Carvalho, Anna Lindstrand

    出版 2022
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  3. 3
    Heterozygous Deletion of<i>FOXA2</i>Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia

    Heterozygous Deletion of<i>FOXA2</i>Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia 由 Ellen Tsai, Christopher M. Grochowski, Alexandra M. Falsey, Ramakrishnan Rajagopalan, Danielle Wendel, Marcella Devoto, Ian D. Krantz, Kathleen M. Loomes, Nancy B. Spinner

    出版 2015
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  4. 4
    Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

    Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia 由 Ellen Tsai, Christopher M. Grochowski, Kathleen M. Loomes, Kazuhiko Bessho, Hákon Hákonarson, Jorge A. Bezerra, Pierre Russo, Barbara Haber, Nancy B. Spinner, Marcella Devoto

    出版 2013
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  5. 5
    A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

    A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report 由 Judith R. Kelsen, Noor Dawany, Alejuandro Martinez, Christopher M. Grochowski, Kelly Maurer, Eric Rappaport, David A. Piccoli, Robert N. Baldassano, Petar Mamula, Kathleen E. Sullivan, Marcella Devoto

    出版 2015
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  6. 6
    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome 由 Christopher M. Grochowski, Ana Cristina Victorino Krepischi, Jesper Eisfeldt, Haowei Du, Débora Romeo Bertola, Danyllo Oliveira, Silvia Souza da Costa, James R. Lupski, Anna Lindstrand, Claudia M.B. Carvalho

    出版 2021
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  7. 7
    A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

    A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 由 Ying Chen, Melissa A. Gilbert, Christopher M. Grochowski, Deborah McEldrew, Jessica Llewellyn, Orith Waisbourd‐Zinman, Hákon Hákonarson, Joan E. Bailey‐Wilson, Pierre Russo, Rebecca G. Wells, Kathleen M. Loomes, Nancy B. Spinner, Marcella Devoto

    出版 2018
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  8. 8
    Comprehensive Structural Variant Detection: From Mosaic to Population-Level

    Comprehensive Structural Variant Detection: From Mosaic to Population-Level 由 Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehli̇van, Sonja W. Scholz, Claudia M.B. Carvalho, Christos Proukakis, Fritz J. Sedlazeck

    出版 2022
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  9. 9
    Detection of mosaic and population-level structural variants with Sniffles2

    Detection of mosaic and population-level structural variants with Sniffles2 由 Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehli̇van, Sonja W. Scholz, Claudia M.B. Carvalho, Christos Proukakis, Fritz J. Sedlazeck

    出版 2024
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  10. 10
    Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2

    Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2 由 Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehli̇van, Sonja W. Scholz, Claudia M.B. Carvalho, Christos Proukakis, Fritz J. Sedlazeck

    出版 2024
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  11. 11
    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome 由 Chaofan Zhang, Juliana F. Mazzeu, Jesper Eisfeldt, Christopher M. Grochowski, Janson J. White, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Anna Lindstrand, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

    出版 2020
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  12. 12
    Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome

    Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome 由 Bianca Barbosa Abdala, Andressa Pereira Gonçalves, Jussara Mendonça dos Santos, Raquel Boy, Claudia M.B. Carvalho, Christopher M. Grochowski, Ana Cristina Victorino Krepischi, Carla Rosenberg, Leonor Gusmão, Davut Pehli̇van, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças

    出版 2021
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  13. 13
    THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

    THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome 由 Ellen Tsai, Melissa A. Gilbert, Christopher M. Grochowski, Lara A. Underkoffler, He Meng, Xiaojie Zhang, Michael M. Wang, Hailu Shitaye, Kurt D. Hankenson, David A. Piccoli, Henry C. Lin, Binita M. Kamath, Marcella Devoto, Nancy B. Spinner, Kathleen M. Loomes

    出版 2016
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  14. 14
    Alagille syndrome mutation update: Comprehensive overview of<i>JAG1</i>and<i>NOTCH2</i>mutation frequencies and insight into missense variant classification

    Alagille syndrome mutation update: Comprehensive overview of<i>JAG1</i>and<i>NOTCH2</i>mutation frequencies and insight into missense variant classification 由 Melissa A. Gilbert, Robert C. Bauer, Ramakrishnan Rajagopalan, Christopher M. Grochowski, Grace F. Chao, Deborah McEldrew, James A. Nassur, Elizabeth B. Rand, Bryan L. Krock, Binita M. Kamath, Ian D. Krantz, David A. Piccoli, Kathleen M. Loomes, Nancy B. Spinner

    出版 2019
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  15. 15
    Cytogenetically visible inversions are formed by multiple molecular mechanisms

    Cytogenetically visible inversions are formed by multiple molecular mechanisms 由 Maria Pettersson, Christopher M. Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M. Breman, Sau Wai Cheung, Ana Cristina Victorino Krepischi, Carla Rosenberg, James R. Lupski, Jesper Ottosson, Lovisa Lovmar, Jelena Gacic, Elisabeth Syk Lundberg, Daniel Nilsson, Claudia M.B. Carvalho, Anna Lindstrand

    出版 2020
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  16. 16
    NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

    NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy 由 Zain Dardas, Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski, Edward G. Jones, Shalini N. Jhangiani, Xander H.T. Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E. Posey, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Zeynep Coban‐Akdemir, Shaine A. Morris

    出版 2024
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  17. 17
    Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

    Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions 由 Tomasz Gambin, Qian Liu, Justyna A. Karolak, Christopher M. Grochowski, Nina Guanyi Xie, Lucia R. Wu, Yan Helen Yan, Ye Cao, Zeynep H. Coban Akdemir, Theresa A. Wilson, Shalini N. Jhangiani, Ed Chen, Christine M. Eng, Donna M. Muzny, Jennifer E. Posey, Yaping Yang, David Y. Zhang, Chad A. Shaw, Pengfei Liu, James R. Lupski, Paweł Stankiewicz

    出版 2020
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  18. 18
    Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

    Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism 由 Adam C. Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen Stals, Romina Durigon, Karina Durlacher-Betzer, Mitch Cunningham, Christopher M. Grochowski, Júlia Baptista, Carolyn Tysoe, Emma L. Baple, Nayana Lahiri, Tessa Homfray, Ingrid Scurr, Catherine Armstrong, John Dean, Uxoa Fernández‐Pelayo, Aleck W.E. Jones, Robert W. Taylor, Vinod K. Misra, Wan Hee Yoon, Caroline F. Wright, James R. Lupski, Antonella Spinazzola, Tamar Harel, Ian Holt, Sian Ellard

    出版 2020
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  19. 19
    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability 由 Ruizhi Duan, Hadia Hijazi, Elif Yılmaz Güleç, Hatice Koçak Eker, Silvia R. Costa, Yavuz Şahin, Zeynep Ocak, Sedat Işıkay, Özge Özalp, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Nursel Elçioǧlu, Débora Romeo Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gülsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban‐Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehli̇van, Richard A. Gibbs, James R. Lupski

    出版 2022
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  20. 20
    Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene

    Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene 由 J. Alexander Bodkin, Michael J. Coleman, Laura Godfrey, Claudia M.B. Carvalho, Charity J. Morgan, Raymond F. Suckow, Thea Anderson, Döst Öngür, Marc J. Kaufman, Kathryn E. Lewandowski, Arthur J. Siegel, Elliot Waldstreicher, Christopher M. Grochowski, Daniel C. Javitt, Dan Rujescu, Scott J. Hebbring, Richard Weinshilboum, Stephanie Burgos Rodriguez, Colette Kirchhoff, Timothy Visscher, Alexander Vuckovic, Allison Fialkowski, Shane McCarthy, Dheeraj Malhotra, Jonathan Sebat, Donald Goff, James I. Hudson, James R. Lupski, Joseph T. Coyle, Uwe Rudolph, Deborah L. Levy

    出版 2019
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