Skip to contents Lupski, James R. [Editor]; Stankiewicz, Paweł [Other] Genomic disorders : the genomic basis of disease Books Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Totowa, N.J.: Humana Press, 2006 DeBruijn, Frans J. [Other]; Lupski, James R. [Other]; Weinstock, George M. [Other]; Bruijn, Frans J. de [Other] Bacterial genomes : physical structure and analysis Books Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. New York, NY [u.a.]: Chapman & Hall [u.a.], 1998 Lupski, James R. [Other]; Stankiewicz, Pawel [Other] Genomic Disorders : The Genomic Basis of Disease Books View online Schließen > Access Full access (via DOI) Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Totowa, NJ: Humana Press Inc, 2006 Published in: SpringerLink ; Bücher Lupski, James R. [Other]; Stankiewicz, Pawel [Other] Genomic Disorders : The Genomic Basis of Disease Books View online Schließen > Access Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Totowa, NJ: Humana Press Inc, 2006 Published in: SpringerLink ; Bücher Yuan, Bo [Author]; Schulze, Katharina V. [Author]; Assia Batzir, Nurit [Author]; Sinson, Jefferson [Author]; Dai, Hongzheng [Author]; Zhu, Wenmiao [Author]; Bocanegra, Francia [Author]; Fong, Chin-To [Author]; Holder, Jimmy [Author]; Nguyen, Joanne [Author]; Schaaf, Christian P. [Author]; Yang, Yaping [Author]; Bi, Weimin [Author]; Eng, Christine [Author]; Shaw, Chad [Author]; Lupski, James R. [Author]; Liu, Pengfei [Author] Sequencing individual genomes with recurrent genomic disorder deletions : an approach to characterize genes for autosomal recessive rare disease traits Articles View online Schließen > Access Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. 30 September 2022 Published in: Genome medicine ; 14(2022), Artikel-ID 113, Seite 1-24 Martin, Paige B. [Author]; Kigoshi-Tansho, Yu [Author]; Sher, Roger B. [Author]; Ravenscroft, Gianina [Author]; Stauffer, Jennifer E. [Author]; Kumar, Rajesh [Author]; Yonashiro, Ryo [Author]; Müller, Tina [Author]; Griffith, Christopher [Author]; Allen, William [Author]; Pehlivan, Davut [Author]; Haral, Tamar [Author]; Zenker, Martin [Author]; Howting, Denise [Author]; Schanze, Denny [Author]; Faqeih, Eissa A. [Author]; Almontashiri, Naif A. M. [Author]; Maroofian, Reza [Author]; Houlden, Henry [Author]; Mazaheri, Neda [Author]; Galehdari, Hamid [Author]; Douglas, Ganka [Author]; Posey, Jennifer E. [Author]; Ryan, Monique [Author]; [...] NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease Articles View online Schließen > Access Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. 15 September 2020 Published in: Nature Communications ; 11(2020) Artikel-Nummer 4625, 12 Seiten Lupski, James R. Somatic cell structural variant mutagenesis and neurologic disease Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2023 Published in: Cell Genomics Lupski, James R. Clan genomics: From OMIM phenotypic traits to genes and biology Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2021 Published in: American Journal of Medical Genetics Part A Lupski, James R. 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2019 Published in: The American Journal of Human Genetics Lupski, James R. A Human in Human Genetics Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2019 Published in: Cell Lupski, James R. Clinical genomics: from a truly personal genome viewpoint Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2016 Published in: Human Genetics Lupski, James R. Cognitive Phenotypes and Genomic Copy Number Variations Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Medical Association (AMA), 2015 Published in: JAMA Lupski, James R. Structural variation mutagenesis of the human genome: Impact on disease and evolution Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2015 Published in: Environmental and Molecular Mutagenesis Lupski, James R. Genome Mosaicism—One Human, Multiple Genomes Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Association for the Advancement of Science, 2013 Published in: Science Lupski, James R. Brain Copy Number Variants and Neuropsychiatric Traits Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2012 Published in: Biological Psychiatry Lupski, James R Digenic inheritance and Mendelian disease Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2012 Published in: Nature Genetics Lupski, James R. Interruption of SOX10 function in myelinopathies Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2010 Published in: Annals of Neurology Lupski, James R New mutations and intellectual function Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2010 Published in: Nature Genetics Lupski, James R. A Rare Novel Tyrosine Hydroxylase Gene Deletion in Parkinson Disease Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hindawi Limited, 2010 Published in: Human Mutation Lupski, James R. Retrotransposition and Structural Variation in the Human Genome Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2010 Published in: Cell
Lupski, James R. [Editor]; Stankiewicz, Paweł [Other] Genomic disorders : the genomic basis of disease Books Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Totowa, N.J.: Humana Press, 2006
DeBruijn, Frans J. [Other]; Lupski, James R. [Other]; Weinstock, George M. [Other]; Bruijn, Frans J. de [Other] Bacterial genomes : physical structure and analysis Books Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. New York, NY [u.a.]: Chapman & Hall [u.a.], 1998
Lupski, James R. [Other]; Stankiewicz, Pawel [Other] Genomic Disorders : The Genomic Basis of Disease Books View online Schließen > Access Full access (via DOI) Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Totowa, NJ: Humana Press Inc, 2006 Published in: SpringerLink ; Bücher
Lupski, James R. [Other]; Stankiewicz, Pawel [Other] Genomic Disorders : The Genomic Basis of Disease Books View online Schließen > Access Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Totowa, NJ: Humana Press Inc, 2006 Published in: SpringerLink ; Bücher
Yuan, Bo [Author]; Schulze, Katharina V. [Author]; Assia Batzir, Nurit [Author]; Sinson, Jefferson [Author]; Dai, Hongzheng [Author]; Zhu, Wenmiao [Author]; Bocanegra, Francia [Author]; Fong, Chin-To [Author]; Holder, Jimmy [Author]; Nguyen, Joanne [Author]; Schaaf, Christian P. [Author]; Yang, Yaping [Author]; Bi, Weimin [Author]; Eng, Christine [Author]; Shaw, Chad [Author]; Lupski, James R. [Author]; Liu, Pengfei [Author] Sequencing individual genomes with recurrent genomic disorder deletions : an approach to characterize genes for autosomal recessive rare disease traits Articles View online Schließen > Access Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. 30 September 2022 Published in: Genome medicine ; 14(2022), Artikel-ID 113, Seite 1-24
Martin, Paige B. [Author]; Kigoshi-Tansho, Yu [Author]; Sher, Roger B. [Author]; Ravenscroft, Gianina [Author]; Stauffer, Jennifer E. [Author]; Kumar, Rajesh [Author]; Yonashiro, Ryo [Author]; Müller, Tina [Author]; Griffith, Christopher [Author]; Allen, William [Author]; Pehlivan, Davut [Author]; Haral, Tamar [Author]; Zenker, Martin [Author]; Howting, Denise [Author]; Schanze, Denny [Author]; Faqeih, Eissa A. [Author]; Almontashiri, Naif A. M. [Author]; Maroofian, Reza [Author]; Houlden, Henry [Author]; Mazaheri, Neda [Author]; Galehdari, Hamid [Author]; Douglas, Ganka [Author]; Posey, Jennifer E. [Author]; Ryan, Monique [Author]; [...] NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease Articles View online Schließen > Access Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. 15 September 2020 Published in: Nature Communications ; 11(2020) Artikel-Nummer 4625, 12 Seiten
Lupski, James R. Somatic cell structural variant mutagenesis and neurologic disease Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2023 Published in: Cell Genomics
Lupski, James R. Clan genomics: From OMIM phenotypic traits to genes and biology Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2021 Published in: American Journal of Medical Genetics Part A
Lupski, James R. 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2019 Published in: The American Journal of Human Genetics
Lupski, James R. A Human in Human Genetics Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2019 Published in: Cell
Lupski, James R. Clinical genomics: from a truly personal genome viewpoint Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2016 Published in: Human Genetics
Lupski, James R. Cognitive Phenotypes and Genomic Copy Number Variations Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Medical Association (AMA), 2015 Published in: JAMA
Lupski, James R. Structural variation mutagenesis of the human genome: Impact on disease and evolution Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2015 Published in: Environmental and Molecular Mutagenesis
Lupski, James R. Genome Mosaicism—One Human, Multiple Genomes Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Association for the Advancement of Science, 2013 Published in: Science
Lupski, James R. Brain Copy Number Variants and Neuropsychiatric Traits Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2012 Published in: Biological Psychiatry
Lupski, James R Digenic inheritance and Mendelian disease Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2012 Published in: Nature Genetics
Lupski, James R. Interruption of SOX10 function in myelinopathies Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2010 Published in: Annals of Neurology
Lupski, James R New mutations and intellectual function Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2010 Published in: Nature Genetics
Lupski, James R. A Rare Novel Tyrosine Hydroxylase Gene Deletion in Parkinson Disease Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hindawi Limited, 2010 Published in: Human Mutation
Lupski, James R. Retrotransposition and Structural Variation in the Human Genome Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2010 Published in: Cell
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