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Vlangos, Christopher N
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: TRA-WID, 2022, p.11840-11840
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Vlangos, Christopher N
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: TRO-WIK, 2021, p.11810-11810
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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Miller, David T. ; Lee, Kristy ; Chung, Wendy K. ; Gordon, Adam S. ; Herman, Gail E. ; Klein, Teri E. ; Stewart, Douglas R. ; Amendola, Laura M. ; Adelman, Kathy ; Bale, Sherri J. ; Gollob, Michael H. ; Harrison, Steven M. ; Hershberger, Ray E. ; McKelvey, Kent ; Richards, C. Sue ; Vlangos, Christopher N. ; Watson, Michael S. ; Martin, Christa Lese
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1381-1390
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Author / Creator:Kalia, Sarah S. ; Adelman, Kathy ; Bale, Sherri J. ; Chung, Wendy K. ; Eng, Christine ; Evans, James P. ; Herman, Gail E. ; Hufnagel, Sophia B. ; Klein, Teri E. ; Korf, Bruce R. ; McKelvey, Kent D. ; Ormond, Kelly E. ; Richards, C. Sue ; Vlangos, Christopher N. ; Watson, Michael ; Martin, Christa L. ; Miller, David T.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2017-02, Vol.19 (2), p.249-255
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Miller, David T. ; Lee, Kristy ; Gordon, Adam S. ; Amendola, Laura M. ; Adelman, Kathy ; Bale, Sherri J. ; Chung, Wendy K. ; Gollob, Michael H. ; Harrison, Steven M. ; Herman, Gail E. ; Hershberger, Ray E. ; Klein, Teri E. ; McKelvey, Kent ; Richards, C. Sue ; Vlangos, Christopher N. ; Stewart, Douglas R. ; Watson, Michael S. ; Martin, Christa Lese
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1391-1398
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Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)
Author / Creator:Hinkes, Bernward G ; Mucha, Bettina ; Vlangos, Christopher N ; Gbadegesin, Rasheed ; Liu, Jinhong ; Hasselbacher, Katrin ; Hangan, Daniela ; Ozaltin, Fatih ; Zenker, Martin ; Hildebrandt, Friedhelm ; members of Arbeitsgemeinschaft fur Paediatrische Nephrologie Study Group
Publisher:United States: Am Acad Pediatrics
Journal title:Pediatrics (Evanston), 2007-04, Vol.119 (4), p.e907-e919
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A novel TRPC6 mutation that causes childhood FSGS
Author / Creator:Heeringa, Saskia F ; Möller, Clemens C ; Du, Jianyang ; Yue, Lixia ; Hinkes, Bernward ; Chernin, Gil ; Vlangos, Christopher N ; Hoyer, Peter F ; Reiser, Jochen ; Hildebrandt, Friedhelm
Publisher:United States: Public Library of Science
Journal title:PloS one, 2009-11, Vol.4 (11), p.e7771-e7771
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Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Miller, David T. ; Lee, Kristy ; Chung, Wendy K. ; Gordon, Adam S. ; Herman, Gail E. ; Klein, Teri E. ; Stewart, Douglas R. ; Amendola, Laura M. ; Adelman, Kathy ; Bale, Sherri J. ; Gollob, Michael H. ; Harrison, Steven M. ; Hershberger, Ray E. ; McKelvey, Kent ; Richards, C. Sue ; Vlangos, Christopher N. ; Watson, Michael S. ; Martin, Christa Lese
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1582-1584
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Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression
Author / Creator:Vlangos, Christopher N ; Siuniak, Amanda N ; Robinson, Dan ; Chinnaiyan, Arul M ; Lyons, Jr, Robert H ; Cavalcoli, James D ; Keegan, Catherine E
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013-02, Vol.9 (2), p.e1003205
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Mutations in RAI1 associated with Smith–Magenis syndrome
Author / Creator:Slager, Rebecca E. ; Newton, Tiffany Lynn ; Vlangos, Christopher N. ; Finucane, Brenda ; Elsea, Sarah H.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2003-04, Vol.33 (4), p.466-468
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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
Author / Creator:Girirajan, Santhosh ; Vlangos, Christopher N ; Szomju, Barbara B ; Edelman, Emily ; Trevors, Christopher D ; Dupuis, Lucie ; Nezarati, Marjan ; Bunyan, David J ; Elsea, Sarah H
Publisher:United States
Journal title:Genetics in medicine, 2006-07, Vol.8 (7), p.417-427
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ArticlesPeer ReviewedFull Text
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome
Author / Creator:Chernin, Gil ; Heeringa, Saskia F. ; Gbadegesin, Rasheed ; Liu, Jinhong ; Hinkes, Bernward G. ; Vlangos, Christopher N. ; Vega-Warner, Virginia ; Hildebrandt, Friedhelm
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2008-09, Vol.23 (9), p.1455-1460
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The 24th International Mammalian Genome Conference meeting report
Author / Creator:Wallace, Marsha ; Vlangos, Christopher N. ; de la Casa-Esperon, Elena
Publisher:New York: Springer-Verlag
Journal title:Mammalian genome, 2011-04, Vol.22 (3-4), p.148-155
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Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response
Author / Creator:Girirajan, Santhosh ; Hauck, Paula M ; Williams, Stephen ; Vlangos, Christopher N ; Szomju, Barbara B ; Solaymani-Kohal, Sara ; Mosier, Philip D ; White, Kimber L. Jr ; McCoy, Kathleen ; Elsea, Sarah H
Publisher:New York: New York : Springer-Verlag
Journal title:Mammalian genome, 2008-04, Vol.19 (4), p.246-262
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Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR
Author / Creator:Truong, Hoa T ; Solaymani-Kohal, Sara ; Baker, Kevin R ; Girirajan, Santhosh ; Williams, Stephen R ; Vlangos, Christopher N ; Smith, Ann C M ; Bunyan, David J ; Roffey, Paul E ; Blanchard, Christopher L ; Elsea, Sarah H
Publisher:United States: Mary Ann Liebert, Inc
Journal title:Genetic testing, 2008-03, Vol.12 (1), p.67-73
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
Author / Creator:Heeringa, Saskia F ; Chernin, Gil ; Chaki, Moumita ; Zhou, Weibin ; Sloan, Alexis J ; Ji, Ziming ; Xie, Letian X ; Salviati, Leonardo ; Hurd, Toby W ; Vega-Warner, Virginia ; Killen, Paul D ; Raphael, Yehoash ; Ashraf, Shazia ; Ovunc, Bugsu ; Schoeb, Dominik S ; McLaughlin, Heather M ; Airik, Rannar ; Vlangos, Christopher N ; Gbadegesin, Rasheed ; Hinkes, Bernward ; Saisawat, Pawaree ; Trevisson, Eva ; Doimo, Mara ; Casarin, Alberto ; Pertegato, Vanessa ; Giorgi, Gianpietro ; Prokisch, Holger ; Rötig, Agnès ; Nürnberg, Gudrun ; Becker, Christian ; Wang, Su ; Ozaltin, Fatih ; Topaloglu, Rezan ; Bakkaloglu, Aysin ; Bakkaloglu, Sevcan A ; Müller, Dominik ; Beissert, Antje ; Mir, Sevgi ; Berdeli, Afig ; Varpizen, Seza ; Zenker, Martin ; Matejas, Verena ; Santos-Ocaña, Carlos ; Navas, Placido ; Kusakabe, Takehiro ; Kispert, Andreas ; Akman, Sema ; Soliman, Neveen A ; Krick, Stefanie ; Mundel, Peter ; Reiser, Jochen ; Nürnberg, Peter ; Clarke, Catherine F ; Wiggins, Roger C ; Faul, Christian ; Hildebrandt, Friedhelm
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2011-05, Vol.121 (5), p.2013-2024
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
Author / Creator:Hinkes, Bernward ; Wiggins, Roger C ; Gbadegesin, Rasheed ; Vlangos, Christopher N ; Seelow, Dominik ; Nürnberg, Gudrun ; Garg, Puneet ; Verma, Rakesh ; Chaib, Hassan ; Hoskins, Bethan E ; Ashraf, Shazia ; Becker, Christian ; Hennies, Hans Christian ; Goyal, Meera ; Wharram, Bryan L ; Schachter, Asher D ; Mudumana, Sudha ; Drummond, Iain ; Kerjaschki, Dontscho ; Waldherr, Rüdiger ; Dietrich, Alexander ; Ozaltin, Fatih ; Bakkaloglu, Aysin ; Cleper, Roxana ; Basel-Vanagaite, Lina ; Pohl, Martin ; Griebel, Martin ; Tsygin, Alexey N ; Soylu, Alper ; Müller, Dominik ; Sorli, Caroline S ; Bunney, Tom D ; Katan, Matilda ; Liu, Jinhong ; Attanasio, Massimo ; O'Toole, John F ; Hasselbacher, Katrin ; Mucha, Bettina ; Otto, Edgar A ; Airik, Rannar ; Kispert, Andreas ; Kelley, Grant G ; Smrcka, Alan V ; Gudermann, Thomas ; Holzman, Lawrence B ; Nürnberg, Peter ; Hildebrandt, Friedhelm
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2006-12, Vol.38 (12), p.1397-1405
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A systematic approach to mapping recessive disease genes in individuals from outbred populations
Author / Creator:Hildebrandt, Friedhelm ; Heeringa, Saskia F ; Rüschendorf, Franz ; Attanasio, Massimo ; Nürnberg, Gudrun ; Becker, Christian ; Seelow, Dominik ; Huebner, Norbert ; Chernin, Gil ; Vlangos, Christopher N ; Zhou, Weibin ; O'Toole, John F ; Hoskins, Bethan E ; Wolf, Matthias T F ; Hinkes, Bernward G ; Chaib, Hassan ; Ashraf, Shazia ; Schoeb, Dominik S ; Ovunc, Bugsu ; Allen, Susan J ; Vega-Warner, Virginia ; Wise, Eric ; Harville, Heather M ; Lyons, Robert H ; Washburn, Joseph ; Macdonald, James ; Nürnberg, Peter ; Otto, Edgar A
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2009-01, Vol.5 (1), p.e1000353-e1000353
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Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysis
Author / Creator:Lucas, Rebecca E ; Vlangos, Christopher N ; Das, Parimal ; Patel, Pragna I ; Elsea, Sarah H
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2002-02, Vol.9 (12), p.892-902
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Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes
Author / Creator:Hinkes, Bernward G ; Mucha, Bettina ; Vlangos, Christopher N ; Gbadegesin, Rasheed ; Liu, Jinhong ; Hasselbacher, Katrin ; Hangan, Daniela ; Ozaltin, Fatih ; Zenker, Martin ; Hildebrandt, Friedhelm
Publisher:American Academy of Pediatrics
Journal title:Pediatrics (Evanston), 2007-04, Vol.119 (4), p.811
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Vlangos, Christopher N

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Vlangos, Christopher N

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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

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Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)

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A novel TRPC6 mutation that causes childhood FSGS

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Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

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Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression

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Mutations in RAI1 associated with Smith–Magenis syndrome

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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

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Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome

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The 24th International Mammalian Genome Conference meeting report

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Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response

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Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR

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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

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A systematic approach to mapping recessive disease genes in individuals from outbred populations

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Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysis

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Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes

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