Publications by authors named "Christopher Vlangos"

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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).
David T Miller, Kristy Lee, Wendy K Chung, Adam S Gordon, Gail E Herman, Christopher N Vlangos

Genet Med· August 2021

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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).
David T Miller, Kristy Lee, Adam S Gordon, Laura M Amendola, Kathy Adelman, Christopher N Vlangos

Genet Med· August 2021

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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).
David T Miller, Kristy Lee, Wendy K Chung, Adam S Gordon, Gail E Herman, Christopher N Vlangos

Genet Med· August 2021

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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.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, Christopher N Vlangos

Genet Med· February 2017

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Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.
Christopher N Vlangos, Amanda N Siuniak, Dan Robinson, Arul M Chinnaiyan, Robert H Lyons

PLoS Genet· June 2013

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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Saskia F Heeringa, Gil Chernin, Moumita Chaki, Weibin Zhou, Alexis J Sloan, Christopher N Vlangos

J Clin Invest· May 2011

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The 24th international Mammalian Genome Conference meeting report.
Marsha Wallace, Christopher N Vlangos, Elena de la Casa-Esperon

Mamm Genome· April 2011

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Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.
Christopher N Vlangos, Amanda Siuniak, Todd Ackley, Hans van Bokhoven, Joris Veltman

Am J Med Genet A· January 2011

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Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Dominik S Schoeb, Gil Chernin, Saskia F Heeringa, Verena Matejas, Susanne Held, Christopher N Vlangos

Nephrol Dial Transplant· September 2010

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A novel TRPC6 mutation that causes childhood FSGS.
Saskia F Heeringa, Clemens C Möller, Jianyang Du, Lixia Yue, Bernward Hinkes, Christopher N Vlangos

PLoS One· November 2009

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Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis.
Christopher N Vlangos, Bridget C O'Connor, Madeleine J Morley, Andrea S Krause, Gail A Osawa

Dev Biol· October 2009

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A systematic approach to mapping recessive disease genes in individuals from outbred populations.
Friedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, Massimo Attanasio, Gudrun Nürnberg, Christopher N Vlangos

PLoS Genet· January 2009

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Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
Saskia F Heeringa, Christopher N Vlangos, Gil Chernin, Bernward Hinkes, Rasheed Gbadegesin

Nephrol Dial Transplant· November 2008

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Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.
Gil Chernin, Saskia F Heeringa, Rasheed Gbadegesin, Jinhong Liu, Bernward G Hinkes, Christopher N Vlangos

Pediatr Nephrol· September 2008

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Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Rasheed Gbadegesin, Bernward G Hinkes, Bethan E Hoskins, Christopher N Vlangos, Saskia F Heeringa

Nephrol Dial Transplant· April 2008

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Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.
Santhosh Girirajan, Paula M Hauck, Stephen Williams, Christopher N Vlangos, Barbara B Szomju

Mamm Genome· April 2008

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Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
Hoa T Truong, Sara Solaymani-Kohal, Kevin R Baker, Santhosh Girirajan, Stephen R Williams, Christopher N Vlangos

Genet Test· March 2008

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A milder variant of Pierson syndrome.
Mikhail Kagan, Arthur H Cohen, Verena Matejas, Christopher Vlangos, Martin Zenker

Pediatr Nephrol· February 2008

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Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.
Bernward Hinkes, Christopher Vlangos, Saskia Heeringa, Bettina Mucha, Rasheed Gbadegesin

J Am Soc Nephrol· February 2008

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Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).
Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N Vlangos, Lucie Dupuis, Norma J Nowak

Am J Med Genet A· May 2007

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Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.
Rasheed Gbadegesin, Bernward Hinkes, Christopher Vlangos, Bettina Mucha, Jinhong Liu

Pediatr Nephrol· April 2007

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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).
Bernward G Hinkes, Bettina Mucha, Christopher N Vlangos, Rasheed Gbadegesin, Jinhong Liu

Pediatrics· April 2007

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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Bernward Hinkes, Roger C Wiggins, Rasheed Gbadegesin, Christopher N Vlangos, Dominik Seelow

Nat Genet· December 2006

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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Santhosh Girirajan, Christopher N Vlangos, Barbara B Szomju, Emily Edelman, Christopher D Trevors

Genet Med· July 2006

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