C. Vlangos

发表

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Peter Nürnberg, Dominik Seelow, Shazia Ashraf, 2009, PLoS genetics.

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

W. Chung, K. Ormond, T. Klein, 2016, Genetics in Medicine.

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

P. Patel, P. Das, C. Vlangos, 2001, European Journal of Human Genetics.

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

Bethan E. Hoskins, C. Antignac, F. Hildebrandt, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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)

W. Chung, T. Klein, David T. Miller, 2021, Genetics in Medicine.

CORRIGENDUM: 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

W. Chung, K. Ormond, T. Klein, 2017, Genetics in Medicine.

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene

Meredith Wilson, C. Vlangos, Ann C M Smith, 2005, American journal of medical genetics. Part A.

A Novel TRPC6 Mutation That Causes Childhood FSGS

F. Hildebrandt, S. Heeringa, G. Chernin, 2009, PloS one.

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

F. Hildebrandt, S. Heeringa, G. Chernin, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

F. Hildebrandt, S. Heeringa, G. Chernin, 2008, Pediatric Nephrology.

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

F. Hildebrandt, C. Vlangos, B. Hinkes, 2007, Pediatrics.

Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome

F. Hildebrandt, C. Vlangos, B. Hinkes, 2007, Pediatric Nephrology.

Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)

E. Hatchwell, S. Girirajan, N. Nowak, 2007, American journal of medical genetics. Part A.

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

F. Hildebrandt, S. Heeringa, G. Chernin, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

F. Hildebrandt, S. Heeringa, C. Vlangos, 2008, Journal of the American Society of Nephrology : JASN.

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)

W. Chung, T. Klein, David T. Miller, 2021, Genetics in Medicine.

Refinement of the Smith–Magenis syndrome critical region to ∼950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

C. Vlangos, S. Elsea, Dwight K. C. Yim, 2003 .

Mutations in RAI1 associated with Smith–Magenis syndrome

C. Vlangos, B. Finucane, R. Slager, 2003, Nature Genetics.

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

C. Vlangos, S. Elsea, Dwight K. C. Yim, 2003, Molecular genetics and metabolism.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

V. Pertegato, Y. Raphael, H. Prokisch, 2011, The Journal of clinical investigation.