C. Scott

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome?

R. Redon, N. Carter, H. Fiegler, 2005, Journal of Medical Genetics.

Phenotypes Associated with SHOX Deficiency.

A. Zinn, P. Papenhausen, P. Marttila, 2001, The Journal of clinical endocrinology and metabolism.

A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father.

A. Zinn, J. Ross, C. Scott, 2001, American journal of medical genetics.

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

T. Maisonobe, P. Lebon, G. Rice, 2008, American journal of medical genetics. Part A.

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

A. Hanauer, K. Merienne, W. Kress, 1998, Journal of medical genetics.

syndromal form ofX linked mental retardation: Coffin-Lowry syndrome

A. Hanauer, K. Merienne, A. Rossi, 2022 .

Prenatal detection of unbalanced chromosomal rearrangements by array CGH

N. Carter, H. Fiegler, G. Voglino, 2005, Journal of Medical Genetics.