Carla Rosenberg

发表

Germline copy number variations and cancer predisposition.

P. Pearson, C. Rosenberg, Ana Cristina Victorino Krepischi, 2012, Future oncology.

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis

Charles Lee, M. Milá, L. Rodriguez-Revenga, 2007, Genetics in Medicine.

Role of rare germline copy number variation in melanoma-prone patients.

Felipe Fidalgo, Dirce Maria Carraro, Maria Isabel Achatz, 2016, Future oncology.

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH

Hans Tanke, Anton K. Raap, Martijn H. Breuning, 2000, Human Genetics.

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Fikret Erdogan, Reinhard Ullmann, Wei Chen, 2007, Human mutation.

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Andrew J Lees, Susan Gribble, Rohan de Silva, 2006, Nature Genetics.

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Bruna L. Freire, Rosimeire A. Roela, C. Kim, 2017, Hormone Research in Paediatrics.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Leslie G Biesecker, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

Renan Valieris, A. Vianna-Morgante, S. Ezquina, 2018, The application of clinical genetics.

Genomic profiling by DNA amplification of laser capture microdissected tissues and array CGH.

Renée X de Menezes, Riccardo Fodde, Hans Morreau, 2004, Nucleic acids research.