High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of theTYR, OCA2, andSLC45A2genes and a complex rearrangement of theOCA2gene

Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

(2013) Karen Grønskov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism

(2013) Ai-Hua Wei et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4

(2012) Judith M.A. Verhagen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

OCA5,a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24

(2012) T Kausar et al.   CLINICAL GENETICS

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

(2012) Nadége Bondurand et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Microduplications upstream ofMSX2are associated with a phenocopy of cleidocranial dysplasia

(2012) Claus Eric Ott et al.   JOURNAL OF MEDICAL GENETICS

UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome

(2011) Daren Low et al.   Pigment Cell & Melanoma Research

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

(2010) Caroline Rooryck et al.   HUMAN GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Velvet: Algorithms for de novo short read assembly using de Bruijn graphs

(2008) D. R. Zerbino et al.   GENOME RESEARCH

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

(2008) Caroline Rooryck et al.   Pigment Cell & Melanoma Research

Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?

(2008) Flavio Rizzolio et al.   PLoS One