Alan Fryer

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

Kang Zhang, David A Mackey, Carmel Toomes, 2004, Investigative ophthalmology & visual science.

Autism, language and communication in children with sex chromosome trisomies

Dorothy V M Bishop, Angela Barnicoat, Kate Nation, 2010, Archives of Disease in Childhood.

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

London Dysmorphology Database

A. Fryer, Alan Fryer, 1991 .

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Steven J. M. Jones, Shing Hei Zhan, Clara DM van Karnebeek, 2014, Orphanet Journal of Rare Diseases.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.