Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human DiseaseGORIELY, Anne; WILKIE, Andrew O. M.American journal of human genetics. 2012, Vol 90, Num 2, pp 175-200, issn 0002-9297, 26 p.Article

Nonsense-Mediated Decay and the Molecular Pathogenesis of Mutations in SALL1 and GLI3FURNISS, Dominic; CRITCHLEY, Paul; GIELE, Henk et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 24, pp 3150-3160, issn 1552-4825, 11 p.Article

Monozygotic twins discordant for frontonasal malformationMOHAMMED, Shehla N; SWAN, Marc C; WALL, Steven A et al.American journal of medical genetics. 2004, Vol 130A, Num 4, pp 384-388, issn 0148-7299, 5 p.Article

Selfish Spermatogonial Selection: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental DisordersGORIELY, Anne; MCGRATH, John J; HULTMAN, Christina M et al.The American journal of psychiatry. 2013, Vol 170, Num 6, pp 599-608, issn 0002-953X, 10 p.Article

Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal SynostosisSHARMA, Vikram P; WALL, Steven A; LORD, Helen et al.The Cleft palate-craniofacial journal. 2012, Vol 49, Num 3, pp 373-377, issn 1055-6656, 5 p.Article

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosisBOCHUKOVA, Elena G; SONEJI, Shamit; WALL, Steven A et al.Journal of medical genetics. 2010, Vol 47, Num 12, pp 803-808, issn 0022-2593, 6 p.Article

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ lineGORIELY, Anne; MCVEAN, Gilean A. T; RÖJMYR, Maria et al.Science (Washington, D.C.). 2003, Vol 301, Num 5633, pp 643-646, issn 0036-8075, 4 p.Article

An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformationsKAN, Shih-Hsin; JOHNSON, David; GIELE, Henk et al.American journal of medical genetics. 2003, Vol 121A, Num 1, pp 69-74, issn 0148-7299, 6 p.Article

Clinical and genetic analysis of patients with saethre-chotzen syndrome. DiscussionDE HEER, Inge Marieke; DE KLEIN, Annelies; VAN DEN OUWELAND, Ans M et al.Plastic and reconstructive surgery (1963). 2005, Vol 115, Num 7, pp 1894-1905, issn 0032-1052, 12 p.Article

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limbFURNISS, Dominic; LETTICE, Laura A; TAYLOR, Indira B et al.Human molecular genetics (Print). 2008, Vol 17, Num 16, pp 2417-2423, issn 0964-6906, 7 p.Article

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosisMERRILL, Amy E; BOCHUKOVA, Elena G; BRUGGER, Sean M et al.Human molecular genetics (Print). 2006, Vol 15, Num 8, pp 1319-1328, issn 0964-6906, 10 p.Article

Mutational analysis in X-linked spondyloepiphyseal dysplasia tardaCHRISTIE, Paul T; CURLEY, Alan; NESBIT, M. Andrew et al.The Journal of clinical endocrinology and metabolism. 2001, Vol 86, Num 7, pp 3233-3236, issn 0021-972XArticle

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective LateralizationTWIGG, Stephen R. F; LLOYD, Deborah; GOODSHIP, Judith A et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 897-905, issn 0002-9297, 9 p.Article

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox GeneTWIGG, Stephen R. F; VERSNEL, Sarah L; ROBINSON, Alexis A et al.American journal of human genetics. 2009, Vol 84, Num 5, pp 698-705, issn 0002-9297, 8 p.Article

Reoperation for Intracranial Hypertension in TWIST1-Confirmed Saethre-Chotzen Syndrome: A 15-Year Review. CommentaryWOODS, Roger H; UL-HAQ, Ehtesham; WILKIE, Andrew O. M et al.Plastic and reconstructive surgery (1963). 2009, Vol 123, Num 6, pp 1801-1812, issn 0032-1052, 12 p.Article

Clinical dividends from the molecular genetic diagnosis of craniosynostosisWILKIE, Andrew O. M; BOCHUKOVA, Elena G; O'ROURKE, Anthony W et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 16, pp 1941-1949, issn 1552-4825, 9 p.Article

The origin of EFNB1 mutations in craniofrontonasal syndrome : Frequent somatic mosaicism and explanation of the paucity of carrier malesTWIGG, Stephen R. F; MATSUMOTO, Kazuya; SWEENEY, Elizabeth et al.American journal of human genetics. 2006, Vol 78, Num 6, pp 999-1010, issn 0002-9297, 12 p.Article

Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis : investigating a potential linkHANSEN, Ruth M. S; GORIELY, Anne; WALL, Steven A et al.Journal of pathology. 2005, Vol 207, Num 1, pp 27-31, issn 0022-3417, 5 p.Article

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humansROBERTSON, Stephen P; TWIGG, Stephen R. F; ØRSTAVIK, Karen H et al.Nature genetics. 2003, Vol 33, Num 4, pp 487-491, issn 1061-4036, 5 p.Article

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defectsMAVROGIANNIS, Lampros A; ANTONOPOULOU, Ileana; BAXOVA, Alica et al.Nature genetics. 2001, Vol 27, Num 1, pp 17-18, issn 1061-4036Article

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9JUSTICE, Cristina M; YAGNIK, Garima; KIMONIS, Virginia et al.Nature genetics. 2012, Vol 44, Num 12, pp 1360-1364, issn 1061-4036, 5 p.Article

Germline and Somatic Mosaicism for FGFR2 Mutation in the Mother of a Child With Crouzon Syndrome: Implications for Genetic Testing in Paternal Age-Effect SyndromesGORIELY, Anne; LORD, Helen; LIM, Jasmine et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 8, pp 2067-2073, issn 1552-4825, 7 p.Article

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic herniaVASUDEVAN, Pradeep C; TWIGG, Stephen R. F; MULLIKEN, John B et al.European journal of human genetics. 2006, Vol 14, Num 7, pp 884-887, issn 1018-4813, 4 p.Article

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patientsSARQUIS JEHEE, Fernanda; ALONSO, Luis G; PASSOS-BUENO, Maria Rita et al.The Cleft palate-craniofacial journal. 2006, Vol 43, Num 2, pp 148-151, issn 1055-6656, 4 p.Article

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosisRANNAN-ELIYA, Sahan V; TAYLOR, Indira B; DE HEER, I. Marieke et al.Human genetics. 2004, Vol 115, Num 3, pp 200-207, issn 0340-6717, 8 p.Article