F. Goodman

发表

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

C. Cremers, W. Reardon, H. Brunner, 1999, Nature Genetics.

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

W. Reardon, H. Brunner, F. Luyten, 1997, Nature Genetics.

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

S. Scherer, P. Scambler, W. Reardon, 1998, Nature Genetics.

ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome

R. Winter, C. Bacchelli, F. Goodman, 2003, Clinical genetics.

Increased nuchal translucency and split‐hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus

E. Bijlsma, C. Bilardo, F. Goodman, 2005, Prenatal diagnosis.

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

P. Scambler, R. Hennekam, L. Holmes, 2000, American journal of human genetics.

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

P. Scambler, W. Reardon, R. Winter, 1998, American journal of human genetics.

Preaxial polydactyly in an infant with Down’s syndrome

S. Kempley, F. Goodman, A. Ramanan, 1999, Clinical genetics.

Mild case of Curry-Jones syndrome.

A. Brady, C. Hall, F. Goodman, 2006, Clinical dysmorphology.

Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families

J. Graham, D. Rimoin, M. Warman, 2002, American journal of medical genetics. Part A.

The mutational spectrum of brachydactyly type C.

L. Singh, J. Graham, W. Newman, 2002, American journal of medical genetics.

Cenani–Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN

P. Scambler, R. Winter, C. Bacchelli, 2001, Clinical genetics.

Erratum: An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function (Development (2003) vol. 130 (1701-1712))

P. Scambler, V. Zappavigna, F. Goodman, 2003 .

Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families

P. Scambler, W. Reardon, R. Winter, 1999, European Journal of Pediatrics.

UvA-DARE ( Digital Academic Repository ) Novel HOXA 13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

P. Scambler, R. Hennekam, L. Holmes, 2017 .

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome

A. Guttmacher, P. Scambler, T. M. Williams, 2002, Human mutation.

Autosomal dominant B‐cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) – report of a second family

M. Tischkowitz, F. Goodman, M. Koliou, 2004, Clinical genetics.

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.

R M Winter, C McKeown, S. Mundlos, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

Peter J. Scambler, Andrea Superti-Furga, P. Scambler, 1998, Nature Genetics.

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13

P. Scambler, R. Trembath, I. Casteels, 2003, Journal of medical genetics.

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13

P. Scambler, J. Fryns, C. Bacchelli, 2002, Journal of medical genetics.

Limb malformations and the human HOX genes.

F. Goodman, Frances R Goodman, 2002, American journal of medical genetics.

Human HOX gene mutations

F. Goodman, P. Scambler, 2001, Clinical genetics.

Congenital abnormalities of body patterning: embryology revisited

F. Goodman, 2003, The Lancet.

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

P. Scambler, R. Hennekam, J. Clayton-Smith, 2010, American journal of human genetics.

An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function

P. Scambler, V. Zappavigna, F. Goodman, 2003, Development.

Two cases with interstitial deletions of chromosome 2 and sex reversal in one.

A. Slavotinek, H. Kingston, F. Goodman, 1999, American journal of medical genetics.

Acromelic frontonasal dysostosis.

D. K. Williams, R. Winter, F. Goodman, 1999, American journal of medical genetics.

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

P. Scambler, A. Collins, F. Goodman, 2002, American journal of human genetics.

A novel acropectoral syndrome maps to chromosome 7q36

J. Tolmie, F. Goodman, Y. Ozkul, 2001, Journal of medical genetics.

Liposarcoma of the Spermatic Cord

F. Goodman, H. Rees, M. Staunton, 1991, Journal of the Royal Society of Medicine.

Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint

G. Fabry, F. Goodman, P. Debeer, 2000, European Journal of Human Genetics.