Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Johnston, Jennifer J.; Olivos-Glander, Isabelle; Killoran, Christina; Elson, Emma; Turner, Joyce T.; Peters, Kathryn F.; Abbott, Margaret H.; Aughton, David J.; Aylsworth, Arthur S.; Bamshad, Michael J.; Booth, Carol; Curry, Cynthia J.; David, Albert; Dinulos, Mary Beth; Flannery, David B.; Fox, Michelle A.; Graham, John M.; Grange, Dorothy K.; Guttmacher, Alan E.; Hannibal, Mark C.; Henn, Wolfram; Hennekam, RaoulC.M.; Holmes, Lewis B.; Hoyme, H. Eugene; Leppig, Kathleen A.; Lin, Angela E.; MacLeod, Patrick; Manchester, David K.; Marcelis, Carlo; Mazzanti, Laura; McCann, Emma; McDonald, Marie T.; Mendelsohn, Nancy J.; Moeschler, John B.; Moghaddam, Billur; Neri, Giovanni; Newbury-Ecob, Ruth; Pagon, Roberta A.; Phillips III, John A.; Sadler, Laurie S.; Stoler, Joan M.; Tilstra, David; Walsh Vockley, Catherine M.; Zackai, Elaine H.; Zadeh, Touran M.; Brueton, Louise; Black, Graeme Charles M.; Biesecker, Leslie G.

doi:10.1086/429346

Cited by 280

The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

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Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, RaoulC.M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips III, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.·2005·The American Journal of Human Genetics

DOI 10.1086/429346

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Authors: Johnston, J. J., Olivos-Glander, I., Killoran, C., Elson, E., Turner, J. T., Peters, K. F., Abbott, M. H., Aughton, D. J., Aylsworth, A. S., Bamshad, M. J., Booth, C., Curry, C. J., David, A., Dinulos, M. B., Flannery, D. B., Fox, M. A., Graham, J. M., Grange, D. K., Guttmacher, A. E., Hannibal, M. C., Henn, W., Hennekam, R. M., Holmes, L. B., Hoyme, H. E., Leppig, K. A., Lin, A. E., MacLeod, P., Manchester, D. K., Marcelis, C., Mazzanti, L., McCann, E., McDonald, M. T., Mendelsohn, N. J., Moeschler, J. B., Moghaddam, B., Neri, G., Newbury-Ecob, R., Pagon, R. A., Phillips III, J. A., Sadler, L. S., Stoler, J. M., Tilstra, D., Walsh Vockley, C. M., Zackai, E. H., Zadeh, T. M., Brueton, L., Black, G. C. M., & Biesecker, L. G.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2005-04
Volume: 76
Issue: 4
Pages: 609-622
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1086/429346
OpenAlex: W1977288855
Cited by: 280
References: 29
FWCI: 11.95
Type: journal article
Language: en
Open access: bronze

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This page: CoChat. (2026). Citation check: Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations. https://app.cochat.ai/papers/10.1086/429346
The paper: Johnston, J. J., Olivos-Glander, I., Killoran, C., Elson, E., Turner, J. T., Peters, K. F., Abbott, M. H., Aughton, D. J., Aylsworth, A. S., Bamshad, M. J., Booth, C., Curry, C. J., David, A., Dinulos, M. B., Flannery, D. B., Fox, M. A., Graham, J. M., Grange, D. K., Guttmacher, A. E., . . . Biesecker, L. G. (2005). Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations. The American Journal of Human Genetics. https://doi.org/10.1086/429346

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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

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