Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
- DOI
- 10.1016/j.ajhg.2018.12.010
- Published
- 2019 Feb 7
- Container
- American journal of human genetics
- Publisher
- Not recorded
- Open access
- yes
Credibility signals
limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- supportingOpen access status: Normalized open-access status: open.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Cite this work
BibTeX
@article{allodium:10.1016/j.ajhg.2018.12.010,
title = {Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.},
author = {Karolak JA and Vincent M and Deutsch G and Gambin T and Cogné B and Pichon O and Vetrini F and Mefford HC and Dines JN and Golden-Grant K and Dipple K and Freed AS and Leppig KA and Dishop M and Mowat D and Bennetts B and Gifford AJ and Weber MA and Lee AF and Boerkoel CF and Bartell TM and Ward-Melver C and Besnard T and Petit F and Bache I and Tümer Z and Denis-Musquer M and Joubert M and Martinovic J and Bénéteau C and Molin A and Carles D and André G and Bieth E and Chassaing N and Devisme L and Chalabreysse L and Pasquier L and Secq V and Don M and Orsaria M and Missirian C and Mortreux J and Sanlaville D and Pons L and Küry S and Bézieau S and Liet JM and Joram N and Bihouée T and Scott DA and Brown CW and Scaglia F and Tsai AC and Grange DK and Phillips JA 3rd and Pfotenhauer JP and Jhangiani SN and Gonzaga-Jauregui CG and Chung WK and Schauer GM and Lipson MH and Mercer CL and van Haeringen A and Liu Q and Popek E and Coban Akdemir ZH and Lupski JR and Szafranski P and Isidor B and Le Caignec C and Stankiewicz P},
year = {2019},
journal = {American journal of human genetics},
doi = {10.1016/j.ajhg.2018.12.010},
url = {https://doi.org/10.1016/j.ajhg.2018.12.010}
}RIS
TY - JOUR TI - Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. AU - Karolak JA AU - Vincent M AU - Deutsch G AU - Gambin T AU - Cogné B AU - Pichon O AU - Vetrini F AU - Mefford HC AU - Dines JN AU - Golden-Grant K AU - Dipple K AU - Freed AS AU - Leppig KA AU - Dishop M AU - Mowat D AU - Bennetts B AU - Gifford AJ AU - Weber MA AU - Lee AF AU - Boerkoel CF AU - Bartell TM AU - Ward-Melver C AU - Besnard T AU - Petit F AU - Bache I AU - Tümer Z AU - Denis-Musquer M AU - Joubert M AU - Martinovic J AU - Bénéteau C AU - Molin A AU - Carles D AU - André G AU - Bieth E AU - Chassaing N AU - Devisme L AU - Chalabreysse L AU - Pasquier L AU - Secq V AU - Don M AU - Orsaria M AU - Missirian C AU - Mortreux J AU - Sanlaville D AU - Pons L AU - Küry S AU - Bézieau S AU - Liet JM AU - Joram N AU - Bihouée T AU - Scott DA AU - Brown CW AU - Scaglia F AU - Tsai AC AU - Grange DK AU - Phillips JA 3rd AU - Pfotenhauer JP AU - Jhangiani SN AU - Gonzaga-Jauregui CG AU - Chung WK AU - Schauer GM AU - Lipson MH AU - Mercer CL AU - van Haeringen A AU - Liu Q AU - Popek E AU - Coban Akdemir ZH AU - Lupski JR AU - Szafranski P AU - Isidor B AU - Le Caignec C AU - Stankiewicz P PY - 2019 JO - American journal of human genetics DO - 10.1016/j.ajhg.2018.12.010 UR - https://doi.org/10.1016/j.ajhg.2018.12.010 ER -
APA
JA, K., M, V., G, D., T, G., B, C., O, P., F, V., HC, M., JN, D., K, G., K, D., AS, F., KA, L., M, D., D, M., B, B., AJ, G., MA, W., AF, L., CF, B., TM, B., C, W., T, B., F, P., I, B., Z, T., M, D., M, J., J, M., C, B., A, M., D, C., G, A., E, B., N, C., L, D., L, C., L, P., V, S., M, D., M, O., C, M., J, M., D, S., L, P., S, K., S, B., JM, L., N, J., T, B., DA, S., CW, B., F, S., AC, T., DK, G., 3rd, P. J., JP, P., SN, J., CG, G., WK, C., GM, S., MH, L., CL, M., A, V. H., Q, L., E, P., ZH, C. A., JR, L., P, S., B, I., C, L. C., & P, S. (2019). Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2018.12.010
Source records
- pubmed · retrieved 2026-09-26T23:34:15.887Z