Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes
Russell, Meaghan K, Longoni, Mauro, Wells, Julie, Maalouf, Faouzi I, Tracy, Adam A, Loscertales, Maria, Ackerman, Kate G, Pober, Barbara R, Lage, Kasper, Bult, Carol J, Donahoe, Patricia K
Published in Proceedings of the National Academy of Sciences - PNAS (21.02.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (21.02.2012)
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Journal Article
Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Noonan, Kristin M, MacLaughlin, David T, Loscertales, Maria, Robson, Caroline, Walsh, Christopher A, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Russell, Meaghan K, Bieth, Eric, Devriendt, Koen, Liu, Tianming, Chassaing, Nicolas, Teebi, Ahmad, Pober, Barbara R, Black, Graeme C M, Lacombe, Didier, Donahoe, Patricia K, Kantarci, Sibel
Published in Nature genetics (01.08.2007)
Published in Nature genetics (01.08.2007)
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Journal Article
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics
Longoni, Mauro, High, Frances A., Russell, Meaghan K., Kashani, Alireza, Tracy, Adam A., Coletti, Caroline M., Hila, Regis, Shamia, Ahmed, Wells, Julie, Ackerman, Kate G., Wilson, Jay M., Bult, Carol J., Lee, Charles, Lage, Kasper, Pober, Barbara R., Donahoe, Patricia K.
Published in Proceedings of the National Academy of Sciences - PNAS (26.08.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (26.08.2014)
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Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Longoni, Mauro, Lage, Kasper, Russell, Meaghan K., Loscertales, Maria, Abdul-Rahman, Omar A., Baynam, Gareth, Bleyl, Steven B., Brady, Paul D., Breckpot, Jeroen, Chen, Chih P., Devriendt, Koenraad, Gillessen-Kaesbach, Gabriele, Grix, Arthur W., Rope, Alan F., Shimokawa, Osamu, Strauss, Bernarda, Wieczorek, Dagmar, Zackai, Elaine H., Coletti, Caroline M., Maalouf, Faouzi I., Noonan, Kristin M., Park, Ji H., Tracy, Adam A., Lee, Charles, Donahoe, Patricia K., Pober, Barbara R.
Published in American journal of medical genetics. Part A (01.12.2012)
Published in American journal of medical genetics. Part A (01.12.2012)
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Journal Article
Systematic analysis of copy number variation associated with congenital diaphragmatic hernia
Zhu, Qihui, High, Frances A., Zhang, Chengsheng, Cerveira, Eliza, Russell, Meaghan K., Longoni, Mauro, Joy, Maliackal P., Ryan, Mallory, Mil-homens, Adam, Bellfy, Lauren, Coletti, Caroline M., Bhayani, Pooja, Hila, Regis, Wilson, Jay M., Donahoe, Patricia K., Lee, Charles
Published in Proceedings of the National Academy of Sciences - PNAS (15.05.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (15.05.2018)
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Journal Article
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH
Kantarci, Sibel, Ackerman, Kate G., Russell, Meaghan K., Longoni, Mauro, Sougnez, Carrie, Noonan, Kristin M., Hatchwell, Eli, Zhang, Xiaoyun, Vanmarcke, Rafael Pieretti, Anyane-Yeboa, Kwame, Dickman, Paul, Wilson, Jay, Donahoe, Patricia K., Pober, Barbara R.
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
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Journal Article
Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
Kantarci, Sibel, Ragge, Nicola K., Thomas, N. Simon, Robinson, David O., Noonan, Kristin M., Russell, Meaghan K., Donnai, Dian, Raymond, F. Lucy, Walsh, Christopher A., Donahoe, Patricia K., Pober, Barbara R.
Published in American journal of medical genetics. Part A (15.07.2008)
Published in American journal of medical genetics. Part A (15.07.2008)
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Journal Article
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
Kantarci, Sibel, Ragge, Nicola K., Thomas, N. Simon, Robinson, David O., Noonan, Kristin M., Russell, Meaghan K., Donnai, Dian, Raymond, F. Lucy, Walsh, Christopher A., Donahoe, Patricia K., Pober, Barbara R.
Published in American Journal of Medical Genetics Part A (15.07.2008)
Published in American Journal of Medical Genetics Part A (15.07.2008)
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