Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes

af 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.
Udgivet 2012

Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy

af 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.
Udgivet 2008

Systematic analysis of copy number variation associated with congenital diaphragmatic hernia

af 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
Udgivet i Proc Natl Acad Sci U S A (2018)

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics

af 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.
Udgivet 2014

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

af Kantarci, Sibel, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Black, Graeme C M, Bieth, Eric, Chassaing, Nicolas, Lacombe, Didier, Devriendt, Koen, Teebi, Ahmad, Loscertales, Maria, Robson, Caroline, Liu, Tianming, MacLaughlin, David T, Noonan, Kristin M, Russell, Meaghan K, Walsh, Christopher A, Donahoe, Patricia K, Pober, Barbara R
Udgivet 2007

Congenital Diaphragmatic Hernia Interval on Chromosome 8p23.1 Characterized by Genetics and Protein Interaction Networks

af 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.
Udgivet 2012