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Genetic architecture of laterality defects revealed by whole exome sequencing
Li, Alexander H., Hanchard, Neil A., Azamian, Mahshid, D’Alessandro, Lisa C. A., Coban-Akdemir, Zeynep, Lopez, Keila N., Hall, Nancy J., Dickerson, Heather, Nicosia, Annarita, Fernbach, Susan, Boone, Philip M., Gambin, Tomaz, Karaca, Ender, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Doddapaneni, HarshaVardhan, Hu, Jianhong, Dinh, Huyen, Jayaseelan, Joy, Muzny, Donna, Lalani, Seema, Towbin, Jeffrey, Penny, Daniel, Fraser, Charles, Martin, James, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Ware, Stephanie M., Belmont, John W.
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
Dardas, Zain, Fatih, Jawid M., Jolly, Angad, Dawood, Moez, Du, Haowei, Grochowski, Christopher M., Jones, Edward G., Jhangiani, Shalini N., Wehrens, Xander H. T., Liu, Pengfei, Bi, Weimin, Boerwinkle, Eric, Posey, Jennifer E., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Coban-Akdemir, Zeynep, Morris, Shaine A.
Published in Genome medicine (03.04.2024)
Published in Genome medicine (03.04.2024)
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Referral Rates and Diagnostic Evaluation for Primary Ciliary Dyskinesia in Patients With Laterality Defects Who Meet Primary Ciliary Dyskinesia Evaluation Criteria
Salinas, Alyssa K., Smits, Gerard, Spurgin, Stephen B., Martínez‐Fernandez, Tanya M., Rivera‐Sánchez, Yadira M.
Published in Pediatric pulmonology (01.06.2025)
Published in Pediatric pulmonology (01.06.2025)
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Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy
Olson, Andrew J., Krentz, Anthony D., Finta, Kathleen M., Okorie, Uzoma C., Haws, Robert M.
Published in The Journal of pediatrics (01.01.2019)
Published in The Journal of pediatrics (01.01.2019)
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NPHP4 Variants Are Associated With Pleiotropic Heart Malformations
French, Vanessa M., van de Laar, Ingrid M.B.H., Wessels, Marja W., Rohe, Christan, Roos-Hesselink, Jolien W., Wang, Guangliang, Frohn-Mulder, Ingrid M.E., Severijnen, Lies-Anne, de Graaf, Bianca M., Schot, Rachel, Breedveld, Guido, Mientjes, Edwin, van Tienhoven, Marianne, Jadot, Elodie, Jiang, Zhengxin, Verkerk, Annemieke, Swagemakers, Sigrid, Venselaar, Hanka, Rahimi, Zohreh, Najmabadi, Hossein, Meijers-Heijboer, Hanne, de Graaff, Esther, Helbing, Wim A., Willemsen, Rob, Devriendt, Koen, Belmont, John W., Oostra, Ben A., Amack, Jeffrey D., Bertoli-Avella, Aida M.
Published in Circulation research (08.06.2012)
Published in Circulation research (08.06.2012)
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Extrahepatic Anomalies in Infants With Biliary Atresia: Results of a Large Prospective North American Multicenter Study
Schwarz, Kathleen B., Haber, Barbara H., Rosenthal, Philip, Mack, Cara L., Moore, Jeffrey, Bove, Kevin, Bezerra, Jorge A., Karpen, Saul J., Kerkar, Nanda, Shneider, Benjamin L., Turmelle, Yumirle P., Whitington, Peter F., Molleston, Jean P., Murray, Karen F., Ng, Vicky L., Romero, René, Wang, Kasper S., Sokol, Ronald J., Magee, John C.
Published in Hepatology (Baltimore, Md.) (01.11.2013)
Published in Hepatology (Baltimore, Md.) (01.11.2013)
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Mutation spectrum of congenital heart disease in a consanguineous Turkish population
Dong, Weilai, Kaymakcalan, Hande, Jin, Sheng Chih, Diab, Nicholas S., Tanıdır, Cansaran, Yalcin, Ali Seyfi Yalim, Ercan‐Sencicek, A. Gulhan, Mane, Shrikant, Gunel, Murat, Lifton, Richard P., Bilguvar, Kaya, Brueckner, Martina
Published in Molecular genetics & genomic medicine (01.06.2022)
Published in Molecular genetics & genomic medicine (01.06.2022)
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Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome
Berauer, John‐Paul, Mezina, Anya I., Okou, David T., Sabo, Aniko, Muzny, Donna M., Gibbs, Richard A., Hegde, Madhuri R., Chopra, Pankaj, Cutler, David J., Perlmutter, David H., Bull, Laura N., Thompson, Richard J., Loomes, Kathleen M., Spinner, Nancy B., Rajagopalan, Ramakrishnan, Guthery, Stephen L., Moore, Barry, Yandell, Mark, Harpavat, Sanjiv, Magee, John C., Kamath, Binita M., Molleston, Jean P., Bezerra, Jorge A., Murray, Karen F., Alonso, Estella M., Rosenthal, Philip, Squires, Robert H., Wang, Kasper S., Finegold, Milton J., Russo, Pierre, Sherker, Averell H., Sokol, Ronald J., Karpen, Saul J.
Published in Hepatology (Baltimore, Md.) (01.09.2019)
Published in Hepatology (Baltimore, Md.) (01.09.2019)
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Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants
Granadillo, Jorge L., Chung, Wendy K., Hecht, Leah, Corsten‐Janssen, Nicole, Wegner, Daniel, Nij Bijvank, Sebastiaan W.A., Toler, Tomi L., Pineda‐Alvarez, Daniel E., Douglas, Ganka, Murphy, Joshua J., Shimony, Joshua, Shinawi, Marwan
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
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The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia
Smith, Amanda J., Bustamante-Marin, Ximena M., Yin, Weining, Sears, Patrick R., Herring, Laura E., Dicheva, Nedyalka N., López-Giráldez, Francesc, Mane, Shrikant, Tarran, Robert, Leigh, Margaret W., Knowles, Michael R., Zariwala, Maimoona A., Ostrowski, Lawrence E.
Published in Journal of cell science (15.03.2022)
Published in Journal of cell science (15.03.2022)
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Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay
Jenkins, Dagan, Baynam, Gareth, De Catte, Luc, Elcioglu, Nursel, Gabbett, Michael T., Hudgins, Louanne, Hurst, Jane A., Jehee, Fernanda Sarquis, Oley, Christine, Wilkie, Andrew O. M.
Published in Human mutation (01.04.2011)
Published in Human mutation (01.04.2011)
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CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle
Goldmuntz, Elizabeth, Bamford, Richard, Karkera, Jayaprakash D., dela Cruz, June, Roessler, Erich, Muenke, Maximilian
Published in American journal of human genetics (01.03.2002)
Published in American journal of human genetics (01.03.2002)
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LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects
Horani, Amjad, Ferkol, Thomas W., Shoseyov, David, Wasserman, Mollie G., Oren, Yifat S., Kerem, Batsheva, Amirav, Israel, Cohen-Cymberknoh, Malena, Dutcher, Susan K., Brody, Steven L., Elpeleg, Orly, Kerem, Eitan
Published in PloS one (19.03.2013)
Published in PloS one (19.03.2013)
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