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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Published in:
Genome Medicine, 2017, v. 9, p. 14, doi. 10.1186/s13073-017-0482-5
By:
- Li, Alexander H.;
- Boerwinkle, Eric;
- Hanchard, Neil A.;
- Fernbach, Susan;
- Azamian, Mahshid;
- Nicosia, Annarita;
- Rosenfeld, Jill;
- Eng, Christine;
- Gibbs, Richard A.;
- Lupski, James R.;
- Belmont, John W.;
- Furthner, Dieter;
- Muzny, Donna;
- Jhangiani, Shalini;
- D'Alessandro, Lisa C. A.;
- Morris, Shaine;
- Parekh, Dhaval R.;
- Franklin, Wayne J.;
- Penny, Daniel J.;
- Lewin, Mark
Publication type:
Article
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 6, p. 811, doi. 10.1038/ejhg.2008.255
By:
- McBride, Kim L.;
- Zender, Gloria A.;
- Fitzgerald-Butt, Sara M.;
- Koehler, Daniel;
- Menesses-Diaz, Andres;
- Fernbach, Susan;
- Kwanghyuk Lee;
- Towbin, Jeffrey A.;
- Leal, Suzanne;
- Belmont, John W.
Publication type:
Article
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00396-x
By:
- Wigby, Kristen M.;
- Brockman, Deanna;
- Costain, Gregory;
- Hale, Caitlin;
- Taylor, Stacie L.;
- Belmont, John;
- Bick, David;
- Dimmock, David;
- Fernbach, Susan;
- Greally, John;
- Jobanputra, Vaidehi;
- Kulkarni, Shashikant;
- Spiteri, Elizabeth;
- Taft, Ryan J.
Publication type:
Article
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 11, p. 2331, doi. 10.1093/hmg/ddw071
By:
- Hanchard, Neil A.;
- Swaminathan, Shanker;
- Bucasas, Kristine;
- Furthner, Dieter;
- Fernbach, Susan;
- Azamian, Mahshid S.;
- Xueqing Wang;
- Lewin, Mark;
- Towbin, Jeffrey A.;
- D'Alessandro, Lisa C. A.;
- Morris, Shaine A.;
- Dreyer, William;
- Denfield, Susan;
- Ayres, Nancy A.;
- Franklin, Wayne J.;
- Justino, Henri;
- Lantin-Hermoso, M. Regina;
- Ocampo, Elena C.;
- Santos, Alexia B.;
- Parekh, Dhaval
Publication type:
Article
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 5, p. 861, doi. 10.1093/hmg/ddn411
By:
- Mohapatra, Bhagyalaxmi;
- Casey, Brett;
- Li, Hua;
- Ho-Dawson, Trang;
- Smith, Liana;
- Fernbach, Susan D.;
- Molinari, Laura;
- Niesh, Stephen R.;
- Jefferies, John Lynn;
- Craigen, William J.;
- Towbin, Jeffrey A.;
- Belmont, John W.;
- Ware, Stephanie M.
Publication type:
Article
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2176, doi. 10.1002/ajmg.a.38309
By:
- Hanchard, Neil A.;
- Umana, Luis A.;
- D'Alessandro, Lisa;
- Azamian, Mahshid;
- Poopola, Mojisola;
- Morris, Shaine A.;
- Fernbach, Susan;
- Lalani, Seema R.;
- Towbin, Jeffrey A.;
- Zender, Gloria A.;
- Fitzgerald‐Butt, Sara;
- Garg, Vidu;
- Bowman, Jessica;
- Zapata, Gladys;
- Hernandez, Patricia;
- Arrington, Cammon B.;
- Furthner, Dieter;
- Prakash, Siddharth K.;
- Bowles, Neil E.;
- McBride, Kim L.
Publication type:
Article
Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3021, doi. 10.1002/ajmg.a.36776
By:
- Murali, Chaya;
- Fernbach, Susan D.;
- Potocki, Lorraine
Publication type:
Article
SNP genotyping to screen for a common deletion in CHARGE Syndrome.
Published in:
BMC Medical Genetics, 2005, v. 6, p. 8, doi. 10.1186/1471-2350-6-8
By:
- Lalani, Seema R.;
- Safiullah, Arsalan M.;
- Fernbach, Susan D.;
- Phillips, Michael;
- Bacino, Carlos A.;
- Molinari, Laura M.;
- Glass, Nancy L.;
- Towbin, Jeffrey A.;
- Craigen, William J.;
- Belmont, John W.
Publication type:
Article

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