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1. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study

Griffin, Emily Leann; Nees, Shannon N.; Morton, Sarah U.; Wynn, Julia; Patel, Nihir; Jobanputra, Vaidehi; Robinson, Scott; Kochav, Stephanie M.; Tao, Alice May; Andrews, Carli; Cross, Nancy; Geva, Judith; Lanzilotta, Kristen; Ritter, Alyssa; Taillie, Eileen; Thompson, Alexandra; Meyer, Chris; Akers, Rachel; King, Eileen C.; Cnota, James F.; Kim, Richard W.; Porter, Jr., George A.; Brueckner, Martina; Seidman, Christine E.; Shen, Yufeng; Gelb, Bruce D.; Goldmuntz, Elizabeth; Newburger, Jane W.; Roberts, Amy E.; Chung, Wendy K.
2023
Articles
Congenital heart diseaseGeneticsGenetic screeningMedicine

5. Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality

Machado, Rajiv D.; Welch, Carrie L.; Haimel, Matthias; Bleda, Marta; Colglazier, Elizabeth; Coulson, John D.; Debeljak, Marusa; Ekstein, Josef; Fineman, Jeffrey R.; Golden, William Christopher; Griffin, Emily Leann; Hadinnapola, Charaka; Harris, Michael A.; Hirsch, Yoel; Hoover-Fong, Julie Elizabeth; Nogee, Lawrence; Romer, Lewis H.; Vesel, Samo; Gräf, Stefan; Morrell, Nicholas W.; Southgate, Laura; Chung, Wendy K.; NIHR Bioresource – Rare Diseases
2021
Articles
GeneticsPediatricsCor pulmonale

6. Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Zhu, Na; Swietlik, Emilia M.; Welch, Carrie L.; Pauciulo, Michael W.; Hagen, Jacob J.; Zhou, Xueya; Guo, Yicheng; Karten, Johannes; Pandya, Divya; Tilly, Tobias; Lutz, Katie A.; Martin, Jennifer M.; Treacy, Carmen M.; Rosenzweig, Erika B.; Krishnan, Usha; Coleman, Anna W.; Gonzaga-Jauregui, Claudia; Lawrie, Allan; Trembath, Richard C.; Wilkins, Martin R.; Morrell, Nicholas W.; Shen, Yufeng; Gräf, Stefan; Nichols, William C.; Chung, Wendy K.
2021
Articles
Lungs--DiseasesHypertensionLungs--Diseases--Research

8. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Zhu, Na; Swietlik, Emilia M.; Welch, Carrie L.; Pauciulo, Michael W.; Hagen, Jacob J.; Zhou, Xueya; Guo, Yicheng; Karten, Johannes; Pandya, Divya; Tilly, Tobias; Lutz, Katie A.; Martin, Jennifer M.; Treacy, Carmen M.; Rosenzweig, Erika B.; Krishnan, Usha; Coleman, Anna W.; Gonzaga-Juaregui, Claudia; Lawrie, Allan; Trembath, Richard C.; Wilkins, Martin R.; Morrell, Nicholas W.; Shen, Yufeng; Gräf, Stefan; Nichols, William C.; Chung, Wendy K.
2021
Articles
GeneticsLungs--DiseasesHypertensionClinical trials

10. Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

Mavaddat, Nasim; Antoniou, Antonis C.; Mooij, Thea M.; Hooning, Maartje J.; Heemskerk-Gerritsen, Bernadette A.; Noguès, Catherine; Gauthier-Villars, Marion; Caron, Olivier; Gesta, Paul; Pujol, Pascal; Lortholary, Alain; Barrowdale, Daniel; Frost, Debra; Evans, D. G.; Izatt, Louise; Adlard, Julian; Eeles, Ros; Brewer, Carole; Tischkowitz, Marc; Henderson, Alex; Cook, Jackie; Eccles, Diana; van Engelen, Klaartje; Mourits, Marian J. E.; Ausems, Margreet G. E. M.; Koppert, Linetta B.; Hopper, John L.; John, Esther M.; Chung, Wendy K.; Andrulis, Irene L.; Daly, Mary B.; Buys, Saundra S.; Benitez, Javier; Caldes, Trinidad; Jakubowska, Anna; Simard, Jacques; Singer, Christian F.; Tan, Yen; Olah, Edith; Navratilova, Marie; Foretova, Lenka; Gerdes, Anne-Marie; Roos-Blom, Marie-José; Van Leeuwen, Flora E.; Arver, Brita; Olsson, Håkan; Schmutzler, Rita K.; Engel, Christoph; Kast, Karin; Phillips, Kelly-Anne; Terry, Mary B.; Milne, Roger L.; Goldgar, David E.; Rookus, Matti A.; Andrieu, Nadine; Easton, Douglas F.
2020
Articles
Breast--Cancer--Risk factorsOvariectomyMutagenesis