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2. Pilot Study of Return of Genetic Results to Patients in Adult Nephrology

Nestor, Jordan Gabriela; Marasa, Maddalena; Milo-Rasouly, Hila; Groopman, Emily; Husain, Syed Ali; Mohan, Sumit; Fernandez, Hilda Elena; Aggarwal, Vimla S.; Ahram, Dina; Vena, Natalie; Bogyo, Kelsie; Bomback, Andrew S.; Radhakrishnan, Jai; Appel, Gerald B.; Ahn, Wooin; Cohen, David Jonathan; Canetta, Pietro A.; Dube, Geoffrey; Rao, Maya K.; Morris, Heather; Crew, Russell J.; Sanna-Cherchi, Simone; Kiryluk, Krzysztof; Gharavi, Ali G.
2020
Articles
GeneticsGenomicsHuman chromosome abnormalities--DiagnosisNephrologyKidneys--Diseases--Genetic aspectsKidneys--Diseases--Treatment

5. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

Heinzen, Erin L.; O’Neill, Adam C.; Zhu, Xiaolin; Allen, Andrew S.; Bahlo, Melanie; Chelly, Jamel; Chen, Ming Hui; Dobyns, William B.; Freytag, Saskia; Guerrini, Renzo; Leventer, Richard J.; Poduri, Annapurna; Robertson, Stephen P.; Walsh, Christopher A.; Zhang, Mengqi; Epilepsy Phenome/Genome Project; Epi4K Consortium
2018
Articles
GeneticsNeurosciencesEpilepsyGenomics

6. Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer’s disease

Chung, Jaeyoon; Zhang, Xiaoling; Allen, Mariet; Wang, Xue; Ma, Yiyi; Beecham, Gary; Montine, Thomas J.; Younkin, Steven G.; Dickson, Dennis W.; Golde, Todd E.; Price, Nathan D.; Ertekin-Taner, Nilüfer; Lunetta, Kathryn L.; Mez, Jesse; Mayeux, Richard Paul; Haines, Jonathan L.; Pericak-Vance, Margaret A.; Schellenberg, Gerard; Jun, Gyungah R.; Farrer, Lindsay A.; The Alzheimer Disease Genetics Consortium
2018
Articles
Nervous system--DiseasesAlzheimer's disease--ResearchGenomicsGeneticsPhenotype

8. Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Zhu, Na; Welch, Carrie L.; Wang, Jiayao; Allen, Philip M.; Gonzaga-Jauregui, Claudia; Ma, Lijiang; King, Alejandra K.; Krishnan, Usha; Rosenzweig, Erika B.; Ivy, D. Dunbar; Austin, Eric D.; Hamid, Rizwan; Pauciulo, Michael W.; Lutz, Katie A.; Nichols, William C.; Reid, Jeffrey G.; Overton, John D.; Baras, Aris; Dewey, Frederick E.; Shen, Yufeng; Chung, Wendy K.
2018
Articles
Pulmonary hypertensionCongenital heart diseaseExomesGeneticsGenomics