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1. 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

2. Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study

Rasouly, Hila Milo; Wynn, Julia; Marasa, Maddalena; Reingold, Rachel; Chatterjee, Debanjana; Kapoor, Sheena; Piva, Stacy E.; Kil, Byum Hee; Mu, Xueru; Alvarez, Maria C.; Nestor, Jordan Gabriela; Mehl, Karla; Revah-Politi, Anya; Lippa, Natalie C.; Ernst, Michelle E.; Bier, Louise E.; Espinal, Aileen; Haser, Bianca; Sinha, Anoushka; Halim, Ian; Fasel, David; Cuneo, Nicole; Thompson, Jacqueline Jamir; Verbitsky, Miguel; Cohn, Elizabeth Gross; Goldman, Jill; Marder, Karen; Klitzman, Robert L.; Orjuela, Manuela A.; So, Yat S.; Fedotov, Alexander; Crew, Katherine; Kiryluk, Krzysztof; Appelbaum, Paul S.; Weng, Chunhua; Siegel, Karolynn; Gharavi, Ali G.; Chung, Wendy K.
2019
Articles
Genetics—ResearchResearch--Moral and ethical aspectsMulticulturalismPersonalized medicineMedicine--Research

3. 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

4. De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Hiatt, Susan M.; Neu, Matthew B.; Ramaker, Ryne C.; Hardigan, Andrew A.; Prokop, Jeremy W.; Hancarova, Miroslava; Prchalova, Darina; Havlovicova, Marketa; Prchal, Jan; Stranecky, Viktor; Yim, Dwight K. C.; Powis, Zöe; Keren, Boris; Nava, Caroline; Mignot, Cyril; Rio, Marlene; Revah-Politi, Anya; Hemati, Parisa; Stong, Nicholas; Iglesias, Alejandro D.; Suchy, Sharon F.; Willaert, Rebecca; Wentzensen, Ingrid M.; Wheeler, Patricia G.; Brick, Lauren; Kozenko, Mariya; Hurst, Anna C. E.; Wheless, James W.; Lacassie, Yves; Myers, Richard M.; Barsh, Gregory S.; Sedlacek, Zdenek; Cooper, Gregory M.
2018
Articles
GeneticsDevelopmental disabilities--Genetic aspectsGuanosine triphosphataseRecombinant proteins

6. meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays

Gelfman, Sahar; Wang, Quanli; Lu, Yi-Fan; Hall, Diana; Bostick, Christopher D.; Dhindsa, Ryan; Halvorsen, Matt; McSweeney, K. Melodi; Cotterill, Ellese; Edinburgh, Tom; Beaumont, Michael Aaron; Frankel, Wayne; Petrovski, Slave; Allen, Andrew S.; Boland, Michael J.; Goldstein, David B.; Eglen, Stephen J.
2018
Articles
Neural circuitryMicroelectrodesNervous system--DiseasesNeural circuitry--Mathematical modelsNeurologyAlgorithms

7. A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

Zhu, Xiaolin; Padmanabhan, Raghavendra; Copeland, Brett; Bridgers, Joshua S.; Ren, Zhong; Kamalakaran, Sitharthan; O’Driscoll-Collins, Ailbhe; Berkovic, Samuel F.; Scheffer, Ingrid E.; Poduri, Annapurna; Mei, Davide; Guerrini, Renzo; Lowenstein, Daniel H.; Allen, Andrew S.; Heinzen, Erin L.; Goldstein, David B.
2017
Articles
Epilepsy--Genetic aspectsMutation (Biology)Nucleotide sequenceGenetics