Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease

Authors: Tumulak, Ma-Am Joy R., Padilla, Carmencita D., Ongchangco, Jose Carlo E., Laurino, Mercy Y., Lagarde, John Benedict B., Regalado, Ellen S., Legaspi, Augusto V., Ventura, Elizabeth R.

Source: In Genetics in Medicine Open 2024 2

Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility

Authors: Murad, Andrea M., Hill, Hannah L., Wang, Yu, Ghannam, Michael, Yang, Min‐Lee, Pugh, Norma L., Asch, Federico M., Hornsby, Whitney, Driscoll, Anisa, McNamara, Jennifer, Willer, Cristen J., Regalado, Ellen S., Milewicz, Dianna M., Eagle, Kim A., Ganesh, Santhi K.

Source: American journal of medical genetics.Part A. 188(5):1448-1456

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146658770.0x000001&indx=1&recIds=ETOCvdc_100146658770.0x000001

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Authors: Pinard, Amélie, Guey, Stéphanie, Guo, Dongchuan, Cecchi, Alana C., Kharas, Natasha, Wallace, Stephanie, Regalado, Ellen S., Hostetler, Ellen M., Sharrief, Anjail Z., Bergametti, Françoise, Kossorotoff, Manoelle, Hervé, Dominique, Kraemer, Markus, Bamshad, Michael J., Nickerson, Deborah A., Smith, Edward R., Tournier-Lasserve, Elisabeth, Milewicz, Dianna M. ^*

Source: In Genetics in Medicine February 2020 22(2):427-431

Genetics and Precision Medicine: Heritable Thoracic Aortic Disease

Authors: Demo, Erin, Rigelsky, Christina, Rideout, Andrea L., Graf, Madeline, Pariani, Mitchel, Regalado, Ellen, MacCarrick, Gretchen

Source: In Medical Clinics of North America November 2019 103(6):1005-1019

A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis

Authors: Shalhub, Sherene, Byers, Peter H., Hicks, Kelli L., Coleman, Dawn M., Davis, Frank M., De Caridi, Giovanni, Weaver, K. Nicole, Miller, Erin M., Schermerhorn, Marc L., Shean, Katie, Oderich, Gustavo, Ribeiro, Mauricio, Nishikawa, Cole, Charlton-Ouw, Kristofer, Behrendt, Christian-Alexander, Debus, E. Sebastian, von Kodolitsch, Yskert, Zarkowsky, Devin, Powell, Richard J., Pepin, Melanie, Milewicz, Dianna M., Regalado, Ellen S., Lawrence, Peter F., Woo, Karen

Source: Journal of vascular surgery. 71(1):149-157

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097658321.0x000001&indx=1&recIds=ETOCvdc_100097658321.0x000001

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Authors: Wallace, Stephanie E., Regalado, Ellen S., Gong, Limin, Janda, Alexandra L., Guo, Dong-chuan, Russo, Claudio F., Kulmacz, Richard J., Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine, Arnaud, Pauline, Lee, Kwanghyuk, Leal, Suzanne M., Hannuksela, Matias, Carlberg, Bo, Johnston, Tami, Antolik, Christian, Hostetler, Ellen M., Colombo, Roberto, Milewicz, Dianna M.

Source: In Genetics in Medicine January 2019 21(1):144-151

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Authors: Regalado, Ellen S., Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C., Ades, Lesley, Benedict, Susan, Bradley, Timothy J., Brickner, M.Elizabeth, Chatfield, Kathryn C., Child, Anne, Feist, Cori, Holmes, Kathryn W., Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A., Mitchell, Anna L., Ostergaard, John R., Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M.

Source: In Genetics in Medicine October 2018 20(10):1206-1215

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms

Authors: Tan, Kai Li, Haelterman, Nele A., Kwartler, Callie S., Regalado, Ellen S., Lee, Pei-Tseng, Nagarkar-Jaiswal, Sonal, Guo, Dong-Chuan, Duraine, Lita, Wangler, Michael F., Bamshad, Michael J., Nickerson, Deborah A., Lin, Guang, Milewicz, Dianna M., Bellen, Hugo J.

Source: In Developmental Cell 23 April 2018 45(2):226-244

Grange syndrome due to homozygous YY1AP1 missense rare variants

Authors: Ciuffetelli Alamo, Isabella V., Kwartler, Callie S., Regalado, Ellen R., Afifi, Rana O., Parkash, Sandhya, Rideout, Andrea, Guo, Dong‐chuan, Milewicz, Dianna M.

Source: American journal of medical genetics.Part A. 179(12):2500-2505

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100092703280.0x000001&indx=1&recIds=ETOCvdc_100092703280.0x000001

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

Authors: Duan, Xue-Yan, Guo, Dong-chuan, Regalado, Ellen, Shen, Hong, Coselli, Joseph, Estrera, Anthony, Safi, Hazim, Bamshad, Michael, Nickerson, Deborah, LeMaire, Scott, Backer, Julie, Milewicz, Dianna

Source: European journal of human genetics. 27(7):1054-1060

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181197058.0x000001&indx=1&recIds=ETOCvdc_100181197058.0x000001

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome

Authors: Shalhub, Sherene, Byers, Peter H., Hicks, Kelli L., Charlton-Ouw, Kristofer, Zarkowsky, Devin, Coleman, Dawn M., Davis, Frank M., Regalado, Ellen S., De Caridi, Giovanni, Weaver, K. Nicole, Miller, Erin M., Schermerhorn, Marc L., Shean, Katie, Oderich, Gustavo, Ribeiro, Mauricio, Nishikawa, Cole, Behrendt, Christian-Alexander, Debus, E. Sebastian, von Kodolitsch, Yskert, Powell, Richard J., Pepin, Melanie, Milewicz, Dianna M., Lawrence, Peter F., Woo, Karen

Source: Journal of vascular surgery. 70(5):1543-1554

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100091128256.0x000001&indx=1&recIds=ETOCvdc_100091128256.0x000001

The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln)

Authors: Shalhub, Sherene, Regalado, Ellen S., Guo, Dong-Chuan, Milewicz, Dianna M.

Source: Journal of vascular surgery. 70(3):718-723

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087173319.0x000001&indx=1&recIds=ETOCvdc_100087173319.0x000001

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Authors: Guo, Dong-chuan, Duan, Xue-Yan, Regalado, Ellen S., Mellor-Crummey, Lauren, Kwartler, Callie S., Kim, Dong, Lieberman, Kenneth, de Vries, Bert B.A., Pfundt, Rolph, Schinzel, Albert, Kotzot, Dieter, Shen, Xuetong, Yang, Min-Lee, Bamshad, Michael J., Nickerson, Deborah A., Gornik, Heather L., Ganesh, Santhi K., Braverman, Alan C., Grange, Dorothy K., Milewicz, Dianna M.

Source: In The American Journal of Human Genetics 5 January 2017 100(1):21-30

P222: TTN truncating variants are enriched in cardiomyopathy/arrhythmia and neuromuscular cases and M-band exon 358 contributes to primary cardiomyopathy/arrhythmia

Authors: Regalado, Ellen, Swartzlander, Dan, Nagl, Andrea, Mannello, Meghan, Lewis, Rachel, Clemens, Daniel, Garcia, John, Morales, Ana, Ting, Yi-Lee, Vatta, Matteo

Source: In Genetics in Medicine Open 2024 2 Supplement 1

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

Authors: Guo, Dong-chuan, Regalado, Ellen S., Pinard, Amelie, Chen, Jiyuan, Lee, Kwanghyuk, Rigelsky, Christina, Zilberberg, Lior, Hostetler, Ellen M., Aldred, Micheala, Wallace, Stephanie E., Prakash, Siddharth K., Leal, Suzanne M., Bamshad, Michael J., Nickerson, Deborah A., Natowicz, Marvin, Rifkin, Daniel B., Milewicz, Dianna M.

Source: American journal of human genetics. 102(4):706-712

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111473791.0x000001&indx=1&recIds=ETOCvdc_100111473791.0x000001

Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections

Authors: Milewicz, Dianna M., Trybus, Kathleen M., Guo, Dong-chuan, Sweeney, H. Lee, Regalado, Ellen, Kamm, Kristine, Stull, James T.

Source: Arteriosclerosis, thrombosis, and vascular biology. 37(1):26-34

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100042283078.0x000001&indx=1&recIds=ETOCvdc_100042283078.0x000001

Use of genetics for personalized management of heritable thoracic aortic disease: How do we get there?

Authors: Milewicz, Dianna M., Regalado, Ellen S.

Source: In The Journal of Thoracic and Cardiovascular Surgery February 2015 149(2) Supplement:S3-S5

Healthcare Utilization In Cardiomyopathy Patients Who Had Genetic Testing Before Or After Diagnosis

Authors: Moretz, Chad, Smith, Elizabeth M, Aradhya, Swaroop, Callis, Tom, Esplin, Edward, Hatchell, Kathryn, Hall, Taryn, Nussbaum, Robert, Morales, Ana, Regalado, Ellen, Ren, Sheng, Rojahn, Susan, Vatta, Matteo, Murillo, Jaime

Source: Journal of cardiac failure. 29(4):571-571

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188037184.0x000001&indx=1&recIds=ETOCvdc_100188037184.0x000001

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections

Authors: Milewicz, Dianna M., Regalado, Ellen S., Shendure, Jay, Nickerson, Deborah A., Guo, Dong-chuan

Source: In Trends in Cardiovascular Medicine February 2014 24(2):53-60

Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections

Authors: Guo, Dong-chuan, Grove, Megan L., Prakash, Siddharth K., Eriksson, Per, Hostetler, Ellen M., LeMaire, Scott A., Body, Simon C., Shalhub, Sherene, Estrera, Anthony L., Safi, Hazim J., Regalado, Ellen S., Zhou, Wei, Mathis, Michael R., Eagle, Kim A., Yang, Bo, Willer, Cristen J., Boerwinkle, Eric, Milewicz, Dianna M.

Source: American journal of human genetics. 99(3):762-769

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100066839122.0x000001&indx=1&recIds=ETOCvdc_100066839122.0x000001