Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force

Authors: Chen, Faye H., Hartman, Adam L., Letinturier, Mary Catherine V., Antoniadou, Victoria, Baynam, Gareth, Bloom, Lara, Crimi, Marco, Della Rocca, Maria G., Didato, Giuseppe, Houge, Sofia Douzgou, Jonker, Anneliene, Kawome, Martina, Mueller, Friederike, O'Brien, James, Puri, Ratna Dua, Ryan, Nuala, Thong, Meow-Keong, Tumienė, Birutė, Parisi, Melissa A.

Source: In European Journal of Medical Genetics December 2024 72

Implementation of telemedicine in the care of patients with aortic dissection

Authors: Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Wright, Katie, Cotter, Novelett, Yi, Jeniann A., Drudi, Laura M.

Source: In Seminars in Vascular Surgery March 2022 35(1):43-50

Aortic dissection in pregnancy and the postpartum period

Authors: Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Russo, Melissa, Albright, Catherine, David, Carmen, Afifi, Rana

Source: In Seminars in Vascular Surgery March 2022 35(1):60-68

Knowledge gaps in surgical management for aortic dissection

Authors: Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Hebert, Avery M., del Río-Solá, Lourdes, Mussa, Firas

Source: In Seminars in Vascular Surgery March 2022 35(1):35-42

Lived experiences of people with or at risk for aortic dissection: A qualitative assessment

Authors: Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Cotter, Novelett, Soderlund, Timo

Source: In Seminars in Vascular Surgery March 2022 35(1):78-87

An assessment of the current medical management of thoracic aortic disease: A patient-centered scoping literature review

Authors: Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, del Rio-Sola, Lurdes, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, Jeniann A., Eagle, Kim A., Bowman, Marion A. Hofmann, Kline-Rogers, Eva, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Hofmann Bowman, Marion A., Case, Melanie J., Lee, Jenney, Eagle, Kim

Source: In Seminars in Vascular Surgery March 2022 35(1):16-34

Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care

Authors: Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Campos, Chrisanne, Damrauer, Scott M.

Source: In Seminars in Vascular Surgery March 2022 35(1):51-59

A mixed method approach to understanding the impact of COVID-19 on patients with or at risk for aortic dissection

Authors: Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, del Rio-Sola, Lurdes, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, Jeniann A., Eagle, Kim A., Bowman, Marion A. Hofmann, Kline-Rogers, Eva, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Eagle, Kim, Byers, Peter, Klein-Rogers, Eva, Milewicz, Dianna, Mussa, Firas, Soderlund, Timo, Cotter, Novelette

Source: In Seminars in Vascular Surgery March 2022 35(1):100-109

Stakeholder perspectives on education in aortic dissection

Authors: Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole

Source: In Seminars in Vascular Surgery March 2022 35(1):69-77

The mental health impact of aortic dissection

Authors: Case, Melanie, Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, Rio-Sola, Lurdes del, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, JeniannA., Eagle, Kim A., Bowman, Marion A. Hofmann, MS, Eva Kline-Rogers, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Wohlauer, Max

Source: In Seminars in Vascular Surgery March 2022 35(1):88-99

The Aortic Dissection Collaborative: Methods for building capacity for patient-centered outcomes research in the aortic dissection community

Authors: Cotter, Novelett E., David, Carmen C., Fasano, Mark, Goldenberg, Richard, Howitt, Jake, Söderlund, Timo T., Trotter, Debra, Rabin, Asaf, Boehler-Tatman, Mattie, Russo, Melissa L., Drudi, Laura Marie, Marks, Laura L., Yousif, Maisoon D., Hoffstaetter, Tabea, Taubenfeld, Ella, Vemulapalli, Sreekanth, Campos, Chrisanne S., Rusche, Lindsey, Pena, Robert C.F., Mussa, Firas F., MacCarrick, Gretchen, Goldsborough, Earl, III, Samuel, Christeen, Xu, Lillian, Mouawad, Nicolas J., Yassa, Eanas S., Teng, Xiaoyi, Politano, Amani, Teindl, Jesse, Bloom, Lara, Gluck, Rebecca, O'Neal, Meredith Ford, Grima, Josephine, Masciale, Eileen, Ota, Takeyoshi, Wright, Katelyn, Hakim, Alan J., Owens, Gareth, Arnaoutakis, George J., Judelson, Dejah, D'Oria, Mario, del Rio-Sola, Lurdes, Ajalat, Mark, Chau, Marvin, Talutis, Stephanie D., Woo, Karen, Wohlauer, Max V., Yi, Jeniann A., Eagle, Kim A., Bowman, Marion A. Hofmann, Kline-Rogers, Eva, Kim, Hyein, Henoud, Claudine, Damrauer, Scott, Krol, Emilia, Afifi, Rana O., Cecchi, Alana C., Drake, Madeline, Estrera, Anthony, Hebert, Avery M, Milewicz, Dianna M., Prakash, Siddharth K., Roberts, Aaron W., Sandhu, Harleen, Smith-Washington, Akili, Tanaka, Akiko, Watson, Jacob, Ahmad, Myra, Albright, Catherine M., Burke, Christopher R., Byers, Peter H., Kennedy, L'Oreal, Lawrence, Sarah O., Lee, Jenney R., Medina, Jonathan, Nishath, Thamanna, Pham, Julie, Segal, Courtney, Shalhub, Sherene, Soto, Michael, Catalan, Linell, Patterson, Megan, Ilonzo, Nicole, Case, Melanie, Cotter, Novelett, Soderlund, Timo

Source: In Seminars in Vascular Surgery March 2022 35(1):9-15

Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders

Authors: Schubart, Jane R., Bascom, Rebecca, Francomano, Clair A., Bloom, Lara, Hakim, Alan J.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 187(4):609-615

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146908614.0x000001&indx=1&recIds=ETOCvdc_100146908614.0x000001

The power of patient‐led global collaboration

Authors: Bloom, Lara, Schubart, Jane, Bascom, Rebecca, Hakim, Alan, Francomano, Clair A.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 187(4):425-428

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146908023.0x000001&indx=1&recIds=ETOCvdc_100146908023.0x000001

Assessment of the Information Sources and Interest in Research Collaboration Among Individuals with Vascular Ehlers-Danlos Syndrome

Authors: Shalhub, Sherene, Sage, Liz, Demasi, John, Wallace, Stephanie E., Fulton, Daphne S., Bloom, Lara, Driessnack, Martha, Byers, Peter H.

Source: In Annals of Vascular Surgery January 2020 62:326-334

Preferences for coordinated care for rare diseases: discrete choice experiment.

Authors: Morris, Stephen, Walton, Holly, Simpson, Amy, Leeson-Beevers, Kerry, Bloom, Lara, Hunter, Amy, Ramsay, Angus I. G., Fulop, Naomi J., Chitty, Lyn S., Kai, Joe, Sutcliffe, Alastair G., Kokocinska, Maria, Kerecuk, Larissa, Taylor, Christine A., Ng, Pei Li

Source: Orphanet Journal of Rare Diseases; 9/9/2024, Vol. 19 Issue 1, p1-13, 13p

Subject Terms: MEDICAL personnel, MEDICAL records, INTEGRATED health care delivery, RARE diseases, EMERGENCY management, PATIENT preferences

Chapter 6 - Multiple unexplained symptoms: Living with multisystemic connective tissue complications in the absence of a known pathogenic gene variant

Authors: Bloom, Lara C., Francomano, Clair A.

Source: In Symptomatic 2024:51-58

P084 EDS ECHO: virtual case based learning in the assessment and management of Ehlers-Danlos syndrome and hypermobility spectrum disorders

Authors: Hakim, Alan, Schubart, Jane, Francomano, Clair, Bascom, Rebecca, Bloom, Lara

Source: Rheumatology. 60(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100144645086.0x000001&indx=1&recIds=ETOCvdc_100144645086.0x000001

Revisiting the Declaration of Helsinki—A Patient-Centered Perspective.

Authors: Bloom, Lara^1,2 (AUTHOR) lara.bloom@ehlers-danlos.com

Source: JAMA: Journal of the American Medical Association. 1/7/2025, Vol. 333 Issue 1, p22-23. 2p.

Subject Terms: *RESEARCH ethics

How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study.

Authors: Simpson, Amy¹ (AUTHOR) amy.simpson@geneticalliance.org.uk, Bloom, Lara² (AUTHOR), Fulop, Naomi J.³ (AUTHOR), Hudson, Emma⁴ (AUTHOR), Leeson-Beevers, Kerry⁵ (AUTHOR), Morris, Stephen⁴ (AUTHOR), Ramsay, Angus I. G.³ (AUTHOR), Sutcliffe, Alastair G.⁶ (AUTHOR), Walton, Holly³ (AUTHOR), Hunter, Amy¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 2/10/2021, Vol. 16 Issue 1, p1-12. 12p.

Subject Terms: *RARE diseases, *COMPLEX numbers, *TRAVEL costs, *QUALITATIVE research, *SEMI-structured interviews

Geographic Terms: UNITED Kingdom

Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.

Authors: Walton, Holly, Ng, Pei Li, Simpson, Amy, Bloom, Lara, Chitty, Lyn S., Fulop, Naomi J., Hunter, Amy, Jones, Jennifer, Kai, Joe, Kerecuk, Larissa, Kokocinska, Maria, Leeson-Beevers, Kerry, Parkes, Sharon, Ramsay, Angus I. G., Sutcliffe, Alastair, Taylor, Christine, Morris, Stephen

Source: Orphanet Journal of Rare Diseases; 11/23/2023, Vol. 18 Issue 1, p1-22, 22p

Subject Terms: MEDICAL personnel, RARE diseases, INTEGRATED health care delivery, CARE of people, PATIENTS' families, MEDICAL quality control

Geographic Terms: UNITED Kingdom