Works by Prakash, Siddharth

Results: 56

Enhancing Patient-Centered Care: A Comprehensive Program on Heritable Vascular Diseases for Practitioners.

Published in:

American Journal of Occupational Therapy, 2025, v. 79, p. 1, doi. 10.5014/ajot.2025.79S2-PO79

By:

Lemieux, Brielle;
Fedorchak, Angelica Catherine;
Prakash, Siddharth;
Rich, Diane;
Fog, Robyn

Publication type:

Article

Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a Cohort of Turner Syndrome Patients with 45,X Blood Karyotype.

Published in:

Cytogenetic & Genome Research, 2024, v. 163, n. 5/6, p. 290, doi. 10.1159/000535771

By:

Udo, Emediong Q.;
Truly, Tate;
Peters, Andrew;
Prakash, Siddharth K.;
Rivera, Michelle;
Rodriguez-Buritica, David Felipe

Publication type:

Article

An unusual cause of acute pericarditis: a case report.

Published in:

2021

By:

Salarda, Erika M;
Ocazionez-Trujillo, Daniel;
Prakash, Siddharth K

Publication type:

Case Study

Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación.

Published in:

Archivos de Cardiología de México, 2024, v. 94, n. 2, p. 219, doi. 10.24875/ACM.24000002

By:

Michelena, Hector I.;
della Corte, Alessandro;
Evangelista, Arturo;
Maleszewski, Joseph J.;
Edwards, William D.;
Roman, Mary J.;
Devereux, Richard B.;
Fernández, Borja;
Asch, Federico M.;
Barker, Alex J.;
Sierra, Lilia M.;
de Kerchove, Laurent;
Fernandes, Susan M.;
Fedak, Paul W. M.;
Girdauskas, Evaldas;
Delgado, Victoria;
Abbara, Suhny;
Lansac, Emmanuel;
Prakash, Siddharth K.;
Bissell, Malenka M.

Publication type:

Article

Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.

Published in:

Mammalian Genome, 2001, v. 12, n. 10, p. 796, doi. 10.1007/s00335-001-1006-5

By:

Cormier, Trena A.;
Prakash, Siddharth K.;
Magner, Daniel B.;
Zoghbi, Huda Y.;
van den Veyver, Ignatia B.

Publication type:

Article

Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC).

Published in:

2016

By:

Roman, Mary J.;
Pugh, Norma L.;
Hendershot, Tabitha P.;
Devereux, Richard B.;
Dietz, Hal;
Holmes, Kathryn;
Eagle, Kim A.;
LeMaire, Scott A.;
Milewicz, Dianna M.;
Morris, Shaine A.;
Pyeritz, Reed E.;
Ravekes, William J.;
Shohet, Ralph V.;
Silberbach, Michael;
Dietz, Harry C.;
Habashi, Jennifer;
Prakash, Siddharth K.;
Maslen, Cheryl L.;
Song, Howard K.;
Bavaria, Joseph E.

Publication type:

journal article

Real‐time delay announcement under competition.

Published in:

Production & Operations Management, 2023, v. 32, n. 3, p. 863, doi. 10.1111/poms.13903

By:

Singh, Siddharth Prakash;
Delasay, Mohammad;
Scheller‐Wolf, Alan

Publication type:

Article

Nasolabial Perforator Flap for One-stage Reconstruction of Nasal Defects.

Published in:

Journal of Cutaneous & Aesthetic Surgery, 2017, v. 10, n. 1, p. 22, doi. 10.4103/0974-2077.204576

By:

Prakash, Siddharth;
Panda, Ritesh;
Kumar, Vivek;
Saha, Shiv Shankar;
Choudhary, Lalit;
Pandey, Anurag;
Reddy, J. Sasidhar

Publication type:

Article

Cell‐Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences.

Published in:

Prenatal Diagnosis, 2025, v. 45, n. 4, p. 482, doi. 10.1002/pd.6760

By:

McBride, Audrey;
Cannon, Ashley;
Prakash, Siddharth;
Roberts, Aaron W.;
Seasely, Angela;
Hurst, Anna C. E.;
Hendon, Laura

Publication type:

Article

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.

Published in:

Nature Communications, 2017, v. 8, n. 5, p. 15481, doi. 10.1038/ncomms15481

By:

Yang, Bo;
Zhou, Wei;
Jiao, Jiao;
Nielsen, Jonas B.;
Mathis, Michael R.;
Heydarpour, Mahyar;
Lettre, Guillaume;
Folkersen, Lasse;
Prakash, Siddharth;
Schurmann, Claudia;
Fritsche, Lars;
Farnum, Gregory A.;
Lin, Maoxuan;
Othman, Mohammad;
Hornsby, Whitney;
Driscoll, Anisa;
Levasseur, Alexandra;
Thomas, Marc;
Farhat, Linda;
Dubé, Marie-Pierre

Publication type:

Article

Risk Factors for Thoracic Aortic Dissection.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101814

By:

Zhou, Zhen;
Cecchi, Alana C.;
Prakash, Siddharth K.;
Milewicz, Dianna M.

Publication type:

Article

Incorporating Income Disparity and Utility Heterogeneity in Resource Allocation.

Published in:

Manufacturing & Service Operations Management (M&SOM), 2025, v. 27, n. 3, p. 757, doi. 10.1287/msom.2024.1163

By:

Singh, Siddharth Prakash;
Wu, Owen Q.

Publication type:

Article

An unusual case of knee monoarthritis.

Published in:

International Journal of Rheumatic Diseases, 2009, v. 12, n. 2, p. 158, doi. 10.1111/j.1756-185X.2009.01398.x

By:

CHOUDHURY, Gautam Dhar;
PRAKASH, Siddharth;
MISRA, Ramnath;
AGARWAL, Vikas

Publication type:

Article

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 8, p. 916, doi. 10.1038/ng.2348

By:

Boileau, Catherine;
Guo, Dong-Chuan;
Hanna, Nadine;
Regalado, Ellen S;
Detaint, Delphine;
Gong, Limin;
Varret, Mathilde;
Prakash, Siddharth K;
Li, Alexander H;
d'Indy, Hyacintha;
Braverman, Alan C;
Grandchamp, Bernard;
Kwartler, Callie S;
Gouya, Laurent;
Santos-Cortez, Regie Lyn P;
Abifadel, Marianne;
Leal, Suzanne M;
Muti, Christine;
Shendure, Jay;
Gross, Marie-Sylvie

Publication type:

Article

Congenital Symmastia: A Four-Step, Minimally Invasive Approach.

Published in:

Indian Journal of Plastic Surgery, 2020, v. 53, n. 1, p. 140, doi. 10.1055/s-0040-1710087

By:

Jain, Neha;
Thambiran, Uthraa;
Jain, Leena;
Prakash, Siddharth;
Purohit, Shrirang;
Kumta, Samir

Publication type:

Article

Refining the course: long-term outcome in patients with bicuspid aortic valve.

Published in:

European Heart Journal, 2023, v. 44, n. 43, p. 4563, doi. 10.1093/eurheartj/ehad621

By:

Backer, Julie De;
Prakash, Siddharth K

Publication type:

Article

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3345, doi. 10.1093/hmg/dds166

By:

Dharmadhikari, Avinash V.;
Kang, Sung-Hae L.;
Szafranski, Przemyslaw;
Person, Richard E.;
Sampath, Srirangan;
Prakash, Siddharth K.;
Bader, Patricia I.;
Phillips, John A.;
Hannig, Vickie;
Williams, Misti;
Vinson, Sherry S.;
Wilfong, Angus A.;
Reimschisel, Tyler E.;
Craigen, William J.;
Patel, Ankita;
Bi, Weimin;
Lupski, James R.;
Belmont, John;
Cheung, Sau Wai;
Stankiewicz, Pawel

Publication type:

Article

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 10, p. 1975, doi. 10.1093/hmg/ddr078

By:

Liu, Pengfei;
Erez, Ayelet;
Sreenath Nagamani, Sandesh C.;
Bi, Weimin;
Carvalho, Claudia M. B.;
Simmons, Alexandra D.;
Wiszniewska, Joanna;
Fang, Ping;
Eng, Patricia A.;
Cooper, M. Lance;
Sutton, V. Reid;
Roeder, Elizabeth R.;
Bodensteiner, John B.;
Delgado, Mauricio R.;
Prakash, Siddharth K.;
Belmont, John W.;
Stankiewicz, Pawel;
Berg, Jonathan S.;
Shinawi, Marwan;
Patel, Ankita

Publication type:

Article

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03120-1

By:

Mansoorshahi, Sara;
Scurlock, Cindy;
Research Registry, Scientific Advisory Board of the Turner Syndrome Society of the United States;
Prakash, Siddharth K

Publication type:

Article

Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry.

Published in:

Congenital Heart Disease, 2017, v. 12, n. 6, p. 740, doi. 10.1111/chd.12520

By:

Krepp, Joseph M.;
Roman, Mary J.;
Devereux, Richard B.;
Bruce, Adrienne;
Prakash, Siddharth K.;
Morris, Shaine A.;
Milewicz, Dianna M.;
Holmes, Kathryn W.;
Ravekes, William;
Shohet, Ralph V.;
Pyeritz, Reed E.;
Maslen, Cheryl L.;
Kroner, Barbara L.;
Eagle, Kim A.;
Preiss, Liliana;
Asch, Federico M.

Publication type:

Article

The guidelines for social life cycle assessment of products: just in time!

Published in:

International Journal of Life Cycle Assessment, 2010, v. 15, n. 2, p. 156, doi. 10.1007/s11367-009-0147-8

By:

Benoît, Catherine;
Norris, Gregory A.;
Valdivia, Sonia;
Ciroth, Andreas;
Moberg, Asa;
Bos, Ulrike;
Prakash, Siddharth;
Ugaya, Cassia;
Beck, Tabea

Publication type:

Article

Development and Assessment of a Point-of-Care Application (Genomic Medicine Guidance) for Heritable Thoracic Aortic Disease.

Published in:

JMIRx Med, 2024, v. 5, p. 1, doi. 10.2196/55903

By:

Patil, Rohan;
Ashraf, Fatima;
Abu Dayeh, Samer;
Prakash, Siddharth K

Publication type:

Article

Authors' Response to Peer Reviews of "Development and Assessment of a Point-of-Care Application (Genomic Medicine Guidance) for Heritable Thoracic Aortic Disease".

Published in:

JMIRx Med, 2024, v. 5, p. 1, doi. 10.2196/64436

By:

Patil, Rohan;
Ashraf, Fatima;
Abu Dayeh, Samer;
Prakash, Siddharth K

Publication type:

Article

Pacemaker Endocarditis Viewed via Intracardiac Ultrasonography.

Published in:

Texas Heart Institute Journal, 2008, v. 35, n. 4, p. 487

By:

Prakash, Siddharth;
Bredikis, Audrius

Publication type:

Article

Summary: international consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.

Published in:

European Journal of Cardio-Thoracic Surgery, 2021, v. 60, n. 3, p. 481, doi. 10.1093/ejcts/ezab039

By:

Michelena, Hector I;
Corte, Alessandro Della;
Evangelista, Arturo;
Maleszewski, Joseph J;
Edwards, William D;
Roman, Mary J;
Devereux, Richard B;
Fernández, Borja;
Asch, Federico M;
Barker, Alex J;
Sierra-Galan, Lilia M;
Kerchove, Laurent De;
Fernandes, Susan M;
Fedak, Paul W M;
Girdauskas, Evaldas;
Delgado, Victoria;
Abbara, Suhny;
Lansac, Emmanuel;
Prakash, Siddharth K;
Bissell, Malenka M

Publication type:

Article

International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.

Published in:

European Journal of Cardio-Thoracic Surgery, 2021, v. 60, n. 3, p. 448, doi. 10.1093/ejcts/ezab038

By:

Michelena, Hector I;
Corte, Alessandro Della;
Evangelista, Arturo;
Maleszewski, Joseph J;
Edwards, William D;
Roman, Mary J;
Devereux, Richard B;
Fernández, Borja;
Asch, Federico M;
Barker, Alex J;
Sierra-Galan, Lilia M;
Kerchove, Laurent De;
Fernandes, Susan M;
Fedak, Paul W M;
Girdauskas, Evaldas;
Delgado, Victoria;
Abbara, Suhny;
Lansac, Emmanuel;
Prakash, Siddharth K;
Bissell, Malenka M

Publication type:

Article

Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting.

Published in:

European Journal of Endocrinology, 2024, v. 190, n. 6, p. G53, doi. 10.1093/ejendo/lvae050

By:

Gravholt, Claus H;
Andersen, Niels H;
Christin-Maitre, Sophie;
Davis, Shanlee M;
Duijnhouwer, Anthonie;
Gawlik, Aneta;
Maciel-Guerra, Andrea T;
Gutmark-Little, Iris;
Fleischer, Kathrin;
Hong, David;
Klein, Karen O;
Prakash, Siddharth K;
Shankar, Roopa Kanakatti;
Sandberg, David E;
Sas, Theo C J;
Skakkebæk, Anne;
Stochholm, Kirstine;
Velden, Janielle A van der;
Group, The International Turner Syndrome Consensus;
Backeljauw, Philippe F

Publication type:

Article

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1406

By:

Musfee, Fadi I.;
Guo, Dongchuan;
Pinard, Amélie C.;
Hostetler, Ellen M.;
Blue, Elizabeth E.;
Nickerson, Deborah A.;
Bamshad, Michael J.;
Milewicz, Dianna M.;
Prakash, Siddharth K.

Publication type:

Article

Maternal and fetal outcomes of bicuspid aortic valve with early-onset complications.

Published in:

2023

By:

Truly, Tate;
Huang, Michael;
Prakash, Siddharth K.

Publication type:

journal article

Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 2, p. 211, doi. 10.1093/jbmr/zjae197

By:

Folkestad, Lars;
Prakash, Siddharth K;
Nagamani, Sandesh C S;
Andersen, Niels Holmark;
Carter, Erin;
Hald, Jannie Dahl;
Johnson, Riley J;
Langdahl, Bente;
Perfetto, Eleanor M;
Raggio, Cathleen;
Ralston, Stuart H;
Sandhaus, Robert A;
Semler, Oliver;
Tosi, Laura;
Orwoll, Eric

Publication type:

Article

Unraveling aortic hemodynamics using fluid structure interaction: biomechanical insights into bicuspid aortic valve dynamics with multiple aortic lesions: Unraveling aortic hemodynamics using fluid structure...: V. Govindarajan et al.

Published in:

Biomechanics & Modeling in Mechanobiology, 2025, v. 24, n. 1, p. 17, doi. 10.1007/s10237-024-01892-w

By:

Govindarajan, Vijay;
Wanna, Charles;
Johnson, Nils P.;
Kolanjiyil, Arun V.;
Kim, Hyunggun;
Kitkungvan, Danai;
McPherson, David M.;
Grande-Allen, Jane;
Chandran, Krishnan B.;
Estrera, Antony;
Ramzy, Danny;
Prakash, Siddharth

Publication type:

Article

Biomechanical Evaluation of Aortic Valve Stenosis by Means of a Virtual Stress Test: A Fluid–Structure Interaction Study.

Published in:

Annals of Biomedical Engineering, 2024, v. 52, n. 2, p. 414, doi. 10.1007/s10439-023-03389-6

By:

Govindarajan, Vijay;
Kolanjiyil, Arun;
Wanna, Charles;
Kim, Hyunggun;
Prakash, Siddharth;
Chandran, Krishnan B.;
McPherson, David D.;
Johnson, Nils P.

Publication type:

Article

That's Not Fair: Tariff Structures for Electric Utilities with Rooftop Solar.

Published in:

Manufacturing & Service Operations Management (M&SOM), 2022, v. 24, n. 1, p. 40, doi. 10.1287/msom.2020.0930

By:

Singh, Siddharth Prakash;
Scheller-Wolf, Alan

Publication type:

Article

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Published in:

2016

By:

Shao-Qing Kuang;
Medina-Martinez, Olga;
Dong-chuan Guo;
Limin Gong;
Regalado, Ellen S.;
Reynolds, Corey L.;
Boileau, Catherine;
Jondeau, Guillaume;
Prakash, Siddharth K.;
Kwartler, Callie S.;
Yang Zhu, Lawrence;
Peters, Andrew M.;
Xue-Yan Duan;
Bamshad, Michael J.;
Shendure, Jay;
Nickerson, Debbie A.;
Santos-Cortez, Regie L.;
Xiurong Dong;
Lea, Suzanne M.;
Majesky, Mark W.

Publication type:

journal article

Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación.

Published in:

Archivos de Cardiología de México (English ed Internet), 2024, v. 94, n. 2, p. 219, doi. 10.24875/ACM.24000002

By:

Michelena, Hector I.;
della Corte, Alessandro;
Evangelista, Arturo;
Maleszewski, Joseph J.;
Edwards, William D.;
Roman, Mary J.;
Devereux, Richard B.;
Fernández, Borja;
Asch, Federico M.;
Barker, Alex J.;
Sierra, Lilia M.;
de Kerchove, Laurent;
Fernandes, Susan M.;
Fedak, Paul W. M.;
Girdauskas, Evaldas;
Delgado, Victoria;
Abbara, Suhny;
Lansac, Emmanuel;
Prakash, Siddharth K.;
Bissell, Malenka M.

Publication type:

Article

Misclassification of bicuspid aortic valves is common and varies by imaging modality and patient characteristics.

Published in:

Echocardiography, 2019, v. 36, n. 4, p. 761, doi. 10.1111/echo.14295

By:

Cramer, Peyton M.;
Prakash, Siddharth K.

Publication type:

Article

Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3237, doi. 10.1093/hmg/11.25.3237

By:

Prakash, Siddharth K.;
Cormier, Trena A.;
McCall, Alanna E.;
Garcia, Jesus J.;
Sierra, Rebecca;
Haupt, Bisong;
Zoghbi, Huda Y.;
Van den Veyver, Ignatia B.

Publication type:

Article

Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 477, doi. 10.1093/hmg/9.4.477

By:

Prakash, Siddharth K.;
Paylor, Richard;
Jenna, Sarah;
Lamarche-Vane, Nathalie;
Armstrong, Dawna L.;
Xu, Bisong;
Mancini, Michael A.;
Zoghbi, Huda Y.

Publication type:

Article

Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections.

Published in:

PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002118

By:

Shao-Qing Kuang;
Dong-Chuan Guo;
Prakash, Siddharth K.;
McDonald, Merry-Lynn N.;
Johnson, Ralph J.;
Min Wang;
Regalado, Ellen S.;
Russell, Ludivine;
Jiu-Mei Cao;
Kwartler, Callie;
Fraivillig, Kurt;
Coselli, Joseph S.;
Safi, Hazim J.;
Estrera, Anthony L.;
Leal, Suzanne M.;
LeMaire, Scott A.;
Belmont, John W.;
Milewicz, Dianna M.

Publication type:

Article

Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

Published in:

Journal of the American Heart Association, 2024, v. 13, n. 21, p. 1, doi. 10.1161/JAHA.124.036274

By:

Asokan, Kishan L.;
Landes, Jennifer R.;
Renders, Wannes;
Muiño Mosquera, Laura;
De Backer, Julie;
Jantzen, David W.;
Yetman, Anji T.;
Teixido-Tura, Gisela;
Evangelista, Arturo;
Jeremy, Richmond;
Jones, Edward G.;
Morris, Shaine;
Doan, Tam;
Ouzonian, Maral;
Braverman, Alan;
Jondeau, Guillaume;
Milleron, Olivier;
Milewicz, Dianna M.;
Prakash, Siddharth K.

Publication type:

Article

Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.

Published in:

Journal of the American Heart Association, 2023, v. 12, n. 19, p. 1, doi. 10.1161/JAHA.123.029518

By:

Stephens, Sara B.;
Shalhub, Sherene;
Dodd, Nicholas;
Li, Jesse;
Huang, Michael;
Seitaro Oda;
Kancherla, Kalyan;
Doan, Tam T.;
Prakash, Siddharth K.;
Weigand, Justin D.;
Asch, Federico M.;
Beecroft, Taylor;
Cecchi, Alana;
Shittu, Teniola;
Preiss, Liliana;
LeMaire, Scott A.;
Devereux, Richard B.;
Pyeritz, Reed E.;
Holmes, Kathryn W.;
Roman, Mary J.

Publication type:

Article

The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 7, doi. 10.1002/ajmg.c.31691

By:

Prakash, Siddharth K.

Publication type:

Article

The Turner syndrome research registry: Creating equipoise between investigators and participants.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 135, doi. 10.1002/ajmg.c.31689

By:

Prakash, Siddharth K.;
Lugo‐Ruiz, Soniely;
Rivera‐Dávila, Michelle;
Rubio, Nunilo;
Shah, Avni N.;
Knickmeyer, Rebecca C.;
Scurlock, Cindy;
Crenshaw, Melissa;
Davis, Shanlee M.;
Lorigan, Gary A.;
Dorfman, Aaron T.;
Rubin, Karen;
Maslen, Cheryl;
Bamba, Vaneeta;
Kruszka, Paul;
Silberbach, Michael

Publication type:

Article

"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 36, doi. 10.1002/ajmg.c.31671

By:

Prakash, Siddharth K.;
San Roman, Adrianna K.;
Crenshaw, Melissa;
Flink, Barbara;
Earle, Kimberly;
Los, Evan;
Bonnard, Åsa;
Lin, Angela E.

Publication type:

Article

Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections.

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153543

By:

Prakash, Siddharth;
Kuang, Shao-Qing;
null, null;
Regalado, Ellen;
Guo, Dongchuan;
Milewicz, Dianna

Publication type:

Article

Research Priorities of Individuals and Families With Sex Chromosome Aneuploidies.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63998

By:

Carl, Alexandra;
Bothwell, Samantha;
Farah, Fathia;
Swenson, Karli;
Hong, David;
Prakash, Siddharth;
Strang, John;
Tartaglia, Nicole;
Raznahan, Armin;
Ross, Judith;
Rogol, Alan D.;
Dawczyk, Anna;
Hong, David S.;
Decker, Gail;
Cover, Ginnie;
Cohen, Lilian L.;
Davis, Shanlee;
Gerken, Steve;
Howell, Susan;
Bamba, Vaneeta

Publication type:

Article

Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63819

By:

Klamut, Natalia;
Bothwell, Samantha;
Carl, Alexandra E.;
Bamba, Vaneeta;
Law, Jennifer R.;
Brickman, Wendy J.;
Klein, Karen O.;
Kanakatti Shankar, Roopa;
Pinnaro, Catherina T.;
Fechner, Patricia Y.;
Prakash, Siddharth K.;
Gutmark‐Little, Iris;
Howell, Susan;
Tartaglia, Nicole;
Good, Marybel;
Ranallo, Kelly C.;
Davis, Shanlee M.

Publication type:

Article

X‐linked genetic associations in sporadic thoracic aortic dissection.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63644

By:

Musfee, Fadi I.;
Jun, Goo;
Mitchell, Laura E.;
Chen, Han;
Guo, Dongchuan;
Prakash, Siddharth K.;
Adkar, Shaunak Sanjay;
Grove, Megan L.;
Choi, Ryan Bohyun;
Klarin, Derek;
Boerwinkle, Eric;
Milewicz, Dianna M.

Publication type:

Article

Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 311, doi. 10.1002/ajmg.a.63441

By:

Kanakatti Shankar, Roopa;
Carl, Alexandra;
Law, Jennifer R.;
Bamba, Vaneeta;
Brickman, Wendy J.;
Prakash, Siddharth K.;
Dowlut McElroy, Tazim;
Howell, Susan;
Gutmark Little, Iris;
Klein, Karen O.;
Pinnaro, Catherina T.;
Ranallo, Kelly;
Good, Marybel;
Davis, Shanlee M.

Publication type:

Article

Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 628, doi. 10.1002/ajmg.a.62541

By:

Cecchi, Alana C.;
Haidar, Amier;
Marin, Isabella;
Kwartler, Callie S.;
Prakash, Siddharth K.;
Milewicz, Dianna M.

Publication type:

Article