Next-generation sequencing has diagnostic utility in challenging small/flat urothelial lesions

Authors: Pinard, Amélie, Chen, Constance, Van Ziffle, Jessica, Simko, Jeffry P., Stohr, Bradley A., Chan, Emily

Source: In Annals of Diagnostic Pathology December 2024 73

DIAPH1 Variants in Non—East Asian Patients With Sporadic Moyamoya Disease

Authors: Kundishora, Adam J., Peters, Samuel T., Pinard, Amélie

Source: JAMA neurology. 78(8):993-1003

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN633365269&indx=1&recIds=ETOCRN633365269

Piezo1 is required for outflow tract and aortic valve development.

Authors: Faucherre, Adèle, Moha ou Maati, Hamid, Nasr, Nathalie, Pinard, Amélie, Theron, Alexis, Odelin, Gaëlle, Desvignes, Jean-Pierre, Salgado, David, Collod-Béroud, Gwenaëlle, Avierinos, Jean-François, Lebon, Guillaume, Zaffran, Stéphane, Jopling, Chris

Source: In Journal of Molecular and Cellular Cardiology June 2020 143:51-62

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 of Thoracic and Abdominal Aortic Diseases

Authors: Pinard, Amélie, Jones, Gregory T., Milewicz, Dianna M.

Source: Circulation research. 124(4):588-606

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100076333549.0x000001&indx=1&recIds=ETOCvdc_100076333549.0x000001

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi–Goutières syndrome.

Authors: Karla, Aamuktha R.¹, Pinard, Amélie¹, Boerio, Maura L.¹, Hemelsoet, Dimitri², Tavernier, Simon J.³, De Pauw, Michel⁴, Vereecke, Elke⁵, Fraser, Stuart⁶, Bamshad, Michael J.⁷, Guo, Dongchuan¹, Callewaert, Bert^8,9, Milewicz, Dianna M.¹, dianna.m.milewicz@uth.tmc.edu

Source: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-7, 7p

Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect

Authors: Pinard, Amélie, Eudes, Nathalie, Mitchell, Julia, Bajolle, Fanny, Grelet, Maude, Okoronkwo, Joséphine, Bonnet, Damien, Collod-Béroud, Gwenaelle, Zaffran, Stéphane

Source: MOLECULAR BIOLOGY REPORTS. 45(5):1507-1513

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124201945.0x000001&indx=1&recIds=ETOCvdc_100124201945.0x000001

P535: Validation and real-life experience of a comprehensive, targeted next-generation sequencing panel for hereditary cancer predisposition

Authors: Pinard, Amelie, Chua, Anthony, Hodoglugil, Ugur, Martin, Pierre-Marie, Mak, Julie, Blanco, Amie, Sabbadini, Marta, Rajkovic, Aleksandar, Devine, W. Patrick, Van Ziffle, Jessica

Source: In Genetics in Medicine Open 2023 1(1) Supplement

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

Authors: 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.

Source: Molecular genetics & genomic medicine. 8(10)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108271353.0x000001&indx=1&recIds=ETOCvdc_100108271353.0x000001

Mosaicism for the smooth muscle cell (SMC)-specific knock-in of the Acta2 R179C pathogenic variant: Implications for gene editing therapies

Authors: Kaw, Anita, Pedroza, Albert J., Chattopadhyay, Abhijnan, Pinard, Amelie, Guo, Dongchuan, Kaw, Kaveeta, Zhou, Zhen, Shad, Rohan, Fischbein, Michael P., Kwartler, Callie S., Milewicz, Dianna M.

Source: In Journal of Molecular and Cellular Cardiology October 2022 171:102-104

Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.

Authors: Pinard, Amélie¹ (AUTHOR), Ye, Wenlei² (AUTHOR), Fraser, Stuart M³ (AUTHOR), Rosenfeld, Jill A⁴ (AUTHOR), Pichurin, Pavel⁵ (AUTHOR), Hickey, Scott E^6,7 (AUTHOR), Guo, Dongchuan¹ (AUTHOR), Cecchi, Alana C¹ (AUTHOR), Boerio, Maura L¹ (AUTHOR), Guey, Stéphanie⁸ (AUTHOR), Aloui, Chaker⁸ (AUTHOR), Lee, Kwanghyuk⁴ (AUTHOR), Kraemer, Markus^9,10 (AUTHOR), Alyemni, Saleh Omar¹¹ (AUTHOR), Genomics, University of Washington Center for Mendelian (AUTHOR), Bamshad, Michael J¹² (AUTHOR), Nickerson, Deborah A¹³ (AUTHOR), Tournier-Lasserve, Elisabeth^8,14 (AUTHOR), Haider, Shozeb^11,15 (AUTHOR), Jin, Sheng Chih^16,17 (AUTHOR)

Source: Brain: A Journal of Neurology. Sep2023, Vol. 146 Issue 9, p3616-3623. 8p.

Subject Terms: *MOYAMOYA disease, *CHLORIDE channels, *INTERNAL carotid artery, *ETIOLOGY of diseases, *YOUNG adults

Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease

Authors: Boerio, Maura L., Engelhardt, Nicole M., Cuddapah, Sanmati, Gold, Jessica I., Marin, Isabella C., Pinard, Amélie, Guo, Dongchuan, Prakash, Siddharth K., Milewicz, Dianna M.

Source: Circulation.Genomic and precision medicine. 15(6):e003707-e003707

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100177064558.0x000001&indx=1&recIds=ETOCvdc_100177064558.0x000001

A genome-wide approach reveals novel imprinted genes expressed in the human placenta

Authors: Barbaux, Sandrine, Gascoin-Lachambre, Géraldine, Buffat, Christophe, Monnier, Paul, Mondon, Françoise, Tonanny, Marie-Béatrice, Pinard, Amélie, Auer, Jana, Bessières, Bettina, Barlier, Anne, Jacques, Sébastien, Simeoni, Umberto, Dandolo, Luisa, Letourneur, Franck, Jammes, Hélène, Vaiman, Daniel

Source: Epigenetics. 7(9):1079-1090

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100056847046.0x000001&indx=1&recIds=ETOCvdc_100056847046.0x000001

Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.

Authors: Odelin, Gaëlle, Faucherre, Adèle, Marchese, Damien, Pinard, Amélie, Jaouadi, Hager, Le Scouarnec, Solena, FranceGenRef Consortium, Deleuze, Jean-François, Génin, Emmanuelle, Lindenbaum, Pierre, Redon, Richard, Schott, Jean-Jacques, Chiarelli, Raphaël, Achouri, Younes, Faure, Emilie, Herbane, Marine, Théron, Alexis, Avierinos, Jean-François, Jopling, Chris, Collod-Béroud, Gwenaëlle

Source: Nature Communications; 3/20/2023, Vol. 14 Issue 1, p1-17, 17p

Subject Terms: AORTIC valve, MITRAL valve, BRACHYDANIO, MICE, CELL migration, HISTIDINE

Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment.

Authors: Cecchi, Alana C., Boerio, Maura L., Marin, Isabella, Pinard, Amélie, Milewicz, Dianna M.

Source: Journal of the American Heart Association; 4/19/2022, Vol. 11 Issue 8, p1-4, 4p

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: In The American Journal of Human Genetics 5 April 2018 102(4):706-712

Association of De Novo Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.

Authors: Pinard, Amélie, Fiander, Maximillian D. J., Cecchi, Alana C., Rideout, Andrea L., Azouz, Mohamed, Fraser, Stuart M., Daniel McNeely, P., Walling, Simon, Novara, Sarah C., Hurst, Anna C. E., Guo, Dongchuan, Parkash, Sandhya, Bamshad, Michael J., Nickerson, Deborah A., Vandersteen, Anthony M., Milewicz, Dianna M., McNeely, P Daniel

Source: Neurology; 3/30/2021, Vol. 96 Issue 13, pe1783-e1791, 9p

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