The mental health and traumatic experiences of mothers of children with 22q11DS.

Alternate Title: La salud mental y las experiencias traumáticas de madres de niños con SD22q11.

Authors: Finless, Alexandra¹, Rideout, Andrea L.², Ting Xiong³, Carbyn, Holly³, Lingley-Pottie, Patricia³, Palmer, Lisa D.^4,5, Shugar, Andrea^6,7, McDonald-McGinn, Donna M.^8,9, McGrath, Patrick J.^3,10, Bassett, Anne S.^4,5, Cytrynbaum, Cheryl^6,7, Orr, Matt³, Swillen, Ann^11,12, Meier, Sandra^3,10 Sandra.meier@iwk.nshealth.ca

Source: European Journal of Psychotraumatology. 2024, Vol. 15 Issue 1, p1-10. 10p.

Subject Terms: *22Q11 deletion syndrome, *MENTAL illness, *MENTAL health, *VIRTUAL reality therapy, *MENTAL health surveys, *POST-traumatic stress disorder

Front row seat: The role MMI assessors play in widening access to medical school.

Authors: Melro, Carolyn M.¹, Pack, Rachael², MacLeod, Anna¹, Rideout, Andrea³, Watson-Creed, Gaynor⁴, Burm, Sarah¹, Sarah.Burm@dal.ca

Source: Medical Teacher; Aug2024, Vol. 46 Issue 8, p1052-1059, 8p

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

Authors: Karoulias, Stylianos Z., Beyens, Aude, Balic, Zerina, Symoens, Sofie, Vandersteen, Anthony, Rideout, Andrea L., Dickinson, John, Callewaert, Bert, Hubmacher, Dirk

Source: In Matrix Biology June 2020 88:1-18

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

Authors: Duong, June, Rideout, Andrea, MacKay, Sara, Beis, Jill, Parkash, Sandhya, Schwarze, Ulrike, Horne, S. Gabrielle, Vandersteen, Anthony

Source: In European Journal of Medical Genetics February 2020 63(2)

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

Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

Authors: Verstraeten, Aline, Perik, Melanie H.A.M., Baranowska, Anna A., Meester, Josephina A.N., Van Den Heuvel, Lotte, Bastianen, Jarl, Kempers, Marlies, Krapels, Ingrid P.C., Maas, Angela, Rideout, Andrea, Vandersteen, Anthony, Sobey, Glenda, Johnson, Diana, Fransen, Erik, Ghali, Neeti, Webb, Tom, Al-Hussaini, Abtehale, de Leeuw, Peter, Delmotte, Philippe, Lopez-Sublet, Marilucy, Pappaccogli, Marco, Sprynger, Muriel, Toubiana, Laurent, Van Laer, Lut, Van Dijk, Fleur S., Vikkula, Miikka, Samani, Nilesh J., Persu, Alexandre, Adlam, David, Loeys, Bart

Source: Circulation. 142(10):1021-1024

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100150443546.0x000001&indx=1&recIds=ETOCvdc_100150443546.0x000001

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

Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72 : A Case Report.

Authors: LeBlanc, Marissa A., Gough, Amy, Rideout, Andrea L., Dyack, Sarah, Singh, Kathleen, MacNeil, Meagan

Source: Journal of Geriatric Psychiatry & Neurology; Mar2024, Vol. 37 Issue 2, p157-162, 6p

Subject Terms: SYMPTOMS, GENETIC mutation, GENETIC testing, MEDICAL personnel, CEREBELLUM degeneration, FRONTOTEMPORAL dementia

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Authors: Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Jr., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria Luz, Dyack, Sarah, Price, Victoria, Rideout, Andrea, Gordon, Kevin, Wevers, Ron A., “Kling” Chong, W.K., Mills, Philippa B.

Source: In The American Journal of Human Genetics 9 March 2012 90(3):457-466

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

Authors: Guernsey, Duane L., Jiang, Haiyan, Hussin, Julie, Arnold, Marc, Bouyakdan, Khalil, Perry, Scott, Babineau-Sturk, Tina, Beis, Jill, Dumas, Nadine, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Patry, Lysanne, Rideout, Andrea L., Thomas, Aidan, Orr, Andrew, Hoffmann, Ingrid, Michaud, Jacques L., Awadalla, Philip, Meek, David C., Ludman, Mark, Samuels, Mark E.

Source: In The American Journal of Human Genetics 9 July 2010 87(1):40-51

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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SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

Authors: Hostetler, Ellen M., Regalado, Ellen S., Dong-Chuan Guo, Hanna, Nadine, Arnaud, Pauline, Muiño-Mosquera, Laura, Callewaert, Bert Louis, Kwanghyuk Lee, Leal, Suzanne M., Wallace, Stephanie E., Rideout, Andrea L., Dyack, Sarah, Aatre, Rajani D., Boileau, Catherine, De Backer, Julie, Jondeau, Guillaume, Milewicz, Dianna M.

Source: Journal of Medical Genetics; Apr2019, Vol. 56 Issue 4, p252-260, 9p

Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer.

Authors: Gaston, Daniel¹, Hansford, Samantha², Oliveira, Carla³, Nightingale, Mathew¹, Pinheiro, Hugo³, Macgillivray, Christine⁴, Kaurah, Pardeep², Rideout, Andrea L.⁵, Steele, Patricia⁵, Soares, Gabriela⁶, Huang, Weei-Yuarn⁷, Whitehouse, Scott¹, Blowers, Sarah⁸, LeBlanc, Marissa A.¹, Jiang, Haiyan⁹, Greer, Wenda¹, Samuels, Mark E.^1,10, Orr, Andrew^1,4, Fernandez, Conrad V.¹¹, Majewski, Jacek¹²

Source: PLoS Genetics; Oct2014, Vol. 10 Issue 10, p1-14, 14p

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Authors: Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria Luz, Dyack, Sarah, Price, Victoria, Rideout, Andrea, Gordon, Kevin, Wevers, Ron A., Chong, W.K. ''Kling'', Mills, Philippa B.

Source: American journal of human genetics. 99(2):521-521

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100065318760.0x000001&indx=1&recIds=ETOCvdc_100065318760.0x000001

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SMAD3pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

Authors: Hostetler, Ellen M, Regalado, Ellen S, Guo, Dong-Chuan, Hanna, Nadine, Arnaud, Pauline, Muiño-Mosquera, Laura, Callewaert, Bert Louis, Lee, Kwanghyuk, Leal, Suzanne M, Wallace, Stephanie E, Rideout, Andrea L, Dyack, Sarah, Aatre, Rajani D, Boileau, Catherine, De Backer, Julie, Jondeau, Guillaume, Milewicz, Dianna M

Source: Journal of Medical Genetics (JMG); 2019, Vol. 56 Issue: 4 p252-260, 9p

Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

Authors: Guernsey, Duane L., Jiang, Haiyan, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Nightingale, Mathew, Rideout, Andrea L., Provost, Sylvie, Bedard, Karen, Orr, Andrew, Dubé, Marie-Pierre, Ludman, Mark, Samuels, Mark E.

Source: In The American Journal of Human Genetics 2009 85(1):120-129

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548 Gastrointestinal (GI) Findings in Patients With Biallelic Mismatch Repair (BMMRD) Gene Deficiency Syndrome: Report From the International Consortium

Authors: Durno, Carol, Aronson, Melyssa, Tabori, Uri, Gallinger, Steven, Cohen, Shlomi, Dvir, Rina, Elhasid, Ronit, Feldman, Hagit B., Druker, Harriet, Chan, Helen, Ling, Simon, Kortan, Paul P., Holter, Spring, Semotiuk, Kara, Malkin, David, Farah, Roula, Leach, Brandie, Kalady, Matthew F., Penney, Lynette S., Rideout, Andrea L., Rashid, Mohsin, Hasadsri, Linda, Pichurin, Pavel, Riegert-Johnson, Douglas, Campbell, Brittany, Bakry, Doua, Rimawi, Hala, Alharbi, Qasim K., Alharbi, Musa M., Ashraf, Shamvil, Kariv, Revital, Sayad, Alain, Cohen, Zane

Source: In Gastroenterology April 2015 148(4) Supplement 1:S