Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Authors: Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara, Hartley, Taila, Acker, Meryl, Fooks, Katharine, Gillespie, Meredith K., Price, E. Magda, Graham, Ian D., White-Brown, Alexandre, MacKay, Layla, Macdonald, Stella K., Brady, Lauren, Hui, Angela Y., Andrews, Joseph D., Chowdhury, Ashfia, Wall, Erika, Soubry, Élisabeth, Ediae, Grace U., Rojas, Samantha, Assamad, Daniel, Tarnopolsky, Mark, Sawyer, Sarah L., Chisholm, Caitlin, Lemire, Gabrielle, Amburgey, Kimberly, Lazier, Joanna, Mendoza-Londono, Roberto, Dowling, James J., Balci, Tugce B., Armour, Christine M., Bhola, Priya T., Costain, Gregory, Dupuis, Lucie, Carter, Melissa, Badalato, Lauren, Richer, Julie, Boswell-Patterson, Christie, Kannu, Peter, Cordeiro, Dawn, Warman-Chardon, Jodi, Graham, Gail, Siu, Victoria Mok, Cytrynbaum, Cheryl, Rusnak, Alison, Aul, Ritu B., Yoon, Grace, Gonorazky, Hernan, McNiven, Vanda, Mercimek-Andrews, Saadet, Guerin, Andrea, Deshwar, Ashish R., Marwaha, Ashish, Weksberg, Rosanna, Karp, Natalya, Campbell, Maggie, Al-Qattan, Sarah, Shuen, Andrew Y., Inbar-Feigenberg, Michal, Cohn, Ronald, Szuto, Anna, Inglese, Cara, Poirier, Myriam, Chad, Lauren, Potter, Beth, Boycott, Kym M.

Source: In Genetics in Medicine February 2024 26(2)

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit

Authors: Hunter‐Schouela, Julia, Geraghty, Michael T., Hegele, Robert A., Dyment, David A., St Pierre, David, Richer, Julie, Sheffield, Holden, Zariwala, Maimoona A., Knowles, Michael R., Lehman, Anna, Dell, Sharon, Shapiro, Adam J., Kovesi, Thomas A.

Source: Pediatric pulmonology. 58(7):1942-1949

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195585029.0x000001&indx=1&recIds=ETOCvdc_100195585029.0x000001

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study

Authors: Elliott, Alison M., Dragojlovic, Nick, Campbell, Teresa, Adam, Shelin, du Souich, Christèle, Fryer, Michele, Lehman, Anna, van Karnebeek, Clara, Lynd, Larry D., Friedman, Jan M.

Source: Journal of telemedicine and telecare. 29(4):318-327

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN633472693&indx=1&recIds=ETOCRN633472693

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy

Authors: Karaa, Amel, Bertini, Enrico, Carelli, Valerio, Cohen, Bruce H., Enns, Gregory M., Falk, Marni J., Goldstein, Amy, Gorman, Gráinne Siobhan, Haas, Richard, Hirano, Michio, Klopstock, Thomas, Koenig, Mary Kay, Kornblum, Cornelia, Lamperti, Costanza, Lehman, Anna, Longo, Nicola, Molnar, Maria Judit, Parikh, Sumit, Phan, Han, Pitceathly, Robert D.S., Saneto, Russell, Scaglia, Fernando, Servidei, Serenella, Tarnopolsky, Mark, Toscano, Antonio, Van Hove, Johan L.K., Vissing, John, Vockley, Jerry, Finman, Jeffrey S., Brown, David A., Shiffer, James A., Mancuso, Michelango

Source: Neurology. 101(3):e238-e252

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192337836.0x000001&indx=1&recIds=ETOCvdc_100192337836.0x000001

Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction

Authors: Ni, Mingke, Li, Yanhui, Wei, Jinhong, Song, Zhenpeng, Wang, Hui, Yao, Jinjing, Chen, Yong-Xiang, Belke, Darrell, Estillore, John Paul, Wang, Ruiwu, Vallmitjana, Alexander, Benitez, Raul, Hove-Madsen, Leif, Feng, Wei, Chen, Ju, Roston, Thomas M., Sanatani, Shubhayan, Lehman, Anna, Chen, S.R. Wayne

Source: Circulation research. 133(2):177-192

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191711486.0x000001&indx=1&recIds=ETOCvdc_100191711486.0x000001

Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC‐related disorder

Authors: Sage, Adam P., Lee, Hyun Kyung, Dalmann, Joshua, Lin, Susan, Samra, Simran, Salman, Areesha, Del Bel, Kate L., Li, Wenhui Laura, Lehman, Anna, Turvey, Stuart E., Boerkoel, Cornelius F., Richmond, Phillip A.

Source: American journal of medical genetics.Part A. 191(8):2219-2224

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191123189.0x000001&indx=1&recIds=ETOCvdc_100191123189.0x000001

Macrocytosis in Mitochondrial DNA Deletion Syndromes

Authors: Almarzooqi, Farida, Vallance, Hilary, Mezei, Michelle, Lehman, Anna, Horvath, Gabriella, Rakic, Bojana, Zypchen, Leslie, Mattman, Andre

Source: Acta haematologica. 146(3):220-225

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185355151.0x000001&indx=1&recIds=ETOCvdc_100185355151.0x000001

NOTCH1 loss of the TAD and PEST domain: An antimorph?

Authors: Boerkoel, Pierre, Huynh, Stephanie, Yang, Gui Xiang, Boerkoel, Cornelius F., Patel, Millan S., Lehman, Anna, Terry, Jefferson, Elbert, Adrienne

Source: American journal of medical genetics.Part A. 191(6):1593-1598

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184363380.0x000001&indx=1&recIds=ETOCvdc_100184363380.0x000001

Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population

Authors: Al Zahrani, Haifa, Siriwardena, Komudi, Young, Dana, Lehman, Anna, Horvath, Gabriella A., Goez, Helly

Source: In Molecular Genetics and Metabolism December 2022 137(4):420-427

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy

Authors: Sharma, Mehul, Fu, Maggie P., Lu, Henry Y., Sharma, Ashish A., Modi, Bhavi P., Michalski, Christina, Lin, Susan, Dalmann, Joshua, Salman, Areesha, Del Bel, Kate L., Waqas, Meriam, Terry, Jefferson, Setiadi, Audi, Lavoie, Pascal M., Wasserman, Wyeth W., Mwenifumbo, Jill, Kobor, Michael S., Lee, Anna F., Kuchenbauer, Florian, Lehman, Anna, Cheng, Sylvia, Cooper, Anthony, Patel, Millan S., Turvey, Stuart E.

Source: In Blood 27 October 2022 140(17):1858-1874

Impact of Variation in Practice in the Prenatal Reporting of Variants of Uncertain Significance by Commercial Laboratories: Need for Greater Adherence to Published Guidelines

Authors: Cornthwaite, Melissa, Turner, Kelly, Armstrong, Linlea, Boerkoel, Cornelius F., Chang, Caitlin, Lehman, Anna, Nikkel, Sarah M., Patel, Millan S., van Allen, Margot, Langlois, Sylvie

Source: Obstetrical & gynecological survey. 78(5):266-268

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190017125.0x000001&indx=1&recIds=ETOCvdc_100190017125.0x000001

Return of Results Policies for Genomic Research: Current Practices and the Hearts in Rhythm Organization (HiRO) Approach

Authors: Comber, Drake A., Davies, Brianna, Roberts, Jason D., Tadros, Rafik, Green, Martin S., Healey, Jeffrey S., Simpson, Christopher S., Sanatani, Shubhayan, Steinberg, Christian, MacIntyre, Ciorsti, Angaran, Paul, Duff, Henry, Hamilton, Robert, Arbour, Laura, Leather, Richard, Seifer, Colette, Fournier, Anne, Atallah, Joseph, Kimber, Shane, Makanjee, Bhavanesh, Alqarawi, Wael, Cadrin-Tourigny, Julia, Joza, Jacqueline, Gibbs, Karen, Robb, Laura, Zahavich, Laura, Gardner, Martin, Talajic, Mario, Virani, Alice, Krahn, Andrew D., Lehman, Anna, Laksman, Zachary W.M.

Source: Canadian journal of cardiology. 38(4):526-535

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100177992425.0x000001&indx=1&recIds=ETOCvdc_100177992425.0x000001

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?

Authors: Gazzaz, Nour, Frost, F. Graeme, Alderman, Emily, Richmond, Phillip A., Dalmann, Joshua, Lin, Susan, Salman, Areesha, Del Bel, Kate L., Lehman, Anna, Turvey, Stuart E., Boerkoel, Cornelius F., Cherukuri, Praveen F.

Source: American journal of medical genetics.Part A. 188(10):3089-3095

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100166440841.0x000001&indx=1&recIds=ETOCvdc_100166440841.0x000001

Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines

Authors: Cornthwaite, Melissa, Turner, Kelly, Armstrong, Linlea, Boerkoel, Cornelius F., Chang, Caitlin, Lehman, Anna, Nikkel, Sarah M., Patel, Millan S., Van Allen, Margot, Langlois, Sylvie

Source: Prenatal diagnosis. 42(12):1514-1524

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165168322.0x000001&indx=1&recIds=ETOCvdc_100165168322.0x000001

Novel CIC variants identified in individuals with neurodevelopmental phenotypes

Authors: Sharma, Saloni, Hourigan, Brenna, Patel, Zain, Rosenfeld, Jill A., Chan, Katie M., Wangler, Michael F., Yi, Joanna S., Lehman, Anna, Horvath, Gabriella, Cloos, Paul A., Tan, Qiumin

Source: Human mutation. 43(7):889-899

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153791542.0x000001&indx=1&recIds=ETOCvdc_100153791542.0x000001

Incidentally identified left ventricular apical aneurysm in a patient with Fabry disease

Authors: Yim, Jeffrey, Gin, Kenneth, Tsang, Teresa S. M., Luong, Christina, Lehman, Anna, Ong, Kevin, Tsang, Michael Y. C., Jue, John, Nair, Parvathy, Nasmith, Trudy, Yeung, Darwin F.

Source: Echocardiography. 39(8):1131-1137

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158974074.0x000001&indx=1&recIds=ETOCvdc_100158974074.0x000001

The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit

Authors: Candido, Tara, Christilaw, Jan, Dragojlovic, Nick, Souich, Christèle du, Elliott, Alison M., Evans, Daniel M., Farrer, Matthew J., Friedman, Jan M., Guella, Ilaria, Lehman, Anna, Lynd, Larry D., Osiovich, Horacio, Tooman, Leah, Rodriguez Llorian, Elisabet, Campbell, Teresa M.

Source: In Genetics in Medicine August 2022 24(8):1675-1683

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Authors: Elliott, Alison M., Adam, Shelin, du Souich, Christèle, Lehman, Anna, Nelson, Tanya N., van Karnebeek, Clara, Alderman, Emily, Armstrong, Linlea, Aubertin, Gudrun, Blood, Katherine, Boelman, Cyrus, Boerkoel, Cornelius, Bretherick, Karla, Brown, Lindsay, Chijiwa, Chieko, Clarke, Lorne, Couse, Madeline, Creighton, Susan, Watts-Dickens, Abby, Gibson, William T., Gill, Harinder, Tarailo-Graovac, Maja, Hamilton, Sara, Heran, Harindar, Horvath, Gabriella, Huang, Lijia, Hulait, Gurdip K., Koehn, David, Lee, Hyun Kyung, Lewis, Suzanne, Lopez, Elena, Louie, Kristal, Niederhoffer, Karen, Matthews, Allison, Meagher, Kirsten, Peng, Junran J., Patel, Millan S., Race, Simone, Richmond, Phillip, Rupps, Rosemarie, Salvarinova, Ramona, Seath, Kimberly, Selby, Kathryn, Steinraths, Michelle, Stockler, Sylvia, Tang, Kaoru, Tyson, Christine, van Allen, Margot, Wasserman, Wyeth, Mwenifumbo, Jill, Friedman, Jan M.

Source: In Human Genetics and Genomics Advances 14 July 2022 3(3)

Loss-of-function mitochondrial DNA polymerase gamma variants cause vascular smooth muscle cells to secrete a diffusible mitogenic factor.

Authors: Rothwell, Samantha, Ng, Irvin, Shalchy-Tabrizi, Sophia, Kalinowski, Pola, Taha, Omnia M., Paris, Italia, Baniqued, Angelica, Lin, Lisa, Mezei, Michelle M., Lehman, Anna, Julian, Lisa M., Poburko, Damon

Source: Frontiers in Physiology; 2025, p1-21, 21p

Subject Terms: VASCULAR smooth muscle, VASCULAR remodeling, MITOCHONDRIAL DNA, DNA polymerases, HELA cells

Diabetes Associated With Maternally Inherited Diabetes and Deafness (MIDD): From Pathogenic Variant to Phenotype.

Authors: Chanoine, Jean-Pierre, Thompson, David M., Lehman, Anna

Source: Diabetes; Feb2025, Vol. 74 Issue 2, p153-163, 11p

Subject Terms: MITOCHONDRIAL DNA, KREBS cycle, HEARING disorders, MITOCHONDRIAL pathology, INSULIN resistance, OXIDATIVE phosphorylation