Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases

Authors: Alstrup, Morten, Cesca, Fabrizia, Krawczun-Rygmaczewska, Alicja, López-Menéndez, Celia, Pose-Utrilla, Julia, Castberg, Filip Christian, Bjerager, Mia Ortved, Finnila, Candice, Kruer, Michael C., Bakhtiari, Somayeh, Padilla-Lopez, Sergio, Manwaring, Linda, Keren, Boris, Afenjar, Alexandra, Galatolo, Daniele, Scalise, Roberta, Santorelli, Fillippo M., Shillington, Amelle, Vezain, Myriam, Martinovic, Jelena, Stevens, Cathy, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Thiffault, Isabelle, Pastinen, Tomi, Baranano, Kristin, Lee, Angela, Granadillo, Jorge, Glassford, Megan R., Keegan, Catherine E., Matthews, Nicole, Saugier-Veber, Pascale, Iglesias, Teresa, Østergaard, Elsebet

Source: In Genetics in Medicine November 2024 26(11)

Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations

Authors: Cohen, Ana S.A., Berrios, Courtney D., Zion, Tricia N., Barrett, Cassandra M., Moore, Riley, Boillat, Emelia, Belden, Bradley, Farrow, Emily G., Thiffault, Isabelle, Zuccarelli, Britton D., Pastinen, Tomi

Source: In The American Journal of Human Genetics 2 May 2024 111(5):825-832

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Authors: Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., Carvill, Gemma L.

Source: In The American Journal of Human Genetics 4 January 2024 111(1):96-118

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Authors: Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien, Bruel, Ange-Line, Thauvin-Robinet, Christel, Popp, Denny, Platzer, Konrad, Gawlinski, Pawel, Wiszniewski, Wojciech, Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Gailus-Durner, Valerie, Guerrini, Renzo, Fuchs, Helmut, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, Lupski, James R.

Source: American journal of human genetics. 110(8):1394-1413

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194894532.0x000001&indx=1&recIds=ETOCvdc_100194894532.0x000001

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

Authors: Chen, Xiao, Harting, John, Farrow, Emily, Thiffault, Isabelle, Kasperaviciute, Dalia, Hoischen, Alexander, Gilissen, Christian, Pastinen, Tomi, Eberle, Michael A.

Source: American journal of human genetics. 110(2):240-250

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184347619.0x000001&indx=1&recIds=ETOCvdc_100184347619.0x000001

Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment

Authors: Kane, Natalie J., Cohen, Ana S.A., Berrios, Courtney, Jones, Bridgette, Pastinen, Tomi, Hoffman, Mark A.

Source: In Genetics in Medicine September 2023 25(9)

Genome graphs detect human polymorphisms in active epigenomic state during influenza infection

Authors: Groza, Cristian, Chen, Xun, Pacis, Alain, Simon, Marie-Michelle, Pramatarova, Albena, Aracena, Katherine A., Pastinen, Tomi, Barreiro, Luis B., Bourque, Guillaume

Source: In Cell Genomics 10 May 2023 3(5)

Transposable elements are associated with the variable response to influenza infection

Authors: Chen, Xun, Pacis, Alain, Aracena, Katherine A., Gona, Saideep, Kwan, Tony, Groza, Cristian, Lin, Yen Lung, Sindeaux, Renata, Yotova, Vania, Pramatarova, Albena, Simon, Marie-Michelle, Pastinen, Tomi, Barreiro, Luis B., Bourque, Guillaume

Source: In Cell Genomics 10 May 2023 3(5)

Insurance denials and diagnostic rates in a pediatric genomic research cohort

Authors: Zion, Tricia N., Berrios, Courtney D., Cohen, Ana S.A., Bartik, Lauren, Cross, Laura A., Engleman, Kendra L., Fleming, Emily A., Gadea, Randi N., Hughes, Susan S., Jenkins, Janda L., Kussmann, Jennifer, Lawson, Caitlin, Schwager, Caitlin, Strenk, Meghan E., Welsh, Holly, Rush, Eric T., Amudhavalli, Shivarajan M., Sullivan, Bonnie R., Zhou, Dihong, Gannon, Jennifer L., Heese, Bryce A., Moore, Riley, Boillat, Emelia, Biswell, Rebecca L., Louiselle, Daniel A., Puckett, Laura M.B., Beyer, Shanna, Neal, Shelby H., Sierant, Victoria, McBeth, Macy, Belden, Bradley, Walter, Adam M., Gibson, Margaret, Cheung, Warren A., Johnston, Jeffrey J., Thiffault, Isabelle, Farrow, Emily G., Grundberg, Elin, Pastinen, Tomi

Source: In Genetics in Medicine May 2023 25(5)

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.

Authors: Chen, Xiao, Baker, Daniel, Dolzhenko, Egor, Devaney, Joseph M., Noya, Jessica, Berlyoung, April S., Brandon, Rhonda, Hruska, Kathleen S., Lochovsky, Lucas, Kruszka, Paul, Newman, Scott, Farrow, Emily, Thiffault, Isabelle, Pastinen, Tomi, Kasperaviciute, Dalia, Gilissen, Christian, Vissers, Lisenka, Hoischen, Alexander, Berger, Seth, Vilain, Eric

Source: Nature Communications; 3/8/2025, Vol. 16 Issue 1, p1-13, 13p

Black community member perceptions and ethics recommendations on epigenomic research.

Authors: Berrios, Courtney, Basey, Tammy, Bradley-Ewing, Andrea, Daniels-Young, Stacey, Lewis, Daysha, Feldman, Keith, Moffatt, Mary E., Pastinen, Tomi, Grundberg, Elin

Source: Clinical Epigenetics; 2/22/2025, Vol. 17 Issue 1, p1-16, 16p

Subject Terms: MEDICAL mistrust, SOCIOECONOMIC disparities in health, COMMUNITY attitudes, SOCIAL attitudes, MEDICAL ethics

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Authors: Cohen, Ana S.A., Farrow, Emily G., Abdelmoity, Ahmed T., Alaimo, Joseph T., Amudhavalli, Shivarajan M., Anderson, John T., Bansal, Lalit, Bartik, Lauren, Baybayan, Primo, Belden, Bradley, Berrios, Courtney D., Biswell, Rebecca L., Buczkowicz, Pawel, Buske, Orion, Chakraborty, Shreyasee, Cheung, Warren A., Coffman, Keith A., Cooper, Ashley M., Cross, Laura A., Curran, Tom, Dang, Thuy Tien T., Elfrink, Mary M., Engleman, Kendra L., Fecske, Erin D., Fieser, Cynthia, Fitzgerald, Keely, Fleming, Emily A., Gadea, Randi N., Gannon, Jennifer L., Gelineau-Morel, Rose N., Gibson, Margaret, Goldstein, Jeffrey, Grundberg, Elin, Halpin, Kelsee, Harvey, Brian S., Heese, Bryce A., Hein, Wendy, Herd, Suzanne M., Hughes, Susan S., Ilyas, Mohammed, Jacobson, Jill, Jenkins, Janda L., Jiang, Shao, Johnston, Jeffrey J., Keeler, Kathryn, Korlach, Jonas, Kussmann, Jennifer, Lambert, Christine, Lawson, Caitlin, Le Pichon, Jean-Baptiste, Leeder, James Steven, Little, Vicki C., Louiselle, Daniel A., Lypka, Michael, McDonald, Brittany D., Miller, Neil, Modrcin, Ann, Nair, Annapoorna, Neal, Shelby H., Oermann, Christopher M., Pacicca, Donna M., Pawar, Kailash, Posey, Nyshele L., Price, Nigel, Puckett, Laura M.B., Quezada, Julio F., Raje, Nikita, Rowell, William J., Rush, Eric T., Sampath, Venkatesh, Saunders, Carol J., Schwager, Caitlin, Schwend, Richard M., Shaffer, Elizabeth, Smail, Craig, Soden, Sarah, Strenk, Meghan E., Sullivan, Bonnie R., Sweeney, Brooke R., Tam-Williams, Jade B., Walter, Adam M., Welsh, Holly, Wenger, Aaron M., Willig, Laurel K., Yan, Yun, Younger, Scott T., Zhou, Dihong, Zion, Tricia N., Thiffault, Isabelle, Pastinen, Tomi

Source: In Genetics in Medicine June 2022 24(6):1336-1348

Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care

Authors: Berrios, Courtney, Hurley, Emily A., Willig, Laurel, Thiffault, Isabelle, Saunders, Carol, Pastinen, Tomi, Goggin, Kathy, Farrow, Emily

Source: In Genetics in Medicine December 2021 23(12):2289-2299

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Authors: Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V.Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R.

Source: In Genetics in Medicine October 2021 23(10):1952-1960

Structural polymorphism and diversity of human segmental duplications

Authors: Jeong, Hyeonsoo, Dishuck, Philip C., Yoo, DongAhn, Harvey, William T., Munson, Katherine M., Lewis, Alexandra P., Kordosky, Jennifer, Garcia, Gage H., Yilmaz, Feyza, Hallast, Pille, Lee, Charles, Pastinen, Tomi, Eichler, Evan E.

Source: Nature Genetics; 20250101, Issue: Preprints p1-12, 12p

A novel statistical method for modeling covariate effects in bisulfite sequencing derived measures of DNA methylation

Authors: Zhao, Kaiqiong, Oualkacha, Karim, Lakhal‐Chaieb, Lajmi, Labbe, Aurélie, Klein, Kathleen, Ciampi, Antonio, Hudson, Marie, Colmegna, Inés, Pastinen, Tomi, Zhang, Tieyuan, Daley, Denise, Greenwood, Celia M.T.

Source: Biometrics. 77(2):424-438

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122572702.0x000001&indx=1&recIds=ETOCvdc_100122572702.0x000001

Characterization and visualization of tandem repeats at genome scale.

Authors: Dolzhenko, Egor, English, Adam, Dashnow, Harriet, De Sena Brandine, Guilherme, Mokveld, Tom, Rowell, William J., Karniski, Caitlin, Kronenberg, Zev, Danzi, Matt C., Cheung, Warren A., Bi, Chengpeng, Farrow, Emily, Wenger, Aaron, Chua, Khi Pin, Martínez-Cerdeño, Verónica, Bartley, Trevor D., Jin, Peng, Nelson, David L., Zuchner, Stephan, Pastinen, Tomi

Source: Nature Biotechnology; Oct2024, Vol. 42 Issue 10, p1606-1614, 9p

Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in naïve CD4+ T cells

Authors: Madore, Anne-Marie, Pain, Lucile, Boucher-Lafleur, Anne-Marie, Morin, Andréanne, Meloche, Jolyane, Simon, Marie-Michelle, Ge, Bing, Kwan, Tony, Cheung, Warren A., Pastinen, Tomi, Laprise, Catherine

Source: Journal of genetics and genomics. 47(3):171-174

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114354051.0x000001&indx=1&recIds=ETOCvdc_100114354051.0x000001

A Hidden Markov Model for Identifying Differentially Methylated Sites in Bisulfite Sequencing Data

Authors: Shokoohi, Farhad, Stephens, David A., Bourque, Guillaume, Pastinen, Tomi, Greenwood, Celia M. T., Labbe, Aurélie

Source: Biometrics, 2019 Mar 01. 75(1), 210-221.

Access URL: https://www.jstor.org/stable/45212822

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.

Authors: Smail, Craig, Ge, Bing, Keever-Keigher, Marissa R., Schwendinger-Schreck, Carl, Cheung, Warren A., Johnston, Jeffrey J., Barrett, Cassandra, Feldman, Keith, Cohen, Ana S. A., Farrow, Emily G., Thiffault, Isabelle, Grundberg, Elin, Pastinen, Tomi

Source: Nature Communications; 9/18/2024, Vol. 15 Issue 1, p1-11, 11p

Subject Terms: RARE diseases, GENETIC disorders, BLOOD proteins, GENETIC variation, SYMPTOMS