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237 results on '"Wentzensen, A."'

1. Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs

Author: Qi, Michelle, primary, Naranjo, Anissa R., additional, Duque, Abigail J., additional, Lorey, Thomas S., additional, Schapiro, Jeffrey M., additional, Suh-Burgmann, Betty J., additional, Rummel, Michael, additional, Salipante, Stephen J., additional, Wentzensen, Nicolas, additional, and Greene, Dina N., additional
Published: 2024
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2. De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

Author: Mullegama, Sureni V., primary, Kiernan, Kaitlyn A., additional, Torti, Erin, additional, Pavlovsky, Ethan, additional, Tilton, Nicholas, additional, Sekula, Austin, additional, Gao, Hua, additional, Alaimo, Joseph T., additional, Engleman, Kendra, additional, Rush, Eric T., additional, Blocker, Karli, additional, Dipple, Katrina M., additional, Fettig, Veronica M., additional, Hare, Heather, additional, Glass, Ian, additional, Grange, Dorothy K., additional, Griffin, Michael, additional, Phornphutkul, Chanika, additional, Massingham, Lauren, additional, Mehta, Lakshmi, additional, Miller, Danny E., additional, Thies, Jenny, additional, Merritt, J Lawrence, additional, Muller, Eric, additional, Osmond, Matthew, additional, Sawyer, Sarah L., additional, Slaugh, Rachel, additional, Hickey, Rachel E., additional, Wolf, Barry, additional, Choudhary, Sanjeev, additional, Simonović, Miljan, additional, Zhang, Yueqing, additional, Palculict, Timothy Blake, additional, Telegrafi, Aida, additional, Carere, Deanna Alexis, additional, Wentzensen, Ingrid M., additional, Morrow, Michelle M., additional, Monaghan, Kristin G., additional, Juusola, Jane, additional, and Yang, Jun, additional
Published: 2024
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3. Calendar-period trends in cervical precancer and cancer diagnoses since the introduction of human papillomavirus and cytology co-testing into routine cervical cancer screening at Kaiser Permanente Northern California

Author: Befano, Brian, primary, Wentzensen, Nicolas, additional, Lorey, Thomas, additional, Poitras, Nancy, additional, Cheung, Li C., additional, Schiffman, Mark, additional, Clarke, Megan A., additional, Cohen, Camryn, additional, Kinney, Walter, additional, Locke, Alex, additional, and Castle, Philip E., additional
Published: 2024
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4. Ipvs Statement on Hpv Vaccination: No Longer Supply Constraints

Author: Garland, Suzanne Marie, primary, Bhatla, Neerja, additional, Woo, Yin Ling, additional, Stanley, Margaret, additional, Kaufmann, Andreas, additional, Brotherton, Julia, additional, Moscicki, Anna-Barbara, additional, Giuliano, Anna, additional, Chan, Karen L., additional, Feldman, Sarah, additional, Wentzensen, Nicolas, additional, and Chatzistamatiou, Kimon, additional
Published: 2024
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5. Role of CAMK2D in neurodevelopment and associated conditions

Author: Rigter, Pomme M.F., primary, de Konink, Charlotte, additional, Dunn, Matthew J., additional, Proietti Onori, Martina, additional, Humberson, Jennifer B., additional, Thomas, Matthew, additional, Barnes, Caitlin, additional, Prada, Carlos E., additional, Weaver, K. Nicole, additional, Ryan, Thomas D., additional, Caluseriu, Oana, additional, Conway, Jennifer, additional, Calamaro, Emily, additional, Fong, Chin-To, additional, Wuyts, Wim, additional, Meuwissen, Marije, additional, Hordijk, Eva, additional, Jonkers, Carsten N., additional, Anderson, Lucas, additional, Yuseinova, Berfin, additional, Polonia, Sarah, additional, Beysen, Diane, additional, Stark, Zornitza, additional, Savva, Elena, additional, Poulton, Cathryn, additional, McKenzie, Fiona, additional, Bhoj, Elizabeth, additional, Bupp, Caleb P., additional, Bézieau, Stéphane, additional, Mercier, Sandra, additional, Blevins, Amy, additional, Wentzensen, Ingrid M., additional, Xia, Fan, additional, Rosenfeld, Jill A., additional, Hsieh, Tzung-Chien, additional, Krawitz, Peter M., additional, Elbracht, Miriam, additional, Veenma, Danielle C.M., additional, Schulman, Howard, additional, Stratton, Margaret M., additional, Küry, Sébastien, additional, and van Woerden, Geeske M., additional
Published: 2024
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6. Night shift work, sleep duration and endometrial cancer risk: A pooled analysis from the Epidemiology of Endometrial Cancer Consortium (E2C2)

Author: Frias-Gomez, Jon, primary, Alemany, Laia, additional, Benavente, Yolanda, additional, Clarke, Megan A., additional, de Francisco, Javier, additional, De Vivo, Immaculata, additional, Du, Mengmeng, additional, Goodman, Marc T., additional, Lacey, James, additional, Liao, Linda M., additional, Lipworth, Loren, additional, Lu, Lingeng, additional, Merritt, Melissa A., additional, Michels, Kara A., additional, O'Connell, Kelli, additional, Paytubi, Sonia, additional, Pelegrina, Beatriz, additional, Peremiquel-Trillas, Paula, additional, Petruzella, Stacey, additional, Ponce, Jordi, additional, Risch, Harvey, additional, Setiawan, Veronica Wendy, additional, Schouten, Leo J., additional, Shu, Xiao-ou, additional, Trabert, Britton, additional, Van den Brandt, Piet A., additional, Wentzensen, Nicolas, additional, Wilkens, Lynne R., additional, Yu, Herbert, additional, and Costas, Laura, additional
Published: 2023
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7. Detection of endometrial cancer using tampon-based collection and methylated DNA markers

Author: Jamie N. Bakkum-Gamez, Mark E. Sherman, Seth W. Slettedahl, Douglas W. Mahoney, Maureen A. Lemens, Shannon K. Laughlin-Tommaso, Matthew R. Hopkins, Ann VanOosten, Viji Shridhar, Julie K. Staub, Xiaoming Cao, Patrick H. Foote, Megan A. Clarke, Kelli N. Burger, Calise K. Berger, Maria C. O'Connell, Karen A. Doering, Karl C. Podratz, Christopher C. DeStephano, J. Kenneth Schoolmeester, Sarah E. Kerr, Nicolas Wentzensen, William R. Taylor, and John B. Kisiel
Subjects: Oncology, Obstetrics and Gynecology
Published: 2023

8. De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

Author: Ahmad, Natalie, primary, Fazeli, Walid, additional, Schließke, Sophia, additional, Lesca, Gaetan, additional, Gokce-Samar, Zeynep, additional, Mekbib, Kedous Y., additional, Jin, Sheng Chih, additional, Burton, Jennifer, additional, Hoganson, George, additional, Petersen, Andrea, additional, Gracie, Sara, additional, Granger, Leslie, additional, Bartels, Enrika, additional, Oppermann, Henry, additional, Kundishora, Adam, additional, Till, Marianne, additional, Milleret-Pignot, Clara, additional, Dangerfield, Shane, additional, Viskochil, David, additional, Anderson, Katherine J., additional, Palculict, Timothy Blake, additional, Schnur, Rhonda E., additional, Wentzensen, Ingrid M., additional, Tiller, George E., additional, Kahle, Kristopher T., additional, Kunz, Wolfram S., additional, Burkart, Sebastian, additional, Simons, Matias, additional, Sticht, Heinrich, additional, Abou Jamra, Rami, additional, and Neuser, Sonja, additional
Published: 2023
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9. Detection of endometrial cancer using tampon-based collection and methylated DNA markers

Author: Bakkum-Gamez, Jamie N., primary, Sherman, Mark E., additional, Slettedahl, Seth W., additional, Mahoney, Douglas W., additional, Lemens, Maureen A., additional, Laughlin-Tommaso, Shannon K., additional, Hopkins, Matthew R., additional, VanOosten, Ann, additional, Shridhar, Viji, additional, Staub, Julie K., additional, Cao, Xiaoming, additional, Foote, Patrick H., additional, Clarke, Megan A., additional, Burger, Kelli N., additional, Berger, Calise K., additional, O'Connell, Maria C., additional, Doering, Karen A., additional, Podratz, Karl C., additional, DeStephano, Christopher C., additional, Schoolmeester, J. Kenneth, additional, Kerr, Sarah E., additional, Wentzensen, Nicolas, additional, Taylor, William R., additional, and Kisiel, John B., additional
Published: 2023
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10. The combined finding of HPV 16, 18, or 45 and cytologic Atypical Glandular Cells (AGC) indicates a greatly elevated risk of in situ and invasive cervical adenocarcinoma

Author: Schiffman, Mark, primary, Mirabello, Lisa, additional, Egemen, Didem, additional, Befano, Brian, additional, Xiao, Yanzi, additional, Wentzensen, Nicolas, additional, Raine-Bennett, Tina, additional, Nayar, Ritu, additional, Cheung, Li C., additional, Rositch, Anne, additional, Beaty, Terri, additional, Perkins, Rebecca B., additional, de Sanjose, Silvia, additional, Lorey, Thomas, additional, Castle, Philip E., additional, and Burk, Robert D., additional
Published: 2023
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11. Use of risk-based cervical screening programs in resource-limited settings

Author: Perkins, Rebecca B., primary, Smith, Debi L., additional, Jeronimo, Jose, additional, Campos, Nicole G., additional, Gage, Julia C., additional, Hansen, Natasha, additional, Rodriguez, Ana Cecilia, additional, Cheung, Li C., additional, Egemen, Didem, additional, Befano, Brian, additional, Novetsky, Akiva P, additional, Martins, Sandro, additional, Kalpathy-Cramer, Jayashree, additional, Inturrisi, Federica, additional, Ahmed, Syed Rakin, additional, Marcus, Jenna, additional, Wentzensen, Nicolas, additional, de Sanjose, Silvia, additional, and Schiffman, Mark, additional
Published: 2023
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12. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Author: Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jérôme Govin, Bart Dermaut, Antonio Vitobello, Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yanni, Leblanc, Pontu, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, Mcconkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, and Vitobello, Antonio
Subjects: SRSF1, splicing, epigenetic signature, Medicine and Health Sciences, Genetics, Drosophila, neurodevelopmental disorder, Genetics (clinical), haploinsufficiency
Abstract: SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of this proto-oncogene in mice is embryonically lethal. Through international data sharing, we identified 17 individuals (10 females and 7 males) with a neurodevelopmental disorder (NDD) with heterozygous germline SRSF1 variants, mostly de novo, including three frameshift variants, three nonsense variants, seven missense variants, and two microdeletions within region 17q22 encompassing SRSF1. Only in one family, the de novo origin could not be established. All individuals featured a recurrent phenotype including developmental delay and intellectual disability (DD/ID), hypotonia, neurobehavioral problems, with variable skeletal (66.7%) and cardiac (46%) anomalies. To investigate the functional consequences of SRSF1 variants, we performed in silico structural modeling, developed an in vivo splicing assay in Drosophila, and carried out episignature analysis in blood-derived DNA from affected individuals. We found that all loss-of-function and 5 out of 7 missense variants were pathogenic, leading to a loss of SRSF1 splicing activity in Drosophila, correlating with a detectable and specific DNA methylation episignature. In addition, our orthogonal in silico, in vivo, and epigenetics analyses enabled the separation of clearly pathogenic missense variants from those with uncertain significance. Overall, these results indicated that haploinsufficiency of SRSF1 is responsible for a syndromic NDD with ID due to a partial loss of SRSF1-mediated splicing activity.
Published: 2023

13. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Author: Bogaert, Elke, primary, Garde, Aurore, additional, Gautier, Thierry, additional, Rooney, Kathleen, additional, Duffourd, Yannis, additional, LeBlanc, Pontus, additional, van Reempts, Emma, additional, Tran Mau-Them, Frederic, additional, Wentzensen, Ingrid M., additional, Au, Kit Sing, additional, Richardson, Kate, additional, Northrup, Hope, additional, Gatinois, Vincent, additional, Geneviève, David, additional, Louie, Raymond J., additional, Lyons, Michael J., additional, Laulund, Lone Walentin, additional, Brasch-Andersen, Charlotte, additional, Maxel Juul, Trine, additional, El It, Fatima, additional, Marle, Nathalie, additional, Callier, Patrick, additional, Relator, Raissa, additional, Haghshenas, Sadegheh, additional, McConkey, Haley, additional, Kerkhof, Jennifer, additional, Cesario, Claudia, additional, Novelli, Antonio, additional, Brunetti-Pierri, Nicola, additional, Pinelli, Michele, additional, Pennamen, Perrine, additional, Naudion, Sophie, additional, Legendre, Marine, additional, Courdier, Cécile, additional, Trimouille, Aurelien, additional, Fenzy, Martine Doco, additional, Pais, Lynn, additional, Yeung, Alison, additional, Nugent, Kimberly, additional, Roeder, Elizabeth R., additional, Mitani, Tadahiro, additional, Posey, Jennifer E., additional, Calame, Daniel, additional, Yonath, Hagith, additional, Rosenfeld, Jill A., additional, Musante, Luciana, additional, Faletra, Flavio, additional, Montanari, Francesca, additional, Sartor, Giovanna, additional, Vancini, Alessandra, additional, Seri, Marco, additional, Besmond, Claude, additional, Poirier, Karine, additional, Hubert, Laurence, additional, Hemelsoet, Dimitri, additional, Munnich, Arnold, additional, Lupski, James R., additional, Philippe, Christophe, additional, Thauvin-Robinet, Christel, additional, Faivre, Laurence, additional, Sadikovic, Bekim, additional, Govin, Jérôme, additional, Dermaut, Bart, additional, and Vitobello, Antonio, additional
Published: 2023
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14. P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*

Author: Boone, Philip, primary, Faour, Kamli, additional, Mohajeri, Kiana, additional, Lemanski, John, additional, Jana, Bimal, additional, Fu, Jack, additional, Kerkhof, Jennifer, additional, McConkey, Haley, additional, Collins, Ryan, additional, Lucente, Diane, additional, de Esch, Celine, additional, Moysés-Oliveira, Mariana, additional, Nuttle, Alexander, additional, Domingo, Aloysius, additional, Erdin, Serkan, additional, Hanley, Maris, additional, Watt, Amy, additional, Surette, Eric, additional, Lima, Gloria, additional, Smith, Laura, additional, Salani, Monica, additional, Yadav, Rachita, additional, Harripaul, Ricardo, additional, O’Keefe, Kathryn, additional, Burt, Nicholas, additional, Larson, Matthew, additional, Bhavsar, Riya, additional, Currall, Benjamin, additional, Sell, Susan, additional, Ladda, Roger, additional, Immken, LaDonna, additional, Buchanan, Catherine, additional, Yuan, Bo, additional, Lynch, Sally, additional, Gilissen, Christian, additional, Pfundt, Rolph, additional, Ockeloen, Charlotte, additional, Kleefstra, Tjitske, additional, Vanhoutte, Els, additional, Sinnema, Margje, additional, Stegmann, Sander, additional, Stevens, Servi, additional, Iascone, Maria, additional, Maitz, Silvia, additional, Cogne, Benjamin, additional, Le Caignec, Cedric, additional, Vincent, Marie, additional, Nizon, Mathilde, additional, Male, Alison, additional, Agrawal, Pankaj, additional, Thompson, Michelle, additional, Torring, Pernille, additional, Brasch-Andersen, Charlotte, additional, Faivre, Laurence, additional, Bruel, Ange-Line, additional, Isidor, Bertrand, additional, Philippe, Christophe, additional, Morleo, Manuela, additional, Wojcik, Monica, additional, Genetti, Casie, additional, Srivastava, Siddharth, additional, Ballal, Sonia, additional, Schließke, Sophia, additional, Jamra, Rami Abou, additional, Delahaye, Andree, additional, von Wintzingerode, Lydia, additional, Bothe, Viktoria, additional, Houlier, Marine, additional, Stout, Timothy, additional, Bergant, Gaber, additional, Peterlin, Borut, additional, Moldovan, Oana, additional, Martínez-Gil, Núria, additional, Argilli, Emanuela, additional, Sherr, Elliott, additional, Harel, Tamar, additional, Rosenberg-Fogler, Hallel, additional, Rosenfeld, Jill, additional, Wentzensen, Ingrid, additional, Westphal, Dominik, additional, Riedhammer, Korbinian, additional, Orec, Laura, additional, Gusella, James, additional, Sadikovic, Bekim, additional, Tai, Derek, additional, and Talkowski, Michael, additional
Published: 2023
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15. Comparison of Triage Strategies Combining Extensive Genotyping with Cytology or p16/ki67 in the Italian NTCC2 Study

Author: Benevolo, Maria, primary, Ronco, Guglielmo, additional, Mancuso, Pamela, additional, Carozzi, Francesca, additional, De Marco, Laura, additional, Allia, Elena, additional, Bisanzi, Simonetta, additional, Rizzolo, Raffaella, additional, Gustinucci, Daniela, additional, Del Mistro, Annarosa, additional, Frayle, Helena, additional, Confortini, Massimo, additional, Viti, Jessica, additional, Iossa, Anna, additional, Cesarini, Elena, additional, Bulletti, Simonetta, additional, Passamonti, Basilio, additional, Gori, Silvia, additional, Toniolo, Laura, additional, Bonvicini, Laura, additional, Venturelli, Francesco, additional, Wentzensen, Nicolas, additional, Rossi, Paolo Giorgi, additional, and Group, anon, additional
Published: 2023
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16. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Author: Rory J. Olson, Jane Juusola, Mark Flage, Carlos E. Prada, Srikar Kuppa, Gustavo Adolfo Contreras-García, Camilo A. Peñaloza-Mantilla, Maria J. Guillen Sacoto, Gail E. Graham, Lindsay Rhodes, James Liu, Pavel N. Pichurin, Michael Marble, Regina M. Zambrano, Wendy K. Chung, Parul Jayakar, Matthew J. Schultz, Mary Ella M Pierpont, Karina A. Campo-Neira, Matthew Osmond, Ingrid M. Wentzensen, Sairah Yousaf, Robert B. Hufnagel, Rhonda E. Schnur, Nara Sobreira, Maria I. Scarano, and Karina Navarro
Subjects: 0301 basic medicine, Microcephaly, Ectrodactyly, Limb Deformities, Congenital, Ubiquitin-Activating Enzymes, 030105 genetics & heredity, Microphthalmia, Article, Aplasia cutis congenita, 03 medical and health sciences, Ectodermal Dysplasia, medicine, Animals, Humans, Missense mutation, Abnormalities, Multiple, Zebrafish, Genetics (clinical), Exome sequencing, Loss function, Genetics, biology, medicine.disease, biology.organism_classification, 030104 developmental biology, medicine.symptom
Abstract: Purpose: The human chromosome 19q13.11 deletion syndrome is associated with a variable phenotype that includes aplasia cutis congenita (ACC) and ectrodactyly as specific features. UBA2 (ubiquitin-like modifier-activating enzyme 2) lies adjacent to the minimal deletion overlap region. We aim to define the UBA2-related phenotypic spectrum in humans and zebrafish due to sequence variants and to establish the mechanism of disease. Methods: Exome Sequencing was used to detect UBA2 sequence variants in 16 subjects in 7 unrelated families. uba2 loss-of-function was modeled in zebrafish. Effects of human missense variants were assessed in zebrafish rescue experiments. Results: 7 human UBA2 loss-of-function and missense sequence variants were detected. UBA2-phenotypes included ACC, ectrodactyly, neurodevelopmental abnormalities, ectodermal, skeletal, craniofacial, cardiac, renal, and genital anomalies. uba2 was expressed in zebrafish eye, brain, and pectoral fins; uba2-null fish showed deficient growth, microcephaly, microphthalmia, mandibular hypoplasia, and abnormal fins. uba2-mRNAs with human missense variants failed to rescue nullizygous zebrafish phenotypes. Conclusion: UBA2 variants cause a recognizable syndrome with a wide phenotypic spectrum. Our data suggest that loss of UBA2 function underlies the human UBA2 monogenic disorder and highlights the importance of SUMOylation in the development of affected tissues.
Published: 2021

17. Coffee consumption and risk of endometrial cancer: a pooled analysis of individual participant data in the Epidemiology of Endometrial Cancer Consortium (E2C2)

Author: Crous-Bou, Marta, primary, Du, Mengmeng, additional, Gunter, Marc J, additional, Setiawan, Veronica W, additional, Schouten, Leo J, additional, Shu, Xiao-ou, additional, Wentzensen, Nicolas, additional, Bertrand, Kimberly A, additional, Cook, Linda S, additional, Friedenreich, Christine M, additional, Gapstur, Susan M, additional, Goodman, Marc T, additional, Ibiebele, Torukiri I, additional, La Vecchia, Carlo, additional, Levi, Fabio, additional, Liao, Linda M, additional, Negri, Eva, additional, McCann, Susan E, additional, O’Connell, Kelly, additional, Palmer, Julie R, additional, Patel, Alpa V, additional, Ponte, Jeanette, additional, Reynolds, Peggy, additional, Sacerdote, Carlotta, additional, Sinha, Rashmi, additional, Spurdle, Amanda B, additional, Trabert, Britton, additional, van den Brandt, Piet A, additional, Webb, Penelope M, additional, Petruzella, Stacey, additional, Olson, Sara H, additional, and De Vivo, Immaculata, additional
Published: 2022
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18. HPV mRNA testing in cervical cancer screening – Authors' reply

Author: Arbyn, Marc, primary, Canfell, Karen, additional, Poljak, Mario, additional, Berkhof, Johannes, additional, de Sanjosé, Silvia, additional, and Wentzensen, Nicolas, additional
Published: 2022
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19. Trends and predictors of hysterectomy prevalence among women in the United States

Author: Harvey, Summer V., primary, Pfeiffer, Ruth M., additional, Landy, Rebecca, additional, Wentzensen, Nicolas, additional, and Clarke, Megan A., additional
Published: 2022
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20. Dietary omega-3 fatty acids and endometrial cancer risk in the Epidemiology of Endometrial Cancer Consortium: An individual-participant meta-analysis

Author: Brasky, Theodore M., primary, Hade, Erinn M., additional, Cohn, David E., additional, Newton, Alison M., additional, Petruzella, Stacey, additional, O'Connell, Kelli, additional, Bertrand, Kimberly A., additional, Cook, Linda S., additional, De Vivo, Immaculata, additional, Du, Mengmeng, additional, Freudenheim, Jo L., additional, Friedenreich, Christine M., additional, Goodman, Marc T., additional, Gorzelitz, Jessica, additional, Ibiebele, Torukiri I., additional, Krogh, Vittorio, additional, Liao, Linda M., additional, Lipworth, Loren, additional, Lu, Lingeng, additional, McCann, Susan, additional, O'Mara, Tracy A., additional, Palmer, Julie R., additional, Ponte, Jeanette, additional, Prizment, Anna, additional, Risch, Harvey, additional, Sandin, Sven, additional, Schouten, Leo J., additional, Setiawan, Veronica Wendy, additional, Shu, Xiao-ou, additional, Trabert, Britton, additional, van den Brandt, Piet A., additional, Webb, Penelope M., additional, Wentzensen, Nicolas, additional, Wilkens, Lynne R., additional, Wolk, Alicja, additional, Yu, Herbert, additional, and Neuhouser, Marian L., additional
Published: 2022
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21. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Author: Holtz, Alexander M., primary, VanCoillie, Rachel, additional, Vansickle, Elizabeth A., additional, Carere, Deanna Alexis, additional, Withrow, Kara, additional, Torti, Erin, additional, Juusola, Jane, additional, Millan, Francisca, additional, Person, Richard, additional, Guillen Sacoto, Maria J., additional, Si, Yue, additional, Wentzensen, Ingrid M., additional, Pugh, Jada, additional, Vasileiou, Georgia, additional, Rieger, Melissa, additional, Reis, André, additional, Argilli, Emanuela, additional, Sherr, Elliott H., additional, Aldinger, Kimberly A., additional, Dobyns, William B., additional, Brunet, Theresa, additional, Hoefele, Julia, additional, Wagner, Matias, additional, Haber, Benjamin, additional, Kotzaeridou, Urania, additional, Keren, Boris, additional, Heron, Delphine, additional, Mignot, Cyril, additional, Heide, Solveig, additional, Courtin, Thomas, additional, Buratti, Julien, additional, Murugasen, Serini, additional, Donald, Kirsten A., additional, O’Heir, Emily, additional, Moody, Shade, additional, Kim, Katherine H., additional, Burton, Barbara K., additional, Yoon, Grace, additional, Campo, Miguel del, additional, Masser-Frye, Diane, additional, Kozenko, Mariya, additional, Parkinson, Christina, additional, Sell, Susan L., additional, Gordon, Patricia L., additional, Prokop, Jeremy W., additional, Karaa, Amel, additional, Bupp, Caleb, additional, and Raby, Benjamin A., additional
Published: 2022
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22. A comparison of high-grade cervical abnormality risks in women living with and without human immunodeficiency virus undergoing routine cervical-cancer screening

Author: Castle, Philip E., primary, Befano, Brian, additional, Schiffman, Mark, additional, Wentzensen, Nicolas, additional, Lorey, Thomas, additional, Poitras, Nancy, additional, Hyer, Marianne, additional, and Cheung, Li C., additional
Published: 2022
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23. Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Author: Küry, Sébastien, primary, Zhang, Jinwei, additional, Besnard, Thomas, additional, Caro-Llopis, Alfonso, additional, Zeng, Xue, additional, Robert, Stephanie M., additional, Josiah, Sunday S., additional, Kiziltug, Emre, additional, Denommé-Pichon, Anne-Sophie, additional, Cogné, Benjamin, additional, Kundishora, Adam J., additional, Hao, Le T., additional, Li, Hong, additional, Stevenson, Roger E., additional, Louie, Raymond J., additional, Deb, Wallid, additional, Torti, Erin, additional, Vignard, Virginie, additional, McWalter, Kirsty, additional, Raymond, F. Lucy, additional, Rajabi, Farrah, additional, Ranza, Emmanuelle, additional, Grozeva, Detelina, additional, Coury, Stephanie A., additional, Blanc, Xavier, additional, Brischoux-Boucher, Elise, additional, Keren, Boris, additional, Õunap, Katrin, additional, Reinson, Karit, additional, Ilves, Pilvi, additional, Wentzensen, Ingrid M., additional, Barr, Eileen E., additional, Guihard, Solveig Heide, additional, Charles, Perrine, additional, Seaby, Eleanor G., additional, Monaghan, Kristin G., additional, Rio, Marlène, additional, van Bever, Yolande, additional, van Slegtenhorst, Marjon, additional, Chung, Wendy K., additional, Wilson, Ashley, additional, Quinquis, Delphine, additional, Bréhéret, Flora, additional, Retterer, Kyle, additional, Lindenbaum, Pierre, additional, Scalais, Emmanuel, additional, Rhodes, Lindsay, additional, Stouffs, Katrien, additional, Pereira, Elaine M., additional, Berger, Sara M., additional, Milla, Sarah S., additional, Jaykumar, Ankita B., additional, Cobb, Melanie H., additional, Panchagnula, Shreyas, additional, Duy, Phan Q., additional, Vincent, Marie, additional, Mercier, Sandra, additional, Gilbert-Dussardier, Brigitte, additional, Le Guillou, Xavier, additional, Audebert-Bellanger, Séverine, additional, Odent, Sylvie, additional, Schmitt, Sébastien, additional, Boisseau, Pierre, additional, Bonneau, Dominique, additional, Toutain, Annick, additional, Colin, Estelle, additional, Pasquier, Laurent, additional, Redon, Richard, additional, Bouman, Arjan, additional, Rosenfeld, Jill. A., additional, Friez, Michael J., additional, Pérez-Peña, Helena, additional, Akhtar Rizvi, Syed Raza, additional, Haider, Shozeb, additional, Antonarakis, Stylianos E., additional, Schwartz, Charles E., additional, Martínez, Francisco, additional, Bézieau, Stéphane, additional, Kahle, Kristopher T., additional, and Isidor, Bertrand, additional
Published: 2022
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24. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Author: Tugce B. Balci, Paul R. Mark, Sedlácek Z, Krista Sondergaard Schatz, Tadashi Kaname, Christiane Zweier, Hidenori Ohnishi, Ingrid M. Wentzensen, Solveig Heide, Weimin Bi, A. Baxova, Antje Wiesener, Nancy J. Cox, Devon Haynes, David Rodriguez-Buritica, Sarka Bendova, Nobuhiko Okamoto, Tomoko Uehara, Oana Caluseriu, Koichi Kawakami, Victoria Mok Siu, Alfredo Brusco, Boris Keren, Jennifer M. Lemons, David J. Amor, Patrick Rump, Marie T. McDonald, George E. Hoganson, Miroslava Hancarova, Gina M. Morley, Maria A. Magriña, Sarah Montgomery, Lei Wang, Seema R. Lalani, Kazuo Kubota, Mohammed Al-raqad, Patricia G Wheeler, Haley Streff, Fuad Chowdhury, Elisa Biamino, Meral Gunay-Aygun, Tawfiq Froukh, Kenjiro Kosaki, and Jagdeep S. Walia
Subjects: 0301 basic medicine, Haploinsufficiency/genetics, Pathology, medicine.medical_specialty, Mutation, Missense, Haploinsufficiency, 030105 genetics & heredity, Microphthalmia, Frameshift mutation, Intellectual Disability, PRR12, neurodevelopmental disorder, Mice, 03 medical and health sciences, Neurodevelopmental disorder, medicine, Animals, Humans, Missense mutation, Genetics (clinical), Anophthalmia, business.industry, medicine.disease, Intellectual Disability/genetics, Hypotonia, Phenotype, 030104 developmental biology, Mutation, Muscle Hypotonia, Missense, medicine.symptom, business, Kidney disease
Abstract: Purpose: Proline Rich 12 (PRR12) is a gene of unknown function with suspected DNA-binding activity, expressed in developing mice and human brains. Predicted loss-of-function variants in this gene are extremely rare, indicating high intolerance of haploinsufficiency. Methods: Three individuals with intellectual disability and iris anomalies and truncating de novo PRR12 variants were described previously. We add 21 individuals with similar PRR12 variants identified via matchmaking platforms, bringing the total number to 24. Results: We observed 12 frameshift, 6 nonsense, 1 splice-site, and 2 missense variants and one patient with a gross deletion involving PRR12. Three individuals had additional genetic findings, possibly confounding the phenotype. All patients had developmental impairment. Variable structural eye defects were observed in 12/24 individuals (50%) including anophthalmia, microphthalmia, colobomas, optic nerve and iris abnormalities. Additional common features included hypotonia (61%), heart defects (52%), growth failure (54%), and kidney anomalies (35%). PrediXcan analysis showed that phecodes most strongly associated with reduced predicted PRR12 expression were enriched for eye- (7/30) and kidney- (4/30) phenotypes, such as wet macular degeneration and chronic kidney disease. Conclusion: These findings support PRR12 haploinsufficiency as a cause for a novel disorder with a wide clinical spectrum marked chiefly by neurodevelopmental and eye abnormalities. Graphic Abstract: [Figure not available: see fulltext.]
Published: 2021

25. Accuracy and effectiveness of HPV mRNA testing in cervical cancer screening: a systematic review and meta-analysis

Author: Arbyn, Marc, primary, Simon, Marie, additional, de Sanjosé, Silvia, additional, Clarke, Megan A, additional, Poljak, Mario, additional, Rezhake, Remila, additional, Berkhof, Johannes, additional, Nyaga, Victoria, additional, Gultekin, Murat, additional, Canfell, Karen, additional, and Wentzensen, Nicolas, additional
Published: 2022
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26. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Author: Stephenson, Sarah E.M., primary, Costain, Gregory, additional, Blok, Laura E.R., additional, Silk, Michael A., additional, Nguyen, Thanh Binh, additional, Dong, Xiaomin, additional, Alhuzaimi, Dana E., additional, Dowling, James J., additional, Walker, Susan, additional, Amburgey, Kimberly, additional, Hayeems, Robin Z., additional, Rodan, Lance H., additional, Schwartz, Marc A., additional, Picker, Jonathan, additional, Lynch, Sally A., additional, Gupta, Aditi, additional, Rasmussen, Kristen J., additional, Schimmenti, Lisa A., additional, Klee, Eric W., additional, Niu, Zhiyv, additional, Agre, Katherine E., additional, Chilton, Ilana, additional, Chung, Wendy K., additional, Revah-Politi, Anya, additional, Au, P.Y. Billie, additional, Griffith, Christopher, additional, Racobaldo, Melissa, additional, Raas-Rothschild, Annick, additional, Ben Zeev, Bruria, additional, Barel, Ortal, additional, Moutton, Sebastien, additional, Morice-Picard, Fanny, additional, Carmignac, Virginie, additional, Cornaton, Jenny, additional, Marle, Nathalie, additional, Devinsky, Orrin, additional, Stimach, Chandler, additional, Wechsler, Stephanie Burns, additional, Hainline, Bryan E., additional, Sapp, Katie, additional, Willems, Marjolaine, additional, Bruel, Ange-line, additional, Dias, Kerith-Rae, additional, Evans, Carey-Anne, additional, Roscioli, Tony, additional, Sachdev, Rani, additional, Temple, Suzanna E.L., additional, Zhu, Ying, additional, Baker, Joshua J., additional, Scheffer, Ingrid E., additional, Gardiner, Fiona J., additional, Schneider, Amy L., additional, Muir, Alison M., additional, Mefford, Heather C., additional, Crunk, Amy, additional, Heise, Elizabeth M., additional, Millan, Francisca, additional, Monaghan, Kristin G., additional, Person, Richard, additional, Rhodes, Lindsay, additional, Richards, Sarah, additional, Wentzensen, Ingrid M., additional, Cogné, Benjamin, additional, Isidor, Bertrand, additional, Nizon, Mathilde, additional, Vincent, Marie, additional, Besnard, Thomas, additional, Piton, Amelie, additional, Marcelis, Carlo, additional, Kato, Kohji, additional, Koyama, Norihisa, additional, Ogi, Tomoo, additional, Goh, Elaine Suk-Ying, additional, Richmond, Christopher, additional, Amor, David J., additional, Boyce, Jessica O., additional, Morgan, Angela T., additional, Hildebrand, Michael S., additional, Kaspi, Antony, additional, Bahlo, Melanie, additional, Friðriksdóttir, Rún, additional, Katrínardóttir, Hildigunnur, additional, Sulem, Patrick, additional, Stefánsson, Kári, additional, Björnsson, Hans Tómas, additional, Mandelstam, Simone, additional, Morleo, Manuela, additional, Mariani, Milena, additional, Scala, Marcello, additional, Accogli, Andrea, additional, Torella, Annalaura, additional, Capra, Valeria, additional, Wallis, Mathew, additional, Jansen, Sandra, additional, Waisfisz, Quinten, additional, de Haan, Hugoline, additional, Sadedin, Simon, additional, Lim, Sze Chern, additional, White, Susan M., additional, Ascher, David B., additional, Schenck, Annette, additional, Lockhart, Paul J., additional, Christodoulou, John, additional, and Tan, Tiong Yang, additional
Published: 2022
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27. Menopausal hormone therapy prior to the diagnosis of ovarian cancer is associated with improved survival

Author: Ellen L. Goode, Diether Lambrechts, Usha Menon, Sharon E. Johnatty, Kathryn L. Terry, Kelly M. Bakulski, Mary Anne Rossing, Simon A. Gayther, Gillian E. Hanley, Dale W. Garsed, Katharine Brieger, Harvey A. Risch, Celeste Leigh Pearce, Daniel W. Cramer, Susan J. Ramus, Kathleen R. Cho, Allan Jensen, Karen McLean, Anna deFazio, Holly R. Harris, Francesmary Modugno, Anna H. Wu, Paul D.P. Pharoah, Andrew Berchuck, Aleksandra Gentry-Maharaj, Susanne K. Kjaer, Britton Trabert, David D.L. Bowtell, Renée T. Fortner, Bhramar Mukherjee, Estrid Høgdall, Alice W. Lee, Aliya Alimujiang, Elisa V. Bandera, David G. Huntsman, Malcolm C. Pike, Michael S. Anglesio, Georgia Chenevix-Trench, Hoda Anton-Culver, Kirsten B. Moysich, Roberta B. Ness, Jolanta Kupryjanczyk, Nicolas Wentzensen, Susan J. Jordan, Jean L. Richardson, Hui Shen, Jennifer A. Doherty, Argyrios Ziogas, Penelope M. Webb, Marc T. Goodman, and Siri Peterson
Subjects: 0301 basic medicine, Oncology, PROGNOSIS, Neoplasm, Residual, IMPACT, medicine.medical_treatment, DISEASE, 0302 clinical medicine, Ovarian carcinoma, RISK, Ovarian Neoplasms, Estrogen Replacement Therapy, Hazard ratio, Obstetrics & Gynecology, WOMEN, Obstetrics and Gynecology, Hormone replacement therapy (menopause), Middle Aged, Debulking, Progression-Free Survival, Postmenopause, Survival Rate, 030220 oncology & carcinogenesis, Female, Life Sciences & Biomedicine, medicine.medical_specialty, CARCINOMA, Hormone Replacement Therapy, ESTROGENS, Article, REPLACEMENT THERAPY, 03 medical and health sciences, AGE, Internal medicine, medicine, Humans, Survival rate, Aged, Neoplasm Staging, Proportional Hazards Models, Science & Technology, Proportional hazards model, business.industry, medicine.disease, 030104 developmental biology, Hormone therapy, Progestins, Ovarian cancer, business
Abstract: PURPOSE: Prior studies of menopausal hormone therapy (MHT) and ovarian cancer survival have been limited by lack of hormone regimen detail and insufficient sample sizes. To address these limitations, a comprehensive analysis of 6419 post-menopausal women with pathologically confirmed ovarian carcinoma was conducted to examine the association between MHT use prior to diagnosis and survival. METHODS: Data from 15 studies in the Ovarian Cancer Association Consortium were included. MHT use was examined by type (estrogen-only (ET) or estrogen+progestin (EPT)), duration, and recency of use relative to diagnosis. Cox proportional hazards models were used to estimate the association between hormone therapy use and survival. Logistic regression and mediation analysis was used to explore the relationship between MHT use and residual disease following debulking surgery. RESULTS: Use of ET or EPT for at least five years prior to diagnosis was associated with better ovarian cancer survival (hazard ratio, 0.80; 95% CI, 0.74 to 0.87). Among women with advanced stage, high-grade serous carcinoma, those who used MHT were less likely to have any macroscopic residual disease at the time of primary debulking surgery (p for trend
Published: 2020

28. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Author: Cheryl Cytrynbaum, Francesca Mattioli, Maria J. Guillen Sacoto, Federico Santoni, Rosanna Weksberg, Amina Nasar, Annemarie Fock, Henry Houlden, Shaikh Riazuddin, Tobias B. Haack, Roisin Sullivan, Mona Grimmel, Helen Griffin, Stylianos E. Antonarakis, Nuzhat Rana, Andreea Manole, Marisa I. Mendes, Ayca Dilruba Aslanger, Justyna Iwaszkiewicz, Julia Mohr, Rolph Pfundt, Muhammed Ilyas, Tina Duelund Hjortshøj, Kshitij Mankad, Muhammad Ansar, Katherine M. Christensen, Sonal Desai, Aida Telegrafi, Faisal Zafar, Helena Gásdal Karstensen, Dagan Jenkins, Yue Si, John F. Mantovani, Alice Goldenberg, Sylvain Debard, Muhammad T. Sarwar, Jagdeep S. Walia, Stephanie Efthymiou, Rita Horvath, Vincenzo Salpietro, Reza Maroofian, Jawad Ahmed, Joost Raaphorst, Lindsay B. Henderson, Benyekhlef Kara, Lauren Badalato, Adnan Y. Manzur, Desirée E.C. Smith, Ruben Portier, Marwan Shinawi, Marisa V. Andrews, Gajja S. Salomons, John B. Vincent, Amélie Piton, Felix Distelmaier, Emmanuelle Ranza, Jean-Louis Mandel, Sohail A. Paracha, Marybeth Hummel, Jürg Bähler, Dustin Baldridge, Muhammad A. Usmani, Lu Wang, Maria Rodriguez Lopez, Frédéric Fischer, Annette Seibt, Servi J. C. Stevens, Matthew J. Jennings, Majdi Kara, Amelia Kirby, Hubert Dominique Becker, Kristin W. Barañano, Christopher S. Francklyn, Saima Riazuddin, Rasim Ozgur Rosti, Emer O'Connor, Yalda Jamshidi, Barbara Oehl-Jaschkowitz, Ricardo Harripaul, Anne Marie Jelsig, Anna Sarkozy, Indran Davagnanam, Zubair M. Ahmed, David A. Koolen, Joseph G. Gleeson, Heinz Gabriel, Alkyoni Athanasiou-Fragkouli, Muhammad Ayub, Alejandro Horga, Conny van Ravenwaaij, Bruno Senger, Ingrid M. Wentzensen, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Neurology, Laboratory Genetic Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ASLANGER, Ayça Dilruba, Université de Strasbourg (UNISTRA), MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, and Amsterdam Reproduction & Development (AR&D)
Subjects: Male, 0301 basic medicine, Microcephaly, Developmental delay, [SDV]Life Sciences [q-bio], Aspartate-tRNA Ligase, TRANSFER-RNA SYNTHETASE, RNA, Transfer, Amino Acyl, 0302 clinical medicine, RNA, Transfer, Loss of Function Mutation, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), next generation sequencing, chemistry.chemical_classification, Genetics, neurodevelopment, Stem Cells, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Neural stem cell, Pedigree, Amino acid, developmental delay, Gain of Function Mutation, Transfer RNA, Female, Amino Acyl, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, Ataxia, Biology, Article, Cell Line, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, aminoacyl-tRNA synthetase, epilepsy, neuropathy, Alleles, Genetic Predisposition to Disease, Humans, Neurodevelopmental Disorders, 2 SIBLINGS, medicine, Allele, Epilepsy, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, medicine.disease, Transfer, 030104 developmental biology, Enzyme, chemistry, Aminoacyl-tRNA synthetase, RNA, 030217 neurology & neurosurgery, Function (biology)
Abstract: Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRNA synthetase (NARS1). We demonstrate a reduction in NARS1 mRNA expression as well as in NARS1 enzyme levels and activity in both individual fibroblasts and induced neural progenitor cells (iNPCs). Molecular modeling of the recessive c.1633C>T (p.Arg545Cys) variant shows weaker spatial positioning and tRNA selectivity. We conclude that de novo and bi-allelic mutations in NARS1 are a significant cause of neurodevelopmental disease, where the mechanism for de novo variants could be toxic gain-of-function and for recessive variants, partial loss-of-function.
Published: 2020

29. P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*

Author: Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, and Michael Talkowski
Published: 2023

30. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Author: Küry, Sébastien, primary, Ebstein, Frédéric, additional, Mollé, Alice, additional, Besnard, Thomas, additional, Lee, Ming-Kang, additional, Vignard, Virginie, additional, Hery, Tiphaine, additional, Nizon, Mathilde, additional, Mancini, Grazia M.S., additional, Giltay, Jacques C., additional, Cogné, Benjamin, additional, McWalter, Kirsty, additional, Deb, Wallid, additional, Mor-Shaked, Hagar, additional, Li, Hong, additional, Schnur, Rhonda E., additional, Wentzensen, Ingrid M., additional, Denommé-Pichon, Anne-Sophie, additional, Fourgeux, Cynthia, additional, Verheijen, Frans W., additional, Faurie, Eva, additional, Schot, Rachel, additional, Stevens, Cathy A., additional, Smits, Daphne J., additional, Barr, Eileen, additional, Sheffer, Ruth, additional, Bernstein, Jonathan A., additional, Stimach, Chandler L., additional, Kovitch, Eliana, additional, Shashi, Vandana, additional, Schoch, Kelly, additional, Smith, Whitney, additional, van Jaarsveld, Richard H., additional, Hurst, Anna C.E., additional, Smith, Kirstin, additional, Baugh, Evan H., additional, Bohm, Suzanne G., additional, Vyhnálková, Emílie, additional, Ryba, Lukáš, additional, Delnatte, Capucine, additional, Neira, Juanita, additional, Bonneau, Dominique, additional, Toutain, Annick, additional, Rosenfeld, Jill A., additional, Audebert-Bellanger, Séverine, additional, Gilbert-Dussardier, Brigitte, additional, Odent, Sylvie, additional, Laumonnier, Frédéric, additional, Berger, Seth I., additional, Smith, Ann C.M., additional, Bourdeaut, Franck, additional, Stern, Marc-Henri, additional, Redon, Richard, additional, Krüger, Elke, additional, Margueron, Raphaël, additional, Bézieau, Stéphane, additional, Poschmann, Jeremie, additional, and Isidor, Bertrand, additional
Published: 2022
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31. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

Author: Laboy Cintron, Dianne, primary, Muir, Alison M., additional, Scott, Abbey, additional, McDonald, Marie, additional, Monaghan, Kristin G., additional, Santiago-Sim, Teresa, additional, Wentzensen, Ingrid M., additional, De Luca, Chiara, additional, Brancati, Francesco, additional, Harris, David J., additional, Goueli, Cecilia, additional, Stottmann, Rolf, additional, Prada, Carlos E., additional, Biderman Waberski, Marta, additional, and Mefford, Heather C., additional
Published: 2022
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32. Development of a large biorepository of cervical specimens for the Improving Risk Informed HPV Screening study (IRIS)

Author: Raine-Bennett, Tina, primary, Gage, Julia C., additional, Poitras, Nancy, additional, Chandra, Malini, additional, Varnado, Nicole, additional, Befano, Brian, additional, Schiffman, Mark, additional, Lorey, Thomas, additional, and Wentzensen, Nicolas, additional
Published: 2021
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33. Inflammatory markers in women with reported benign gynecologic pathology: An analysis of the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial.

Author: KING, Ms. Lauren A., primary, WENTZENSEN, Dr. Nicolas, additional, PURDUE, Dr. Mark P., additional, KATKI, Dr. Hormuzd A., additional, PINTO, DR. Ligia A., additional, and TRABERT, Dr. Britton, additional
Published: 2021
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34. STRIDES - STudying Risk to Improve DisparitiES in Cervical Cancer in Mississippi – Design and baseline results of a Statewide Cohort Study

Author: Risley, Carolann, primary, Stewart, Mary W., additional, Geisinger, Kim R., additional, Hiser, Laree M., additional, Morgan, Jody C., additional, Owens, Kenyata J., additional, Ayyalasomayajula, Krishna, additional, Rives, Rhonda M., additional, Jannela, Ashish, additional, Grunes, Dianne E., additional, Zhang, Lei, additional, Schiffman, Mark, additional, Wentzensen, Nicolas, additional, and Clarke, Megan A., additional
Published: 2021
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35. Trends and predictors of hysterectomy prevalence among women in the United States

Author: Summer V. Harvey, Ruth M. Pfeiffer, Rebecca Landy, Nicolas Wentzensen, and Megan A. Clarke
Subjects: Ethnicity, Odds Ratio, Prevalence, Humans, Obstetrics and Gynecology, Female, Hispanic or Latino, Hysterectomy, United States
Abstract: Hysterectomy is the most common nonobstetrical medical procedure performed in US women. Evaluating hysterectomy prevalence trends and determinants is important for estimating gynecologic cancer rates and management of uterine conditions.This study aimed to assess hysterectomy prevalence trends and determinants using the Behavioral Risk Factor Surveillance System (2006-2016).We estimated crude hysterectomy prevalences and multivariable-adjusted odds ratios and 95% confidence intervals for associations of race or ethnicity, age group (5-year), body mass index (categorical), smoking status, education, insurance, income, and US region with hysterectomy. Missing data were imputed. The number of women in each survey year ranged from 220,302 in 2006 to 275,631 in 2016.Although overall hysterectomy prevalence changed little between 2006 and 2016 (21.4% and 21.1%, respectively), hysterectomy prevalence was lower in 2016 than in 2006 among women aged ≥40 years, particularly among non-Hispanic Black and Hispanic women. Current smoking (odds ratio, 1.38; 95% confidence interval, 1.35-1.41), increasing age (odds ratio, 1.40; 95% confidence interval, 1.39-1.40), living in the South compared with the Midwest (odds ratio, 1.36; 95% confidence interval, 1.34-1.39), higher body mass index (odds ratio, 1.26; 95% confidence interval, 1.25-1.27), Black race compared with White (odds ratio, 1.10; 95% confidence interval, 1.07-1.13), and having insurance compared with being uninsured (odds ratio, 1.26; 95% confidence interval, 1.22-1.30) were most strongly associated with increased prevalence. Hispanic ethnicity and living in the Northeast were most strongly associated with decreased prevalence (odds ratio, 0.73; 95% confidence interval, 0.70-0.76; odds ratio, 0.67; 95% confidence interval, 0.65-0.69).Nationwide hysterectomy prevalence decreased among women aged ≥40 years from 2006 to 2016, particularly among non-Hispanic Black and Hispanic women. Age, non-Hispanic Black race, having insurance, current smoking, and living in the South were associated with increased odds of hysterectomy, even after accounting for possible explanatory factors. Further research is needed to better understand associations of race and ethnicity and region with hysterectomy prevalence.
Published: 2022

36. A comparison of high-grade cervical abnormality risks in women living with and without human immunodeficiency virus undergoing routine cervical-cancer screening

Author: Philip E, Castle, Brian, Befano, Mark, Schiffman, Nicolas, Wentzensen, Thomas, Lorey, Nancy, Poitras, Marianne, Hyer, and Li C, Cheung
Subjects: Vaginal Smears, Epidemiology, Papillomavirus Infections, Public Health, Environmental and Occupational Health, HIV, Uterine Cervical Neoplasms, HIV Infections, Alphapapillomavirus, Uterine Cervical Dysplasia, Humans, Mass Screening, Female, Papillomaviridae, Early Detection of Cancer
Abstract: As the US moves increasingly towards using human papillomavirus (HPV) testing with or without concurrent cytology for cervical cancer screening, it is unknown what the corresponding risks are following a screening result for women living with HIV (WLWH), which will dictate the optimal clinical follow-up. Therefore, using medical records data from Kaiser Permanente Northern California, which introduced triennial HPV and cytology co-testing in women aged 30-64 years in 2003, we compared risks of cervical intraepithelial neoplasia grade 2 (CIN2) or more severe diagnoses (CIN2+) in women not known to have HIV (HIV[-] women) (n = 67,488) frequency matched 111:1 on age and year of the first co-test to the 608 WLWH (n = 608). WLWH were more likely to test HPV positive (20.2% vs. 6.5%, p 0.001) and have non-normal cytology (14.1% vs. 4.1%, p 0.001) than HIV[-] women. Five-year CIN2+ risks for all WLWH and HIV[-] women were 3.5% (95%CI = 2.0-5.0%) and 1.6% (95%CI = 1.5-1.8%) (p = 0.01), respectively. Five-year CIN2+ risks for WLWH with positive HPV and non-normal cytology, positive HPV and normal cytology, negative HPV and non-normal cytology, and negative HPV and normal cytology were 24.9% (95%CI = 13.4-36.4%), 3.0% (95%CI = 0.0-7.4%), 3.6 (95%CI = 0.0-9.8%) and 0.3% (95%CI = 0.0-0.8%), respectively. Corresponding 5-year CIN2+ risks for HIV[-] women were 26.6% (95%CI = 24.6-28.7%), 8.5% (95%CI = 7.2-9.9%), 1.9% (95%CI = 1.0-2.8%), and 0.5% (95%CI = 0.4-0.6%), respectively. Thus, in this healthcare setting, the main cause in overall CIN2+ risk differences between WLWH and HIV[-] women was the former was more likely to screen positive and once the screening result is known, it may be reasonable to manage both populations similarly.
Published: 2022

37. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Author: Fasham, James, primary, Lin, Siying, additional, Ghosh, Promita, additional, Radio, Francesca Clementina, additional, Farrow, Emily G., additional, Thiffault, Isabelle, additional, Kussman, Jennifer, additional, Zhou, Dihong, additional, Hemming, Rick, additional, Zahka, Kenneth, additional, Chioza, Barry A., additional, Rawlins, Lettie E., additional, Wenger, Olivia K., additional, Gunning, Adam C., additional, Pizzi, Simone, additional, Onesimo, Roberta, additional, Zampino, Giuseppe, additional, Barker, Emily, additional, Osawa, Natasha, additional, Rodriguez, Megan Christine, additional, Neuhann, Teresa M., additional, Zackai, Elaine H., additional, Keena, Beth, additional, Capasso, Jenina, additional, Levin, Alex V., additional, Bhoj, Elizabeth, additional, Li, Dong, additional, Hakonarson, Hakon, additional, Wentzensen, Ingrid M., additional, Jackson, Adam, additional, Chandler, Kate E., additional, Coban-Akdemir, Zeynep H., additional, Posey, Jennifer E., additional, Banka, Siddharth, additional, Lupski, James R., additional, Sheppard, Sarah E., additional, Tartaglia, Marco, additional, Triggs-Raine, Barbara, additional, Crosby, Andrew H., additional, and Baple, Emma L., additional
Published: 2021
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38. Talc, body powder, and ovarian cancer: A summary of the epidemiologic evidence

Author: Wentzensen, Nicolas, primary and O'Brien, Katie M., additional
Published: 2021
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39. Impact of COVID-19 on cervical cancer screening: Challenges and opportunities to improving resilience and reduce disparities

Author: Wentzensen, Nicolas, primary, Clarke, Megan A., additional, and Perkins, Rebecca B., additional
Published: 2021
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40. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Author: Schnur, Rhonda E., primary, Yousaf, Sairah, additional, Liu, James, additional, Chung, Wendy K., additional, Rhodes, Lindsay, additional, Marble, Michael, additional, Zambrano, Regina M., additional, Sobreira, Nara, additional, Jayakar, Parul, additional, Pierpont, Mary Ella, additional, Schultz, Matthew J., additional, Pichurin, Pavel N., additional, Olson, Rory J., additional, Graham, Gail E., additional, Osmond, Matthew, additional, Contreras-García, Gustavo A., additional, Campo-Neira, Karina A., additional, Peñaloza-Mantilla, Camilo A., additional, Flage, Mark, additional, Kuppa, Srikar, additional, Navarro, Karina, additional, Sacoto, Maria J. Guillen, additional, Wentzensen, Ingrid M., additional, Scarano, Maria I., additional, Juusola, Jane, additional, Prada, Carlos E., additional, and Hufnagel, Robert B., additional
Published: 2021
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41. Epidemiology of anal human papillomavirus infection and high-grade squamous intraepithelial lesions in 29 900 men according to HIV status, sexuality, and age: a collaborative pooled analysis of 64 studies

Author: Wei, Feixue, primary, Gaisa, Michael M, additional, D'Souza, Gypsyamber, additional, Xia, Ningshao, additional, Giuliano, Anna R, additional, Hawes, Stephen E, additional, Gao, Lei, additional, Cheng, Shu-Hsing, additional, Donà, Maria Gabriella, additional, Goldstone, Stephen E, additional, Schim van der Loeff, Maarten F, additional, Neukam, Karin, additional, Meites, Elissa, additional, Poynten, I Mary, additional, Dai, Jianghong, additional, Combes, Jean-Damien, additional, Wieland, Ulrike, additional, Burgos, Joaquin, additional, Wilkin, Timothy J, additional, Hernandez, Alexandra L, additional, Iribarren Díaz, Mauricio, additional, Hidalgo-Tenorio, Carmen, additional, Valencia Arredondo, Marleny, additional, Nyitray, Alan G, additional, Wentzensen, Nicolas, additional, Chow, Eric PF, additional, Smelov, Vitaly, additional, Nowak, Rebecca G, additional, Phanuphak, Nittaya, additional, Woo, Yin Ling, additional, Choi, Yoojin, additional, Hu, Yifei, additional, Schofield, Alice M, additional, Woestenberg, Petra J, additional, Chikandiwa, Admire T, additional, Hickey, Andrew C, additional, de Pokomandy, Alexandra, additional, Murenzi, Gad, additional, Péré, Hélène, additional, del Pino, Marta, additional, Ortiz, Ana P, additional, Charnot-Katsikas, Angella, additional, Liu, Xing, additional, Chariyalertsak, Suwat, additional, Strong, Carol, additional, Ong, Jason J, additional, Yunihastuti, Evy, additional, Etienney, Isabelle, additional, Ferré, Valentine M, additional, Zou, Huachun, additional, Segondy, Michel, additional, Chinyowa, Simbarashe, additional, Alberts, Catharina J, additional, and Clifford, Gary M, additional
Published: 2021
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42. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Author: Francisca Millan, Mieke M. van Haelst, Ankita Patel, Cédric Le Caignec, Jean P. Pfotenhauer, Wendy E. Smith, Denise Horn, Klaske D. Lichtenbelt, Tanner Hagelstrom, David A. Dyment, Ryan J. Taft, Jill V. Hunter, Jolanta Wierzba, Margarita Saenz, Ian D. Krantz, Denise L. Perry, Luis F. Escobar, Bertrand Isidor, Ingrid Cristian, Richard E. Person, Aditi Chawla, Michael D. Fountain, Diane Masser-Frye, Sarah E. Raible, Koen L.I. van Gassen, Erin Torti, Weimin Bi, Philip J. Lupo, Jill A. Rosenfeld, Chumei Li, Claude Férec, Robert C. Pedersen, Megan E. Rech, Fan Xia, Sébastien Küry, Ilaria Parenti, Ingrid M. Wentzensen, Loren D M Pena, Jane Juusola, Manuel Holtgrewe, Frank J. Kaiser, John M. McCarthy, David S. Oleson, Arnold Munnich, Kévin Uguen, Thomas M. Morgan, Lara Segebrecht, Sung Hae L. Kang, Nadja Ehmke, Sunita Venkateswaran, Christian P. Schaaf, Marilyn C. Jones, Tim M. Strom, Rocio Moran, Stéphane Bézieau, Rebecca C. Spillmann, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, and Amsterdam Reproduction & Development (AR&D)
Subjects: speech delay, Autism Spectrum Disorder, Autism, Haploinsufficiency, Bioinformatics, Whole Exome Sequencing, white matter paucity, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, 2.1 Biological and endogenous factors, Genetics(clinical), Child, Genetics (clinical), Exome sequencing, Pediatric, Genetics & Heredity, 0303 health sciences, Genome, neurodevelopment, Nuclear Proteins, Phenotype, Hypotonia, ddc, 3. Good health, DNA-Binding Proteins, Mental Health, Autism spectrum disorder, Speech delay, Chromosome Deletion, medicine.symptom, Human, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Article, 03 medical and health sciences, Clinical Research, Usp7, Neurodevelopment, Speech Delay, White Matter Paucity, Corpus Callosum Thinning, Intellectual Disability, 030225 pediatrics, Behavioral and Social Science, Genetics, medicine, Humans, Language Development Disorders, Preschool, 030304 developmental biology, Problem Behavior, business.industry, corpus callosum thinning, Neurosciences, Proteins, Infant, Newborn, medicine.disease, Brain Disorders, Neurodevelopmental Disorders, USP7, Congenital Structural Anomalies, business
Abstract: Purpose: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identified to critically incorporate into the MAGEL2-USP7-TRIM27 (MUST), such that pathogenic variants in USP7 lead to altered endosomal F-actin polymerization and dysregulated protein recycling. Methods: We report 16 newly identified individuals with heterozygous USP7 variants, identified by genome or exome sequencing or by chromosome microarray analysis. Clinical features were evaluated by review of medical records. Additional clinical information was obtained on the seven previously reported individuals to fully elucidate the phenotypic expression associated with USP7 haploinsufficiency. Results: The clinical manifestations of these 23 individuals suggest a syndrome characterized by DD/ID, hypotonia, eye anomalies,feeding difficulties, GERD, behavioral anomalies, and ASD, and more specific phenotypes of speech delays including a nonverbal phenotype and abnormal brain magnetic resonance image findings including white matter changes based on neuroradiologic examination. Conclusion: The consistency of clinical features among all individuals presented regardless of de novo USP7 variant type supports haploinsufficiency as a mechanism for pathogenesis and refines the clinical impact faced by affected individuals and caregivers.
Published: 2019

43. Human papillomavirus 16 sub-lineage dispersal and cervical cancer risk worldwide: Whole viral genome sequences from 7116 HPV16-positive women

Author: Sara Bass, Mark Schiffman, Zigui Chen, Lisa Mirabello, Miquel Angel Pavon, Laia Alemany, Michael Cullen, Nicolas Wentzensen, Damien Georges, Tina Raine-Bennett, Thomas Lorey, Rosemary E. Zuna, Mia Steinberg, Meredith Yeager, Joan L. Walker, Vanessa Tenet, Gary M. Clifford, and Joseph Boland
Subjects: Uterine Cervical Neoplasms, ASCUS, atypical squamous cells of undetermined significance, Global Health, SCC, squamous cell carcinoma, HPV epidemiology, 0302 clinical medicine, Epidemiology, 030212 general & internal medicine, CIN, cervical intraepithelial neoplasia, Phylogeny, Cervical cancer, Human papillomavirus 16, High-Throughput Nucleotide Sequencing, Whole virus genome sequencing, HPV genomics, ADC, adenocarcinoma/adenosquamous cell carcinoma, LSIL, low-grade squamous intraepithelial lesion, Infectious Diseases, 030220 oncology & carcinogenesis, HPV carcinogenesis, Carcinoma, Squamous Cell, Adenocarcinoma, Female, HPV16, medicine.medical_specialty, Lineage (genetic), Genotype, HPV, human papillomavirus, Genome, Viral, Risk Assessment, Article, HC2, Hybrid Capture2, lcsh:Infectious and parasitic diseases, 03 medical and health sciences, NCI, National Cancer Institute, KPNC, Kaiser Permanente Northern California, Virology, Genetic variation, medicine, Humans, lcsh:RC109-216, Whole Genome Sequencing, business.industry, Papillomavirus Infections, HSIL, high-grade squamous intraepithelial lesion, Genetic Variation, Cancer, IARC, International Agency for Research on Cancer, ICO, Catalan Institute of Oncology, Odds ratio, medicine.disease, CI, confidence interval, OR, odds ratio, Biological dispersal, business, Demography
Abstract: Background: Human papillomavirus (HPV)16 can be separated into genetic sub-lineages (A1–4, B1–4, C1–4, D1–4) which may have differential cervical cancer risk. Methods: A next-generation sequencing assay was used to whole-genome sequence 7116 HPV16-positive cervical samples from well-characterised international epidemiological studies, including 2076 controls, 1878 squamous cell carcinoma (SCC) and 186 adenocarcinoma/adenosquamous cell carcinoma (ADC), and to assign HPV16 sub-lineage. Logistic regression was used to estimate region-stratified country-adjusted odds ratios (OR) and 95%CI. Results: A1 was the most globally widespread sub-lineage, with others showing stronger regional specificity (A3 and A4 for East Asia, B1–4 and C1–4 for Africa, D2 for the Americas, B4, C4 and D4 for North Africa). Increased cancer risks versus A1 were seen for A3, A4 and D (sub)lineages in regions where they were common: A3 in East Asia (OR=2.2, 95%CI:1.0–4.7); A4 in East Asia (6.6, 3.1–14.1) and North America (3.8, 1.7–8.3); and D in North (6.2, 4.1–9.3) and South/Central America (2.2, 0.8–5.7), where D lineages were also more frequent in ADC than SCC (3.2, 1.5–6.5; 12.1, 5.7–25.6, respectively). Conclusions: HPV16 genetic variation can strongly influence cervical cancer risk. However, burden of cervical cancer attributable to different sub-lineages worldwide is largely driven by historical HPV16 sub-lineage dispersal. Keywords: HPV16, Cervical cancer, HPV carcinogenesis, HPV epidemiology, HPV genomics, Whole virus genome sequencing
Published: 2019

44. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Author: Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Sainte Justine [Montréal], Université du Québec à Montréal = University of Québec in Montréal (UQAM), University of Oxford [Oxford], GeneDx [Gaithersburg, MD, USA], Mayo Clinic [Rochester], University of California [San Francisco] (UCSF), University of California, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Etablissement Français du Sang Bretagne, EFS, Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Johns Hopkins University School of Medicine [Baltimore], Kennedy Krieger Institute [Baltimore], Chapel Allerton Hospital, University of British Columbia (UBC), University of Dundee, Rush University Medical Center [Chicago], Oxford University Hospitals NHS Trust, Queen Elizabeth University Hospital (Glasgow), Trondheim University, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), University of Virginia [Charlottesville], Texas Children's Hospital [Houston, USA], Baylor College of Medicine (BCM), Baylor University, University of Pennsylvania [Philadelphia], National Human Genome Research Institute (NHGRI), Harvard Medical School [Boston] (HMS), Karolinska University Hospital [Stockholm], Duke University Medical Center, University of Groningen [Groningen], University of Arkansas for Medical Sciences (UAMS), McGovern Medical School [Houston, Texas], The University of Texas Health Science Center at Houston (UTHealth), Phoenix Children's Hospital, Columbia University [New York], University of Southern Queensland (USQ), Telemark Hospital Trust [Skien, Norway], University of Washington [Seattle], Oslo University Hospital [Oslo], Children’s Hospital of Philadelphia (CHOP ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Radboud University Medical Center [Nijmegen], Ann & Robert H. Lurie Children's Hospital of Chicago, Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre hospitalier universitaire de Poitiers (CHU Poitiers), University of Alberta, Boston Children's Hospital, McGill University Health Center [Montreal] (MUHC), Hôpital Morvan - CHRU de Brest (CHU - BREST ), Creighton University Medical School [Omaha, NE, USA], Howard Hughes Medical Institute [Boston] (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School [Boston] (HMS), National Institute of Neurological Disorders and Stroke, K08 HG008986, National Human Genome Research Institute, BC Children’s Hospital Foundation, Genome British Columbia, Fonds de Recherche du Québec - Santé, Canadian Institutes of Health Research, Center for Individualized Medicine, Mayo Clinic, Health Regional Agency from Poitou-Charentes, French Ministry of Health, RC14_0107, HUGODIMS, NS053998, The Epilepsy Phenome/Genome Project, NS077303, Epi4K, Duke Genome Sequencing Clinic, NINDS R35 NS105078, National Institutes of Health/Eunice Kennedy Shriver National Institute of Child Health and Human Development, HG200328 12, intramural research program of the NHGRI, Dart NeuroScience, Kids Brain Health Network, Mining for Miracles, UM1 HG006542, National Heart, Lung, and Blood Institute, CIM Investigative and Functional Genomics Program, R01MH101221, National Institute of Mental Health, Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), University of Oxford, University of California [San Francisco] (UC San Francisco), University of California (UC), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Virginia, University of Pennsylvania, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), CCSD, Accord Elsevier, Faculteit Medische Wetenschappen/UMCG, Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
Subjects: CHROMATIN, Male, 0301 basic medicine, Autism, Sequence Homology, [SDV.GEN] Life Sciences [q-bio]/Genetics, Medical and Health Sciences, 0302 clinical medicine, SCHIZOPHRENIA, Gene expression, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Child, de novo variants, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, biology, neurodevelopmental disorders, histone acetylation, Adaptor Proteins, Nuclear Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Biological Sciences, Prognosis, Phenotype, Chromatin, Mental Health, Histone, intellectual disability, Child, Preschool, Female, REGULATOR, congenital malformations, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], BRAIN-DEVELOPMENT, Adult, Adolescent, Histone acetyltransferase complex, Intellectual and Developmental Disabilities (IDD), Mutation, Missense, Deciphering Developmental Disorders study, autism spectrum disorder, KAT6B, RNAI SCREEN, Young Adult, 03 medical and health sciences, CAUSES Study, Rare Diseases, Intellectual Disability, Report, COFACTOR, medicine, RUBINSTEIN-TAYBI-SYNDROME, Humans, Amino Acid Sequence, Autistic Disorder, Preschool, Gene, Genetic Association Studies, Adaptor Proteins, Signal Transducing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Rubinstein–Taybi syndrome, Signal Transducing, Neurosciences, Infant, medicine.disease, TRRAP, Brain Disorders, SELF-RENEWAL, 030104 developmental biology, DE-NOVO MUTATIONS, Mutation, biology.protein, Missense, 030217 neurology & neurosurgery
Abstract: Contains fulltext : 202928.pdf (Publisher’s version ) (Open Access) Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants.
Published: 2019

45. 2020 list of human papillomavirus assays suitable for primary cervical cancer screening

Author: Arbyn, Marc, primary, Simon, Marie, additional, Peeters, Eliana, additional, Xu, Lan, additional, Meijer, Chris J.L.M., additional, Berkhof, Johannes, additional, Cuschieri, Kate, additional, Bonde, Jesper, additional, Ostrbenk Vanlencak, Anja, additional, Zhao, Fang-Hui, additional, Rezhake, Remila, additional, Gultekin, Murat, additional, Dillner, Joakim, additional, de Sanjosé, Silvia, additional, Canfell, Karen, additional, Hillemanns, Peter, additional, Almonte, Maribel, additional, Wentzensen, Nicolas, additional, and Poljak, Mario, additional
Published: 2021
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46. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Author: Chowdhury, Fuad, primary, Wang, Lei, additional, Al-Raqad, Mohammed, additional, Amor, David J., additional, Baxová, Alice, additional, Bendová, Šárka, additional, Biamino, Elisa, additional, Brusco, Alfredo, additional, Caluseriu, Oana, additional, Cox, Nancy J., additional, Froukh, Tawfiq, additional, Gunay-Aygun, Meral, additional, Hančárová, Miroslava, additional, Haynes, Devon, additional, Heide, Solveig, additional, Hoganson, George, additional, Kaname, Tadashi, additional, Keren, Boris, additional, Kosaki, Kenjiro, additional, Kubota, Kazuo, additional, Lemons, Jennifer M., additional, Magriña, Maria A., additional, Mark, Paul R., additional, McDonald, Marie T., additional, Montgomery, Sarah, additional, Morley, Gina M., additional, Ohnishi, Hidenori, additional, Okamoto, Nobuhiko, additional, Rodriguez-Buritica, David, additional, Rump, Patrick, additional, Sedláček, Zdeněk, additional, Schatz, Krista, additional, Streff, Haley, additional, Uehara, Tomoko, additional, Walia, Jagdeep S., additional, Wheeler, Patricia G., additional, Wiesener, Antje, additional, Zweier, Christiane, additional, Kawakami, Koichi, additional, Wentzensen, Ingrid M., additional, Lalani, Seema R., additional, Siu, Victoria M., additional, Bi, Weimin, additional, and Balci, Tugce B., additional
Published: 2021
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47. Quantifying procedural pain associated with office gynecologic tract sampling methods

Author: Bagaria, Madhu, primary, Wentzensen, Nicolas, additional, Clarke, Megan, additional, Hopkins, Matthew R., additional, Ahlberg, Lisa J., additional, Mc Guire, Lois J., additional, Lemens, Maureen A., additional, Weaver, Amy L., additional, VanOosten, Ann, additional, Shields, Emily, additional, Laughlin-Tommaso, Shannon K., additional, Sherman, Mark E., additional, and Bakkum-Gamez, Jamie N., additional
Published: 2021
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48. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Author: Rots, Dmitrijs, primary, Chater-Diehl, Eric, additional, Dingemans, Alexander J.M., additional, Goodman, Sarah J., additional, Siu, Michelle T., additional, Cytrynbaum, Cheryl, additional, Choufani, Sanaa, additional, Hoang, Ny, additional, Walker, Susan, additional, Awamleh, Zain, additional, Charkow, Joshua, additional, Meyn, Stephen, additional, Pfundt, Rolph, additional, Rinne, Tuula, additional, Gardeitchik, Thatjana, additional, de Vries, Bert B.A., additional, Deden, A. Chantal, additional, Leenders, Erika, additional, Kwint, Michael, additional, Stumpel, Constance T.R.M., additional, Stevens, Servi J.C., additional, Vermeulen, Jeroen R., additional, van Harssel, Jeske V.T., additional, Bosch, Danielle G.M., additional, van Gassen, Koen L.I., additional, van Binsbergen, Ellen, additional, de Geus, Christa M., additional, Brackel, Hein, additional, Hempel, Maja, additional, Lessel, Davor, additional, Denecke, Jonas, additional, Slavotinek, Anne, additional, Strober, Jonathan, additional, Crunk, Amy, additional, Folk, Leandra, additional, Wentzensen, Ingrid M., additional, Yang, Hui, additional, Zou, Fanggeng, additional, Millan, Francisca, additional, Person, Richard, additional, Xie, Yili, additional, Liu, Shuxi, additional, Ousager, Lilian B., additional, Larsen, Martin, additional, Schultz-Rogers, Laura, additional, Morava, Eva, additional, Klee, Eric W., additional, Berry, Ian R., additional, Campbell, Jennifer, additional, Lindstrom, Kristin, additional, Pruniski, Brianna, additional, Neumeyer, Ann M., additional, Radley, Jessica A., additional, Phornphutkul, Chanika, additional, Schmidt, Berkley, additional, Wilson, William G., additional, Õunap, Katrin, additional, Reinson, Karit, additional, Pajusalu, Sander, additional, van Haeringen, Arie, additional, Ruivenkamp, Claudia, additional, Cuperus, Roos, additional, Santos-Simarro, Fernando, additional, Palomares-Bralo, María, additional, Pacio-Míguez, Marta, additional, Ritter, Alyssa, additional, Bhoj, Elizabeth, additional, Tønne, Elin, additional, Tveten, Kristian, additional, Cappuccio, Gerarda, additional, Brunetti-Pierri, Nicola, additional, Rowe, Leah, additional, Bunn, Jason, additional, Saenz, Margarita, additional, Platzer, Konrad, additional, Mertens, Mareike, additional, Caluseriu, Oana, additional, Nowaczyk, Małgorzata J.M., additional, Cohn, Ronald D., additional, Kannu, Peter, additional, Alkhunaizi, Ebba, additional, Chitayat, David, additional, Scherer, Stephen W., additional, Brunner, Han G., additional, Vissers, Lisenka E.L.M., additional, Kleefstra, Tjitske, additional, Koolen, David A., additional, and Weksberg, Rosanna, additional
Published: 2021
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49. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Author: Muir, Alison M., primary, Gardner, Jennifer F., additional, van Jaarsveld, Richard H., additional, de Lange, Iris M., additional, van der Smagt, Jasper J., additional, Wilson, Golder N., additional, Dubbs, Holly, additional, Goldberg, Ethan M., additional, Zitano, Lia, additional, Bupp, Caleb, additional, Martinez, Jose, additional, Srour, Myriam, additional, Accogli, Andrea, additional, Alhakeem, Afnan, additional, Meltzer, Meira, additional, Gropman, Andrea, additional, Brewer, Carole, additional, Caswell, Richard C., additional, Montgomery, Tara, additional, McKenna, Caoimhe, additional, McKee, Shane, additional, Powell, Corinna, additional, Vasudevan, Pradeep C., additional, Brady, Angela F., additional, Joss, Shelagh, additional, Tysoe, Carolyn, additional, Noh, Grace, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Zafar, Muhammad, additional, Schrier Vergano, Samantha A., additional, Murray, Brianna, additional, Sawyer, Lindsey, additional, Hainline, Bryan E., additional, Sapp, Katherine, additional, DeMarzo, Danielle, additional, Huismann, Darcy J., additional, Wentzensen, Ingrid M., additional, Schnur, Rhonda E., additional, Monaghan, Kristin G., additional, Juusola, Jane, additional, Rhodes, Lindsay, additional, Dobyns, William B., additional, Lecoquierre, Francois, additional, Goldenberg, Alice, additional, Polster, Tilman, additional, Axer-Schaefer, Susanne, additional, Platzer, Konrad, additional, Klöckner, Chiara, additional, Hoffman, Trevor L., additional, MacArthur, Daniel G., additional, O’Leary, Melanie C., additional, VanNoy, Grace E., additional, England, Eleina, additional, Varghese, Vinod C., additional, and Mefford, Heather C., additional
Published: 2021
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50. Risk of cervical precancer and cancer among uninsured and underserved women from 2009 to 2017

Author: Saraiya, Mona, primary, Cheung, Li C., additional, Soman, Ashwini, additional, Mix, Jacqueline, additional, Kenney, Kristy, additional, Chen, Xiaojian, additional, Perkins, Rebecca B., additional, Schiffman, Mark, additional, Wentzensen, Nicolas, additional, and Miller, Jacqueline, additional
Published: 2021
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