Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria von Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Karchin, Rachel, O’Donnell-Luria, Anne, Harrison, Steven M., Tavtigian, Sean V., Greenblatt, Marc S., Biesecker, Leslie G., Radivojac, Predrag, Brenner, Steven E., Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott

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matchbox: An open‐source tool for patient matching via the Matchmaker Exchange von Arachchi, Harindra, Wojcik, Monica H, Weisburd, Benjamin, Jacobsen, Julius O. B., Valkanas, Elise, Baxter, Samantha, Byrne, Alicia B., O'Donnell‐Luria, Anne H., Haendel, Melissa, Smedley, Damian, MacArthur, Daniel G., Philippakis, Anthony A., Rehm, Heidi L.

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Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia von De Angelis, Carla, Byrne, Alicia B., Morrow, Rebecca, Feng, Jinghua, Ha, Thuong, Wang, Paul, Schreiber, Andreas W., Babic, Milena, Taranath, Ajay, Manton, Nick, King-Smith, Sarah L., Schwarz, Quenten, Arts, Peer, Scott, Hamish S., Barnett, Christopher

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ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification von Biesecker, Leslie G., Byrne, Alicia B., Harrison, Steven M., Pesaran, Tina, Schäffer, Alejandro A., Shirts, Brian H., Tavtigian, Sean V., Rehm, Heidi L.

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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup von Walker, Logan C., Hoya, Miguel de la, Wiggins, George A.R., Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T., Canson, Daffodil M., Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B., Pesaran, Tina, Karam, Rachid, Harrison, Steven M., Spurdle, Amanda B., Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott

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A guide to gene-disease relationships in nephrology von Stark, Zornitza, Byrne, Alicia B, Sampson, Matthew G, Lennon, Rachel, Mallett, Andrew J

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Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations von Stenton, Sarah L., Pejaver, Vikas, Bergquist, Timothy, Biesecker, Leslie G., Byrne, Alicia B., Nadeau, Emily A.W., Greenblatt, Marc S., Harrison, Steven M., Tavtigian, Sean V., Radivojac, Predrag, Brenner, Steven E., O’Donnell-Luria, Anne, Biesecker, Leslie G., Harrison, Steven M., Tayoun, Ahmad A., Berg, Jonathan S., Brenner, Steven E., Cutting, Garry R., Ellard, Sian, Greenblatt, Marc S., Kang, Peter, Karbassi, Izabela, Karchin, Rachel, Mester, Jessica, O’Donnell-Luria, Anne, Pesaran, Tina, Plon, Sharon E., Rehm, Heidi L., Strande, Natasha T., Tavtigian, Sean V., Topper, Scott

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Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5 von Kodani, Andrew, Kenny, Connor, Lai, Abbe, Gonzalez, Dilenny M., Stronge, Edward, Sejourne, Gabrielle M., Isacco, Laura, Partlow, Jennifer N., O’Donnell, Anne, McWalter, Kirsty, Byrne, Alicia B., Barkovich, A. James, Yang, Edward, Hill, R. Sean, Gawlinski, Pawel, Wiszniewski, Wojciech, Cohen, Julie S., Fatemi, S. Ali, Baranano, Kristin W., Sahin, Mustafa, Vossler, David G., Yuskaitis, Christopher J., Walsh, Christopher A.

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Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome von Arts, Peer, Garland, Jessica, Byrne, Alicia B., Hardy, Tristan S.E., Babic, Milena, Feng, Jinghua, Wang, Paul, Ha, Thuong, King‐Smith, Sarah L., Schreiber, Andreas W., Crawford, April, Manton, Nick, Moore, Lynette, Barnett, Christopher P., Scott, Hamish S.

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Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 von Byrne, Alicia B., Arts, Peer, Polyak, Steven W., Feng, Jinghua, Schreiber, Andreas W., Kassahn, Karin S., Hahn, Christopher N., Mordaunt, Dylan A., Fletcher, Janice M., Lipsett, Jillian, Bratkovic, Drago, Booker, Grant W., Smith, Nicholas J., Scott, Hamish S.

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death von Byrne, Alicia B, Broad Institute Center for Mendelian Genomics, Genomic Autopsy Study Research Network, Scott, Hamish S

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Centers for Mendelian Genomics: A decade of facilitating gene discovery von Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Lek, Monkol, Jhangiani, Shalini N., Lifton, Richard P., Matise, Tara C., Lupski, James R., Valle, David, Nickerson, Deborah A., Akay, Gulsen, Antonescu, Corina, Austin-Tse, Christina A., Bacus, Tamara J., Bahrambeigi, Vahid, Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boone, Philip M., Calame, Daniel, Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Clarke, Declan, Delano, Kayla, Doddapaneni, Harshavardhan, Du, Renqian, Fatih, Jawid, Francioli, Laurent C., Fu, Jack, Gambin, Tomasz, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Gonzaga-Jauregui, Claudia, Grochowski, Christopher M., Gu, Shen, Hansen, Adam, Harmanci, Arif O., Huang, Yongqing, Johanson, Eric, Karaca, Ender, Kumar, Sushant, Laricchia, Kristen M., Ling, Hua, Lipson, Rachel B., MacMillan, Melissa P., Marshall, Jamie L., Martin, Renan, McGee, Sean, Mekonnen, Betselote, Mullen, Thomas E., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nielsen, Patrick M., Nudelman, Natalie, O’Leary, Melanie C., Pais, Lynn S., Patterson, Karynne, Pehlivan, Davut, Penney, Samantha, Pierce-Hoffman, Emma, Radhakrishnan, Aparna, Richardson, Matthew A., Roote, Gwendolin T., Sabo, Aniko, Scott, Daryl A., Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Snow, Hana, Solomonson, Matthew, Song, Xiaofei, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Valivullah, Zaheer, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Wilson, Michael W., Wiszniewski, Wojciech, Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wu, Nan, Yi, Qian, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Yeting, Zoghbi, Huda, van den Veyver, Igna, O’Donnell-Luria, Anne

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169 Curating the fetal genome: experience of the ClinGen prenatal gene curation expert panel (GCEP) von Galloway, Stephanie, Giordano, Jessica L., Thomas-Wilson, Amanda, Okur, Volkan, Shawber, Carrie J., Gilmore, Kelly L., Ratliff, Julie, Lazar, Roni Zemet, Ganapathi, Mythily, Chandler, Natalie, Vora, Neeta L., Dharmadhikari, Avinash V., Van Ziffle, Jessica, Sparks, Teresa N., Chitayat, David, Chitty, Lyn, Riggs, Erin, Byrne, Alicia B., Wapner, Ronald J., Chung, Wendy, Van den Veyver, Ignatia B.

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death von Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., Scott, Hamish S.

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Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death von Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., Scott, Hamish S.

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Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome von Arts, Peer, Garland, Jessica, Byrne, Alicia B, Hardy, Tristan S E, Babic, Milena, Feng, Jinghua, Wang, Paul, Ha, Thuong, King-Smith, Sarah L, Schreiber, Andreas W, Crawford, April, Manton, Nick, Moore, Lynette, Barnett, Christopher P, Scott, Hamish S

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Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 von Byrne, Alicia B, Arts, Peer, Polyak, Steven W, Feng, Jinghua, Schreiber, Andreas W, Kassahn, Karin S, Hahn, Christopher N, Mordaunt, Dylan A, Fletcher, Janice M, Lipsett, Jillian, Bratkovic, Drago, Booker, Grant W, Smith, Nicholas J, Scott, Hamish S

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Postoperative risk of IDH-mutant glioma-associated seizures and their potential management with IDH-mutant inhibitors von Drumm, Michael R, Wang, Wenxia, Sears, Thomas K, Bell-Burdett, Kirsten, Javier, Rodrigo, Cotton, Kristen Y, Webb, Brynna, Byrne, Kayla, Unruh, Dusten, Thirunavu, Vineeth, Walshon, Jordain, Steffens, Alicia, McCortney, Kathleen, Lukas, Rimas V, Phillips, Joanna J, Mohamed, Esraa, Finan, John D, Santana-Santos, Lucas, Heimberger, Amy B, Franz, Colin K, Kurz, Jonathan, Templer, Jessica W, Swanson, Geoffrey T, Horbinski, Craig

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Sex‐ and site‐specific associations of circulating lipocalin 2 and incident colorectal cancer: Results from the EPIC cohort von Reichmann, Robin, Nimptsch, Katharina, Pischon, Tobias, Gunter, Marc J., Jenab, Mazda, Eriksen, Anne Kirstine, Tjonneland, Anne, Janke, Jürgen, Katzke, Verena, Kaaks, Rudolf, Schulze, Matthias B., Eichelmann, Fabian, Masala, Giovanna, Sieri, Sabina, Pasanisi, Fabrizio, Tumino, Rosario, Giraudo, Maria Teresa, Rothwell, Joseph, Severi, Gianluca, Jakszyn, Paula, Sanchez‐Perez, Maria Jose, Amiano, Pilar, Colorado‐Yohar, Sandra M., Guevara, Marcela, van Guelpen, Bethany, Aglago, Elom K., Heath, Alicia K., Smith‐Byrne, Karl, Weiderpass, Elisabete, Aleksandrova, Krasimira

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A core outcome set for future endometriosis research: an international consensus development study von Duffy, JMN, Hirsch, M, Vercoe, M, Abbott, J, Barker, C, Collura, B, Drake, R, Evers, JLH, Hickey, M, Horne, AW, Hull, ML, Kolekar, S, Lensen, S, Johnson, NP, Mahajan, V, Mol, BW, Otter, A‐S, Puscasiu, L, Rodriguez, MB, Rombauts, L, Vail, A, Wang, R, Farquhar, CM, Daniels, Jane P, Lim, Arianne C, Edmonds, Katie, MacLean, Claire E, Appleton, Amy C, Skelton, Sarah, Byrne, Dominic L, White, Rebecca K, Sardo, Margarida, Fowles, Rebecca C, Ata, Baris, Richatd, Sarah A, Puig Ybanez, Casandra C, Peterson, Matthew C, Elms, Jasmin L, Parks, Ann, De Bie Rocks, Bianca L F, Roe, Jodie C, Doran, Ruby, Ceccaroni, Marcello, Ferreira, Ceu A, Dias, Sofia, Pinnington, Tracey, Laupa‐Santiago, Paula, Turner, Marie C, Schreurs, Anneke M F, Baggot, Eleanor, Socolov, Razvan V, Yossry, Menem, Hodges, Tania M, Barbossa, Marina W P, Mures, Târgu, Lytwyn, Tracy L, Egan‐Reid, Sophia E L, Devlin, Susanna C L, Crees, Kira S, Baldwin, Bethany C, Scott, James R, Gravolin, Amy K, Chapman, Errin F, Bartley, Stephanie N, Hamilton, Alicia J, Thorpe, Kirstie J, Carmody, Denise M, Eyeson, Joanna, Davis, Madeleine D, Henry, Jo, Armour, Mike, Cummings, Presley Y F V, Cook, Lisa A

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