Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions by Ungar, Wendy J., Hayeems, Robin Z., Marshall, Christian R., Gillespie, Meredith K., Szuto, Anna, Chisholm, Caitlin, James Stavropoulos, D., Huang, Lijia, Jarinova, Olga, Wu, Vercancy, Tsiplova, Kate, Lau, Lynnette, Lee, Whiwon, Venkataramanan, Viji, Sawyer, Sarah, Mendoza-Londono, Roberto, Somerville, Martin J., Boycott, Kym M.

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NSD1 mutations generate a genome-wide DNA methylation signature by Choufani, S, Cytrynbaum, C, Chung, B H Y, Turinsky, A L, Grafodatskaya, D, Chen, Y A, Cohen, A S A, Dupuis, L, Butcher, D T, Siu, M T, Luk, H M, Lo, I F M, Lam, S T S, Caluseriu, O, Stavropoulos, D J, Reardon, W, Mendoza-Londono, R, Brudno, M, Gibson, W T, Chitayat, D, Weksberg, R

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Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants by Siu, M T, Butcher, D T, Turinsky, A L, Cytrynbaum, C, Stavropoulos, D J, Walker, S, Caluseriu, O, Carter, M, Lou, Y, Nicolson, R, Georgiades, S, Szatmari, P, Anagnostou, E, Scherer, S W, Choufani, S, Brudno, M, Weksberg, R

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Developmental implications of genetic testing for physical indications by Baribeau, Danielle A, Hoang, Ny, Selvanayagam, Thanuja, Stavropoulos, D James, Costain, Gregory, Scherer, Stephen W, Vorstman, Jacob

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Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities by Noor, A., Bogatan, S., Watkins, N., Meschino, W.S., Stavropoulos, D.J.

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Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability by Heidari, Abolfazl, Tongsook, Chanakan, Najafipour, Reza, Musante, Luciana, Vasli, Nasim, Garshasbi, Masoud, Hu, Hao, Mittal, Kirti, McNaughton, Amy J M, Sritharan, Kumudesh, Hudson, Melissa, Stehr, Henning, Talebi, Saeid, Moradi, Mohammad, Darvish, Hossein, Arshad Rafiq, Muhammad, Mozhdehipanah, Hossein, Rashidinejad, Ali, Samiei, Shahram, Ghadami, Mohsen, Windpassinger, Christian, Gillessen-Kaesbach, Gabriele, Tzschach, Andreas, Ahmed, Iltaf, Mikhailov, Anna, Stavropoulos, D James, Carter, Melissa T, Keshavarz, Soraya, Ayub, Muhammad, Najmabadi, Hossein, Liu, Xudong, Ropers, Hans Hilger, Macheroux, Peter, Vincent, John B

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Probing invisible neutrino decay with KM3NeT/ORCA by Ambrosone, A., Ameli, F., Anghinolfi, M., Bailly-Salins, L., Baret, B., Benfenati, F., Biagi, S., Boumaaza, J., Bozza, C., Brânzaş, H., Brunner, J., Caiffi, B., Calvo, D., Cerisy, L., Chabab, M., Circella, M., Coleiro, A., Creusot, A., Cruz, A., Dallier, R., Darras, Y., De Benedittis, A., Donzaud, C., van Eeden, T., El Hedri, S., Espinosa, V., Filippini, F., Gatius Oliver, C., Geißelbrecht, N., Gialanella, L., Giorgio, E., Girardi, A., Gozzini, S. R., Graf, K., Guderian, D., Guillon, B., Gutiérrez, M., Haegel, L., Heijboer, A., Illuminati, G., James, C. W., Janezashvili, D., de Jong, M., de Jong, P., Kalekin, O., Kistauri, G., Kooijman, P., Lahmann, R., Lakhal, A., Lamoureux, M., Larosa, G., Lastoria, C., Lazo, A., Le Stum, S., Lehaut, G., Leonora, E., Maderer, L., Majumdar, J., Marinelli, A., Markou, C., Marzaioli, F., Mastrodicasa, M., Migneco, E., Morales-Gallegos, L., Moussa, A., Navas, S., Nicolau, C. A., Nkosi, B., Orlando, A., Papaleo, R., Pastor Gomez, E. J., Păun, A. M., Peña Martínez, S., Perrin-Terrin, M., Poirè, C., Popa, V., Pulvirenti, S., Quéméner, G., Real, D., Riccobene, G., Sanguineti, M., Schnabel, J., Seneca, J., Sgura, I., Shanidze, R., Sharma, A., Simonelli, A., Stellacci, S. M., Tavzarashvili, K., Tedjditi, H., Thakore, T., Thiersen, H., Tsourapis, V., Vannoye, G., Vasileiadis, G., Versari, F., Vivolo, D., de Wolf, E., Zegarelli, A., Zornoza, J. D.

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Astronomy potential of KM3NeT/ARCA by Albert, A., Alves Garre, S., Ameli, F., Andre, M., Androutsou, E., Ardid, M., Ardid, S., Bariego-Quintana, A., Becherini, Y., Benfenati, F., Biagi, S., Boettcher, M., Brânzaş, H., Breuhaus, M., Buis, E., Buompane, R., Carenini, F., Cartraud, T., Cerisy, L., Cocimano, R., Coelho, J. A. B., Coyle, P., Decoene, V., Del Burgo, R., Di Mauro, L. S., Di Palma, I., Díaz, A. F., Diego-Tortosa, D., Donzaud, C., Drouhin, D., Dvornický, R., Eberl, T., Eddymaoui, A., Filippini, F., Fusco, L. A., Gagliardini, S., Garcia Soto, A., Gialanella, L., Gibson, B. K., Giorgio, E., Goupilliere, D., Gozzini, S. R., Gracia, R., Guidi, C., Guillon, B., van Haren, H., Hennig, L., Hernández-Rey, J. J., de Jong, P., Jung, B. J., Kalaczyński, P., Katz, U. F., Kistauri, G., Kueviakoe, V., Kvatadze, R., Larosa, G., Lastoria, C., Lehaut, G., Lessing, N., Lindsey Clark, M., Majumdar, J., Mastroianni, S., Miccichè, S., Mitsou, M. L., Mollo, C. M., Morga, M., Ó Fearraigh, B., Paesani, D., Palacios González, J., Peña Martínez, S., Perrin-Terrin, M., Perronnel, J., Pestes, R., Popa, V., Pulvirenti, S., Quiroz-Rangel, C. A., Randazzo, N., Randriatoamanana, R., Rea, I. C., Real, D., Riccobene, G., Robinson, J., Šaina, A., Sánchez Losa, A., Sanfilippo, S., Sanguineti, M., Santonastaso, C., Seneca, J., Setter, B., Sgura, I., Shanidze, R., Simonelli, A., Smirnov, M. V., Trocmé, B., Tzamariudaki, E., Valer Melchor, A., Valsecchi, V., Vazquez de Sola, F., Zegarelli, A., Zywucka, N.

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Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays by Costain, Gregory, Lionel, Anath C, Merico, Daniele, Forsythe, Pamela, Russell, Kathryn, Lowther, Chelsea, Yuen, Tracy, Husted, Janice, Stavropoulos, Dimitri J, Speevak, Marsha, Chow, Eva W C, Marshall, Christian R, Scherer, Stephen W, Bassett, Anne S

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Atmospheric muons measured with the KM3NeT detectors in comparison with updated numeric predictions by Alves Garre, S., Ambrosone, A., Ameli, F., Andre, M., Bariego-Quintana, A., Pree, S. Basegmez du, Becherini, Y., Bendahman, M., Benfenati, F., Benhassi, M., Benoit, D. M., Bouta, M., Bouwhuis, M., Bretaudeau, F., Brunner, J., Bruno, R., Buompane, R., Calvo, D., Carenini, F., Carretero, V., Cartraud, T., Chadolias, M., Circella, M., Coniglione, R., Cuttone, G., Darras, Y., De Benedittis, A., Decoene, V., Del Burgo, R., Donzaud, C., Dornic, D., Drouhin, D., Eddymaoui, A., El Hedri, S., Ferrara, G., Franciotti, D., Fusco, L. A., Oliver, C. Gatius, Gialanella, L., Giorgio, E., Gracia, R., Graf, K., Haack, C., van Haren, H., Hennig, L., Jung, B. J., Kalekin, O., Kopper, C., Kouchner, A., Labalme, M., Lastoria, C., Lazo, A., Lehaut, G., Magnani, F., Majumdar, J., Marinelli, A., Marzaioli, F., Mastrodicasa, M., Migliozzi, P., Migneco, E., Morales-Gallegos, L., Moretti, G., Moussa, A., Muller, R., Nayerhoda, A., Fearraigh, B. Ó., Orlando, A., Oukacha, E., Paesani, D., González, J. Palacios, Parisi, V., Pastor Gomez, E. J., Păvălaş, G. E., Pelegris, I., Perrin-Terrin, M., Perronnel, J., Pestes, R., Poirè, C., Popa, V., Riccobene, G., Romanov, A., Samtleben, D. F. E., Losa, A. Sánchez, Santonastaso, C., Santonocito, D., Seneca, J., Shanidze, R., Šimkovic, F., Spurio, M., Trocmé, B., Tudorache, A., Tzamariudaki, E., Melchor, A. Valer, Valsecchi, V., Vannoye, G., de Sola, F. Vazquez, de Wolf, E., Yepes-Ramirez, H., Zavatarelli, S., Zúñiga, J.

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Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray by Hayeems, Robin Z, Bhawra, Jasmin, Tsiplova, Kate, Meyn, M Stephen, Monfared, Nasim, Bowdin, Sarah, Stavropoulos, D James, Marshall, Christian R, Basran, Raveen, Shuman, Cheryl, Ito, Shinya, Cohn, Iris, Hum, Courtney, Girdea, Marta, Brudno, Michael, Cohn, Ronald D, Scherer, Stephen W, Ungar, Wendy J

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Sensitivity to light sterile neutrino mixing parameters with KM3NeT/ORCA by Alves Garre, S., Ameli, F., Andre, M., Bendahman, M., Benfenati, F., van den Berg, A. M., Bertin, V., Bissinger, M., Boettcher, M., Bou Cabo, M., Bruno, R., Busto, J., Carretero, V., Chabab, M., Chen, A., Coleiro, A., Coniglione, R., Creusot, A., Dallier, R., Di Palma, I., Diego-Tortosa, D., Drouhin, D., Eberl, T., El Bojaddaini, I., Enzenhöfer, A., Espinosa, V., Fermani, P., Ferrara, G., Fusco, L. A., Gal, T., García Méndez, J., Garufi, F., Gatelet, Y., Gozzini, S. R., Gracia, R., Guderian, D., Guidi, C., Haefner, J., Hallmann, S., van Haren, H., Hofestädt, J., Huang, F., Idrissi Ibnsalih, W., James, C. W., de Jong, M., de Jong, P., Jung, B. J., Kadler, M., Kistauri, G., Lahmann, R., Leonardi, O., Leonora, E., Lincetto, M., Lipreau, T., Maderer, L., Marinelli, A., Markou, C., Marzaioli, F., Miele, G., Migliozzi, P., Moser, M., Muller, R., Navas, S., O’Sullivan, M., Palacios González, J., Papaleo, R., Pastore, C., Păun, A. M., Păvălaş, G. E., Pellegrino, C., Pestel, V., Pieterse, C., Pisanti, O., Poirè, C., Pontoriere, V., Pradier, T., Pühlhofer, G., Real, D., Riccobene, G., Romanov, A., Rovelli, A., Sanguineti, M., Santangelo, A., Schneider, M. F., Schutte, H. M., Seneca, J., Spurio, M., Stellacci, S. M., Tatone, F., Thakore, T., Tingay, S., Tsagkli, S., Tzamariudaki, E., Vasileiadis, G., Vivolo, D., Wilms, J., de Wolf, E., Zavatarelli, S., Zito, D., Zornoza, J. D.

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First observation of the cosmic ray shadow of the Moon and the Sun with KM3NeT/ORCA by Aly, Z., Anghinolfi, M., Ardid, M., Bagatelas, C., Baret, B., Benfenati, F., Berbee, E., Bertin, V., Cabo, M. Bou, Boumaaza, J., Bouwhuis, M., Bozza, C., Brânzaş, H., Bruijn, R., Brunner, J., Calvo, D., Castaldi, P., Chen, A., Circella, M., Darras, Y., De Martino, B., Dìaz, A. F., Domi, A., Dornic, D., Eff, M., Eijk, D. van, Bojaddaini, I. El, Enzenhöfer, A., Espinosa, V., Ferrara, G., Méndez, J. García, Soto, A. Garcia, Oliver, C. Gatius, Geißelbrecht, N., Gialanella, L., Giorgio, E., Girardi, A., Goos, I., Graf, K., Guidi, C., Guillon, B., Gutiérrez, M., Haegel, L., Heijboer, A., Ibnsalih, W. Idrissi, James, C. W., Kalekin, O., Lahmann, R., Lakhal, A., Larosa, G., Breton, R. Le, Stum, S. Le, Leonora, E., Liang, S., Maderer, L., Majumdar, J., Martin, L., Martínez-Mora, J. A., Martini, A., Mastrodicasa, M., Mastroianni, S., Melis, K. W., Migliozzi, P., Mollo, C. M., Moussa, A., Muller, R., Nauta, L., Fearraigh, B. Ó., Orlando, A., Papaleo, R., Pastor Gomez, E. J., Păun, A. M., Păvălaş, G. E., Pellegrino, C., Perrin-Terrin, M., Pisanti, O., Poirè, C., Popa, V., Randazzo, N., Real, D., Riccobene, G., Robinson, J., Romanov, A., Schnabel, J., Schutte, H. M., Sharma, A., Smirnov, M. V., Stavropoulos, D., Tavzarashvili, K., Tedjditi, H., Thiersen, H., Tsourapis, V., Versari, F., Viola, S., Warnhofer, H., Wilms, J., Yousfi, T., Zegarelli, A., Zúñiga, J., Zywucka, N.

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Combined sensitivity of JUNO and KM3NeT/ORCA to the neutrino mass ordering by Alves Garre, S., Ameli, F., Andre, M., Ardid, M., Ardid, S., Baret, B., Benfenati, F., van den Berg, A. M., Biagi, S., Boettcher, M., Boumaaza, J., Bouwhuis, M., Bozza, C., Brunner, J., Buompane, R., Caiffi, B., Calvo, D., Chau, N., Cherubini, S., Chiarusi, T., Cocimano, R., Coyle, P., De Martino, B., Díaz, A. F., Domi, A., Donzaud, C., Dornic, D., Eddyamoui, A., El Bojaddaini, I., Espinosa, V., Gal, T., García Méndez, J., Geißelbrecht, N., Grella, G., Guderian, D., Heijboer, A., Hennig, L., Hofestädt, J., de Jong, M., de Jong, P., Katz, U. F., Khan Chowdhury, N. R., van der Knaap, F., Kooijman, P., Kulikovskiy, V., Lamoureux, M., Lastoria, C., Le Breton, R., Leone, F., Levi, G., Lincetto, M., Maderer, L., Majumdar, J., Marinelli, A., Markou, C., Marzaioli, F., Miele, G., Migliozzi, P., Moser, M., Muller, R., Navas, S., O’Sullivan, M., Palacios González, J., Papaleo, R., Pieterse, C., Pisanti, O., Pradier, T., Pulvirenti, S., Randazzo, N., Razzaque, S., Reck, S., Salesa Greus, F., Sánchez Losa, A., Santonocito, D., Schnabel, J., Shanidze, R., Sharma, A., Thiersen, H., Tzamariudaki, E., Vivolo, D., de Wasseige, G., Wilms, J., de Wolf, E., Yousfi, T., Zavatarelli, S., Zegarelli, A., Zito, D., Zornoza, J. D., Zywucka, N., Cabrera, A., Doroshkevich, E. A., Dracos, M., Kampmann, P., Kouzakov, K., Lubsandorzhiev, B. K., Lubsandorzhiev, S. B., Meregaglia, A., Stankevich, K., Studenikin, A., Triossi, A.

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16q22.1 microdeletion and anticipatory guidance by Abdullah, Sarah, Helal, Mayada, Dupuis, Lucie, Stavropoulos, D. James, Louro, Pedro, Ramos, Lina, Mendoza‐Londono, Roberto

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Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity by Costain, Gregory, Walker, Susan, Marano, Maria, Veenma, Danielle, Snell, Meaghan, Curtis, Meredith, Luca, Stephanie, Buera, Jason, Arje, Danielle, Reuter, Miriam S, Thiruvahindrapuram, Bhooma, Trost, Brett, Sung, Wilson W L, Yuen, Ryan K C, Chitayat, David, Mendoza-Londono, Roberto, Stavropoulos, D James, Scherer, Stephen W, Marshall, Christian R, Cohn, Ronald D, Cohen, Eyal, Orkin, Julia, Meyn, M Stephen, Hayeems, Robin Z

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The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis by Stavropoulos, Dimitrios J., Bradshaw, Paul S., Li, Xiaobin, Pasic, Ivan, Truong, Kevin, Ikura, Mitsuhiko, Ungrin, Mark, Meyn, M. Stephen

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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder by Chaudhry, A., Noor, A., Degagne, B., Baker, K., Bok, L. A., Brady, A. F., Chitayat, D., Chung, B. H., Cytrynbaum, C., Dyment, D., Filges, I., Helm, B., Hutchison, H. T., Jeng, L. J. B., Laumonnier, F., Marshall, C. R., Menzel, M., Parkash, S., Parker, M. J., Raymond, L. F., Rideout, A. L., Roberts, W., Rupps, R., Schanze, I., Schrander-Stumpel, C. T. R. M., Speevak, M. D., Stavropoulos, D. J., Stevens, S. J. C., Thomas, E. R. A., Toutain, A., Vergano, S., Weksberg, R., Scherer, S. W., Vincent, J. B., Carter, M. T.

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Severe intellectual disability and autistic features associated with microduplication 2q23.1 by CHUNG, Brian Hy, MULLEGAMA, Sureni, JAMES STAVROPOULOS, D, ELSEA, Sarah H, MENDOZA-LONDONO, Roberto, MARSHALL, Christian R, LIONEL, Anath C, WEKSBERG, Rosanna, DUPUIS, Lucie, BRICK, Lauren, CHUMEI LI, SCHERER, Stephen W, ARADHYA, Swaroop

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Characterisation of the Hamamatsu photomultipliers for the KM3NeT Neutrino Telescope by Aiello, S., Akrame, S.E., Anassontzis, E. G., Anton, G., Ardid, M., Aublin, J., Avgitas, T., Bagatelas, C., Barbarino, G., Barrios-Martí, J., Berbee, E., Bertin, V., Biagioni, A., Biernoth, C., Bouwhuis, M., Bruijn, R., Buis, E., Buompane, R., Busto, J., Capone, A., Celli, S., Chabab, M., Cherubini, S., Chiarusi, T., Cocimano, R., Molla, M. Colomer, Coniglione, R., Coyle, P., Cuttone, G., D'Onofrio, A., Díaz, A.F., Domi, A., Donà, R., Dornic, D., Durocher, M., Eberl, T., Enzenhöfer, A., Fusco, L.A., Gal, T., Gauchery, S., Geißelsöder, S., Gozzini, S.R., Grasso, D., Heid, T., Hernández-Rey, J.J., Illuminati, G., Jongewaard, B., de Jong, M., de Jong, P., Kalaczyński, P., Katz, U.F., Kieft, G., Kreter, M., Kulikovskiy, V., Levi, G., Lotze, M., Martínez-Mora, J.A., Mele, R., Melis, K.W., Migliozzi, P., Migneco, E., Mijakowski, P., Morganti, M., Navas, S., Nicolau, C.A., Nielsen, C., Panagopoulos, V., Papalashvili, G., Papaleo, R., Păvălaş, G.E., Pellegrini, G., Pellegrino, C., Pérez Romero, J., Polydefki, G., Poma, G.E., Popa, V., Pulvirenti, S., Quinn, L., Randazzo, N., Razzaque, S., Resvanis, L., Riccobene, G., Salvadori, I., Sanguineti, M., Santangelo, A., Seneca, J., Sgura, I., Shanidze, R., Spurio, M., Steijger, J., Taiuti, M., Tayalati, Y., Tenllado, E., Trovato, A., Tzanetatos, D., Vallage, B., Volkert, M., Wilms, J., Zornoza, J.D., Zúñiga, J.

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