Color and pseudogap tunability in multicomponent carbonitrides von Dippo, Olivia F., Sangiovanni, Davide G., Wenger, Emma, Vecchio, Kenneth S.

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Synthesis and evaluation of rocksalt structure (Mo, W) carbides via vanadium additions von Kaufmann, Kevin, Wenger, Emma, Vecchio, Kenneth

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A comparative framework for understanding and addressing interpersonal gun violence von Lantz, Brendan, Wenger, Marin R., Fridel, Emma E., Knapp, Kyle G.

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Limited Progress in Improving Gender and Geographic Representation in Coral Reef Science von Ahmadia, Gabby N., Cheng, Samantha H., Andradi-Brown, Dominic A., Baez, Stacy K., Barnes, Megan D., Bennett, Nathan J., Campbell, Stuart J., Darling, Emily S., Estradivari, Gill, David, Gress, Erika, Gurney, Georgina G., Horigue, Vera, Jakub, Raymond, Kennedy, Emma V., Mahajan, Shauna L., Mangubhai, Sangeeta, Matsuda, Shayle B., Muthiga, Nyawira A., Navarro, Michael O., Santodomingo, Nadia, Vallès, Henri, Veverka, Laura, Villagomez, Angelo, Wenger, Amelia S., Wosu, Adaoma

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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder von Ammous, Zineb, Rawlins, Lettie E, Jones, Hannah, Leslie, Joseph S, Wenger, Olivia, Scott, Ethan, Deline, Jim, Herr, Tom, Evans, Rebecca, Scheid, Angela, Kennedy, Joanna, Chioza, Barry A, Ames, Ryan M, Cross, Harold E, Puffenberger, Erik G, Harries, Lorna, Baple, Emma L, Crosby, Andrew H

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Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series von Scott, Ethan M., Smith, Brandon, Liu, Joseph, Hoffman, Karlee, Hershberger, Jennifer, Crosby, Andew, Baple, Emma L., Wenger, Olivia K.

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Development of an rpS6-Based Ex Vivo Assay for the Analysis of Neuronal Activity in Mouse and Human Olfactory Systems von Broillet-Olivier, Emma, Wenger, Yaëlle, Gilliand, Noah, Cadas, Hugues, Sabatasso, Sara, Broillet, Marie-Christine, Brechbühl, Julien

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An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia von Rawlins, Lettie E, Jones, Hannah, Wenger, Olivia, Aye, Myat, Fasham, James, Harlalka, Gaurav V, Chioza, Barry A, Miron, Alexander, Ellard, Sian, Wakeling, Matthew, Crosby, Andrew H, Baple, Emma L

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A trait‐based framework for assessing the vulnerability of marine species to human impacts von Butt, Nathalie, Halpern, Benjamin S., O'Hara, Casey C., Allcock, A. Louise, Polidoro, Beth, Sherman, Samantha, Byrne, Maria, Birkeland, Charles, Dwyer, Ross G., Frazier, Melanie, Woodworth, Bradley K., Arango, Claudia P., Kingsford, Michael J., Udyawer, Vinay, Hutchings, Pat, Scanes, Elliot, McClaren, Emily Jane, Maxwell, Sara M., Diaz‐Pulido, Guillermo, Dugan, Emma, Simmons, Blake Alexander, Wenger, Amelia S., Linardich, Christi, Klein, Carissa J.

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Impact of Dissolved Oxygen during UV-Irradiation on the Chemical Composition and Function of CHO Cell Culture Media von Meunier, Sarah M, Todorovic, Biljana, Dare, Emma V, Begum, Afroza, Guillemette, Simon, Wenger, Andrew, Saxena, Priyanka, Campbell, J Larry, Sasges, Michael, Aucoin, Marc G

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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes von Levitin, Maria O, Rawlins, Lettie E, Sanchez-Andrade, Gabriela, Arshad, Osama A, Collins, Stephan C, Sawiak, Stephen J, Iffland, Phillip H, Andersson, Malin H L, Bupp, Caleb, Cambridge, Emma L, Coomber, Eve L, Ellis, Ian, Herkert, Johanna C, Ironfield, Holly, Jory, Logan, Kretz, Perrine F, Kant, Sarina G, Neaverson, Alexandra, Nibbeling, Esther, Rowley, Christine, Relton, Emily, Sanderson, Mark, Scott, Ethan M, Stewart, Helen, Shuen, Andrew Y, Schreiber, John, Tuck, Liz, Tonks, James, Terkelsen, Thorkild, van Ravenswaaij-Arts, Conny, Vasudevan, Pradeep, Wenger, Olivia, Wright, Michael, Day, Andrew, Hunter, Adam, Patel, Minal, Lelliott, Christopher J, Crino, Peter B, Yalcin, Binnaz, Crosby, Andrew H, Baple, Emma L, Logan, Darren W, Hurles, Matthew E, Gerety, Sebastian S

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Biallelic PI4KA variants cause neurological, intestinal and immunological disease von Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogli, Andrea, Zara, Federico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo P, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Ward Melver, Catherine, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew N, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Walsh Vockley, Catherine, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L

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Phenomenological analysis of patient experiences of medical student teaching encounters von McLachlan, Emma, King, Nigel, Wenger, Etienne, Dornan, Tim

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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies von Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei

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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency von Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.

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Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia von Wenger, Olivia, Brown, Miraides, Smith, Brandon, Chowdhury, Devyani, Crosby, Andrew H., Baple, Emma L., Yoder, Mark, Laxen, William, Tortorelli, Silvia, Strauss, Kevin A.

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Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B) von Lin, Siying, Sanchez-Bretaño, Aida, Leslie, Joseph S., Williams, Katie B., Lee, Helena, Thomas, N. Simon, Callaway, Jonathan, Deline, James, Ratnayaka, J. Arjuna, Baralle, Diana, Schmitt, Melanie A., Norman, Chelsea S., Hammond, Sheri, Harlalka, Gaurav V., Ennis, Sarah, Cross, Harold E., Wenger, Olivia, Crosby, Andrew H., Baple, Emma L., Self, Jay E.

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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections von Mis, Emily K., Brodsky, Nina N., Ionita, Cristian, Darbinyan, Armine, Drummond-Borg, Margaret, McGee, Elisabeth, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Sapp, Katie, McKee, Shane, Rea, Gillian, Cooper, Nicola, O’Driscoll, Mary, Scurr, Ingrid, Abbs, Steve, Armstrong, Ruth, Raymond, Lucy, Green, Andrew, Cleary, Elaine, Lampe, Anne, Castle, Bruce, Loughlin, Sam, Izatt, Louise, Roworth, Wendy, Yau, Shu, Jewell, Rosalyn, Sarkar, Ajoy, Canham, Natalie, Burkitt-Wright, Emma, Jones, Elizabeth, Smith, Audrey, Wright, Ronnie, Henderson, Alex, Allen, Zoe, Bernhard, Birgitta, Busby, Louise, Clowes, Virginia, Blair, Edward, Stewart, Alison, Kamath, Arveen, Halai, D., Holman, J.E., Jackson, R., Lopez, F.J., Rogers, T., Savage, K., Sieghart, A., Thomas, E.R.A., Thompson, S.R., Tucci, A., Alejandro, Mercedes E., Amendola, Laura, Andrews, Ashley, Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bamshad, Michael, Bayrak-Toydemir, Pinar, Botto, Lorenzo, Coakley, Terra R., Coggins, Matthew, Cooper, Cynthia M., Cunningham, Michael, Dai, Hongzheng, Duncan, Laura, Fieg, Elizabeth L., Forghani, Irman, Hahn, Sihoun, Hanchard, Neil A., Hayes, Nichole, High, Frances, Hisama, Fuki M., Holm, Ingrid A., Jamal, Fariha, Kennedy, Jennifer, LeBlanc, Kimberly, Macnamara, Ellen F., Maduro, Valerie V., Mak, Bryan, McCauley, Jacob, McGee, Elisabeth, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Pace, Laura, Potocki, Lorraine, Quinlan, Aaron, Raja, Archana N., Robertson, Amy K., Rodan, Lance H., Saporta, Mario, Schaechter, Judy, Signer, Rebecca, Solem, Emily, Solnica-Krezel, Lilianna, Sutton, Shirley, Velinder, Matt, Wheeler, Matthew T., Khokha, Mustafa K.

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Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities von Leslie, Joseph S., Hjeij, Rim, Vivante, Asaf, Bearce, Elizabeth A., Dyer, Laura, Wang, Jiaolong, Rawlins, Lettie, Kennedy, Joanna, Ubeyratna, Nishanka, Fasham, James, Irons, Zoe H., Craig, Samuel B., Koenig, Julia, George, Sebastian, Pode-Shakked, Ben, Bolkier, Yoav, Barel, Ortal, Mane, Shrikant, Frederiksen, Kathrine K., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Lorentzen, Esben, Norris, Dominic P., Anikster, Yair, Omran, Heymut, Grimes, Daniel T., Crosby, Andrew H., Baple, Emma L.

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Newborn Screening for Krabbe Disease: the New York State Model von Duffner, Patricia K., MD, Caggana, Michele, ScD, Orsini, Joseph J., PhD, Wenger, David A., PhD, Patterson, Marc C., MD, Crosley, Carl J., MD, Kurtzberg, Joanne, MD, Arnold, Georgianne L., MD, Escolar, Maria L., MD, Adams, Darius J., MD, Andriola, Mary R., MD, Aron, Alan M., MD, Ciafaloni, Emma, MD, Djukic, Alexandra, MD, Erbe, Richard W., MD, Galvin-Parton, Patricia, MD, Helton, Laura E., MD, MPH, Kolodny, Edwin H., MD, Kosofsky, Barry E., MD, Kronn, David F., MD, Kwon, Jennifer M., MD, Levy, Paul A., MD, Miller-Horn, Jill, MD, Naidich, Thomas P., MD, Pellegrino, Joan E., MD, Provenzale, James M., MD, Rothman, Stanley J., MD, Wasserstein, Melissa P., MD

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