Vaccination patterns of the northeast Ohio Amish revisited von Scott, Ethan M., Stein, Rachel, Brown, Miraides F., Hershberger, Jennifer, Scott, Elizabeth M., Wenger, Olivia K.

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Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier von Bowser, Lauren E., Young, Millie, Wenger, Olivia K., Ammous, Zineb, Brigatti, Karlla W., Carson, Vincent J., Moser, Teresa, Deline, James, Aoki, Kazuhiro, Morlet, Thierry, Scott, Ethan M., Puffenberger, Erik G., Robinson, Donna L., Hendrickson, Christine, Salvin, Jonathan, Gottlieb, Steven, Heaps, Adam D., Tiemeyer, Michael, Strauss, Kevin A.

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Evaluation of low immunization coverage among the Amish population in rural Ohio von Kettunen, Christine, PhD, MSN, RN, Nemecek, John, PhD, MBA, Wenger, Olivia, MD

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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease von Williams, Katie B, Brigatti, Karlla W, Puffenberger, Erik G, Gonzaga-Jauregui, Claudia, Griffin, Laurie B, Martinez, Erick D, Wenger, Olivia K, Yoder, Mark A, Kandula, Vinay V R, Fox, Michael D, Demczko, Matthew M, Poskitt, Laura, Furuya, Katryn N, Reid, Jeffrey G, Overton, John D, Baras, Aris, Miles, Lili, Radhakrishnan, Kadakkal, Carson, Vincent J, Antonellis, Anthony, Jinks, Robert N, Strauss, Kevin A

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Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia von Scott, Ethan M., Chandra, Sharat, Li, Jinzhu, Robinette, Eric D., Brown, Miraides F., Wenger, Olivia K.

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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 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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Underimmunization in Ohio's Amish: Parental Fears Are a Greater Obstacle Than Access to Care von WENGER, Olivia K, MCMANUS, Mark D, BOWER, John R, LANGKAMP, Diane L

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Natural history of propionic acidemia in the Amish population von Ehrenberg, Sarah, Walsh Vockley, Catherine, Heiman, Paige, Ammous, Zineb, Wenger, Olivia, Vockley, Jerry, Ghaloul-Gonzalez, Lina

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Glycogen storage disease type 1a in the Ohio Amish von Scott, Ethan M., Wenger, Olivia K., Robinson, Elizabeth, Colling, Kristina, Brown, Miraides F., Hershberger, Jennifer, Radhakrishnan, Kadakkal

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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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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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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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Microcephaly, Hypotonia, and Intracranial Calcifications in an 11-Week-Old Boy von Aikman, Inga, Makowski, Kristen, Wenger, Olivia, Rossman, Ian, Solomon, Jeffrey D.

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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, Melver, Catherine Ward, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew N., Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Vockley, Catherine Walsh, 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, Baple, Emma L.

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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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Severity modeling of propionic acidemia using clinical and laboratory biomarkers von Shchelochkov, Oleg A., Manoli, Irini, Juneau, Paul, Sloan, Jennifer L., Ferry, Susan, Myles, Jennifer, Schoenfeld, Megan, Pass, Alexandra, McCoy, Samantha, Van Ryzin, Carol, Wenger, Olivia, Levin, Mark, Zein, Wadih, Huryn, Laryssa, Snow, Joseph, Chlebowski, Colby, Thurm, Audrey, Kopp, Jeffrey B., Chen, Kong Y., Venditti, Charles P.

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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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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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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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