An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals von Lazarin, Gabriel A., Haque, Imran S., Nazareth, Shivani, Iori, Kevin, Patterson, A. Scott, Jacobson, Jessica L., Marshall, John R., Seltzer, William K., Patrizio, Pasquale, Evans, Eric A., Srinivasan, Balaji S.

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The spectrum of SCNIA-related infantile epileptic encephalopathies von HARKIN, Louise A, MCMAHON, Jacinta M, CONNOLLY, Mary, STANLEY, Thorsten, HARBORD, Michael, ANDERMANN, Frederick, JING WANG, DEV BATISH, Sat, JONES, Jeffrey G, SELTZER, William K, GARDNER, Alison, SUTHERLAND, Grant, IONA, Xenia, BERKOVIC, Samuel F, MULLEY, John C, SCHEFFER, Ingrid E, DIBBENS, Leanne, PELEKANOS, James T, ZUBERI, Sameer M, SADLEIR, Lynette G, ANDERMANN, Eva, GILL, Deepak, FARRELL, Kevin

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SCA2 may present as levodopa-responsive parkinsonism von Payami, Haydeh, Nutt, John, Gancher, Steven, Bird, Thomas, McNeal, Melissa Gonzales, Seltzer, William K., Hussey, Jennifer, Lockhart, Paul, Gwinn-Hardy, Katrina, Singleton, Amanda A., Singleton, Andrew B., Hardy, John, Farrer, Matthew

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Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12 von Margolis, Russell L, Holmes, Susan E, O'Hearn, Elizabeth E, McInnis, Melvin G, Gorelick-Feldman, Daniel A, Kleiderlein, John J, Callahan, Colleen, Kwak, Noeun G, Ingersoll-Ashworth, Roxann G, Sherr, Meeia, Sumner, August J, Sharp, Alan H, Ananth, Uma, Seltzer, William K, Boss, Michael A, Vieria-Saecker, Ana-Maria, Epplen, Jörg T, Riess, Olaf, Ross, Christopher A

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Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease von Garcia-Gonzalez, Miguel A., Jones, Jeffrey G., Allen, Susan K., Palatucci, Christopher M., Batish, Sat D., Seltzer, William K., Lan, Zheng, Allen, Erica, Qian, Feng, Lens, Xose M., Pei, York, Germino, Gregory G., Watnick, Terry J.

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A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort von Putcha, Girish V, Bejjani, Bassem A, Bleoo, Stacey, Booker, Jessica K, Carey, John C, Carson, Nancy, Das, Soma, Dempsey, Melissa A, Gastier-Foster, Julie M, Greinwald, Jr, John H, Hoffmann, Marcy L, Jeng, Linda Jo Bone, Kenna, Margaret A, Khababa, Ishrag, Lilley, Margaret, Mao, Rong, Muralidharan, Kasinathan, Otani, Iris M, Rehm, Heidi L, Schaefer, Fred, Seltzer, William K, Spector, Elaine B, Springer, Michelle A, Weck, Karen E, Wenstrup, Richard J, Withrow, Stacey, Wu, Bai-Lin, Zariwala, Maimoona A, Schrijver, Iris

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Huntington's disease-like 2 (HDL2) in North America and Japan von Margolis, Russell L., Holmes, Susan E., Rosenblatt, Adam, Gourley, Lisa, O'Hearn, Elizabeth, Ross, Christopher A., Seltzer, William K., Walker, Ruth H., Ashizawa, Tetsuo, Rasmussen, Astrid, Hayden, Michael, Almqvist, Elisabeth W., Harris, Juliette, Fahn, Stanley, MacDonald, Marcy E., Mysore, Jayalakshmi, Shimohata, Takayoshi, Tsuji, Shoji, Potter, Nicholas, Nakaso, Kazuhiro, Adachi, Yoshiki, Nakashima, Kenji, Bird, Thomas, Krause, Amanda, Greenstein, Penny

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Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia von IKEDA, Yoshio, DALTON, Joline C, SHOJI, Mikio, VINCENT, John B, DAY, John W, RANUM, Laura P. W, MOSELEY, Melinda L, GARDNER, Kathy L, BIRD, Thomas D, ASHIZAWA, Tetsuo, SELTZER, William K, PANDOLFO, Massimo, MILUNSKY, Aubrey, POTTER, Nicholas T

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An Empirical Estimate of Carrier Frequencies for 400+ Causal Mendelian Variants: Results From an Ethnically Diverse Clinical Sample of 23,453 Individuals von Lazarin, Gabriel A, Haque, Imran S, Nazareth, Shivani, Iori, Kevin, Patterson, A Scott, Jacobson, Jessica L, Marshall, John R, Seltzer, William K, Patrizio, Pasquale, Evans, Eric A, Srinivasan, Balaji S

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A Founder Mutation in Presenilin 1 Causing Early-Onset Alzheimer Disease in Unrelated Caribbean Hispanic Families von Athan, Eleni S, Williamson, Jennifer, Ciappa, Alejandra, Santana, Vincent, Romas, Stavra N, Lee, Joseph H, Rondon, Haydee, Lantigua, Rafael A, Medrano, Martin, Torres, Mayobanex, Arawaka, Shigeki, Rogaeva, Ekaterina, Song, You-Qiang, Sato, Christine, Kawarai, Toshitaka, Fafel, Kimberley C, Boss, Michael A, Seltzer, William K, Stern, Yaakov, St George-Hyslop, Peter, Tycko, Benjamin, Mayeux, Richard

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The spectrum of SCN1A-related infantile epileptic encephalopathies von Harkin, Louise A., McMahon, Jacinta M., Iona, Xenia, Dibbens, Leanne, Pelekanos, James T., Zuberi, Sameer M., Sadleir, Lynette G., Andermann, Eva, Gill, Deepak, Farrell, Kevin, Connolly, Mary, Stanley, Thorsten, Harbord, Michael, Andermann, Frederick, Wang, Jing, Batish, Sat Dev, Jones, Jeffrey G., Seltzer, William K., Gardner, Alison, Sutherland, Grant, Berkovic, Samuel F., Mulley, John C., Scheffer, Ingrid E.

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Demyelinating neuropathy in a patient with multiple sclerosis and genotypical HMSN-1 von Almsaddi, Malaz, Bertorini, Tulio E, Seltzer, William K

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Severe X-Linked Charcot-Marie-Tooth Neuropathy Due to New Mutations [G59R(G→C), W44X(G→A)] in the Connexin 32 Gene von Felice, Kevin J., Seltzer, William K.

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Fatal Infantile X-Linked Neuropathy von Sekul, Elizabeth, Carroll, James E., Yaghmai, Farivar, Armstrong, Dawna L., Seltzer, William K.

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ACMG recommendations for standards for interpretation of sequence variations von Kazazian, Haig H., Boehm, Corinne D., Seltzer, William K.

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Methods of detecting mutations associated with ataxia-ocular apraxia 2 (AOA2) von Jones, Jeffrey G, Nagan, Narasimhan, Braastad, Corey D, Zhu, Hui, Allen, Susan K, Batish, Sat Dev, Seltzer, William K

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Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisonsand Haplotype Analysis of 37 Families with Ataxia von Ikeda, Yoshio, Dalton, Joline C., Moseley, Melinda L., Gardner, Kathy L., Bird, Thomas D., Ashizawa, Tetsuo, Seltzer, William K., Pandolfo, Massimo, Milunsky, Aubrey, Potter, Nicholas T., Shoji, Mikio, Vincent, John B., Day, John W., Ranum, Laura P.W.

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FLUORESCENT MULTIPLEX LINKAGE ANALYSIS AND CARRIER DETECTION FOR DUCHENNE BECKER MUSCULAR-DYSTROPHY von SCHWARTZ, LS, TARLETON, J, POPOVICH, B, SELTZER, WK, HOFFMAN, EP

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Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy von SIMMONS, Z, THORNTON, C. A, SELTZER, W. K, RICHARDS, C. S

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Genetic analysis of hispanic individuals with cystic fibrosis von GREBE, T. A, SELTZER, W. K, HERNRIED, L. S, MURPHY, S, HARWOOD, I. R, ACCURSO, F. J, JAIN, K. D, DEMARCHI, J, SILVA, D. K, DOANE, W. W, GOZAL, D, RICHTER, S. F, BOWMAN, C. M, NORMAN, R. A, RHODES, S. N

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