Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations von GONZALEZ, Kelly D, NOLTNER, Katie A, WEITZEL, Jeffrey N, BUZIN, Carolyn H, DONGQING GU, WEN-FONG, Cindy Y, NGUYEN, Vu Q, HAN, Jennifer H, LOWSTUTER, Katrina, LONGMATE, Jeffrey, SOMMER, Steve S

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Evidence for X-chromosomal schizophrenia associated with microRNA alterations von Feng, Jinong, Sun, Guihua, Yan, Jin, Noltner, Katie, Li, Wenyan, Buzin, Carolyn H, Longmate, Jeff, Heston, Leonard L, Rossi, John, Sommer, Steve S

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Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancer von Chen, Zhenbin, Feng, Jinong, Buzin, Carolyn H, Liu, Qiang, Weiss, Lawrence, Kernstine, Kemp, Somlo, George, Sommer, Steve S

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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events von Chen, Zhenbin, Feng, Jinong, Buzin, Carolyn H, Sommer, Steve S

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Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide von Buzin, Carolyn H., Feng, Jinong, Yan, Jin, Scaringe, William, Liu, Qiang, den Dunnen, Johan, Mendell, Jerry R., Sommer, Steve S.

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Conversion Analysis for Mutation Detection in MLH1 and MSH2 in Patients With Colorectal Cancer von Casey, Graham, Lindor, Noralane M, Papadopoulos, Nickolas, Thibodeau, Stephen N, Moskow, John, Steelman, Scott, Buzin, Carolyn H, Sommer, Steve S, Collins, Christine E, Butz, Malinda, Aronson, Melyssa, Gallinger, Steven, Barker, Melissa A, Young, Joanne P, Jass, Jeremy R, Hopper, John L, Diep, Anh, Bapat, Bharati, Salem, Michael, Seminara, Daniela, Haile, Robert, Colon Cancer Family Registry, for the

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Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy von Feng, Jinong, Yan, Jin, Buzin, Carolyn H, Towbin, Jeffrey A, Sommer, Steve S

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Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy von Feng, Jinong, Yan, Jin, Buzin, Carolyn H, Sommer, Steve S, Towbin, Jeffrey A

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Three‐tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD) von Yan, Jin, Feng, Jinong, Buzin, Carolyn H., Scaringe, William, Liu, Qiang, Mendell, Jerry R., Dunnen, Johan den, Sommer, Steve S.

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Comprehensive scanning of the ATM gene with DOVAM-S von Buzin, Carolyn H., Gatti, Richard A., Nguyen, Vu Q., Wen, Cindy Y., Mitui, Midori, Sanal, Ozden, Chen, Jie Sheng, Nozari, Guity, Mengos, April, Li, Xuemin, Fujimura, Frank, Sommer, Steve S.

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NextGen Sequencing of the complete mtDNA genome: 20% estimated positive cases among recent 117 patients von Buzin, Carolyn H., Neckelmann, Christian, Gasper, Melissa, Barba, Juliana O., Scaringe, William A., Sommer, Steve S.

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Reply to J. Tinat et al von Gonzalez, Kelly D.F., Buzin, Carolyn H., Weitzel, Jeffrey N., Sommer, Steve S.

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MitoDx: Massively parallel sequencing of the mitochondrial genome may diagnose mitochondrial disease without invasive biopsies von Sommer⁎, Steve S., Buzin, Carolyn H., Scaringe, William A., Lo, Hsin-Lung, Petersen, Charles E.

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Highly sensitive mutation screening by REF with low concentrations of urea: A blinded analysis of a 2-kb region of the p53 gene reveals two common haplotypes von Feng, Jinong, Buzin, Carolyn H., Tang, Shih-Huey E., Scaringe, William A., Sommer, Steve S.

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Induction of heat shock gene expression without heat shock by hepatocarcinogens and during hepatic regeneration in rat liver von Carr, B I, Huang, T H, Buzin, C H, Itakura, K

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ATM missense mutations are frequent inpatients with breast cancer von Sommer, Steve S, Jiang, Zefei, Feng, Jinong, Buzin, Carolyn H, Zheng, Jian, Longmate, Jeffrey, Jung, Mira, Moulds, Jefferson, Dritschilo, Anatoly

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Quantitative RT-PCR assays show Xist RNA levels are low in mouse female adult tissue, embryos and embryoid bodies von Buzin, C H, Mann, J R, Singer-Sam, J

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Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls von Sommer, Steve S., Buzin, Carolyn H., Jung, Mira, Zheng, Jian, Liu, Qiang, Jeong, Sook J., Moulds, Jefferson, Nguyen, Vu Q., Feng, Jinong, Bennett, William P., Dritschilo, Anatoly

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Absence of somatic ATM missense mutations in 58 mammary carcinomas von Feng, Jinong, Yan, Jin, Chen, Jiesheng, Schlake, Gudrun, Jiang, Zefei, Buzin, Carolyn H., Sommer, Steve S., Dritschilo, Anatoly

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Comprehensive scanning of theATM gene with DOVAM-S von Buzin, Carolyn H., Gatti, Richard A., Nguyen, Vu Q., Wen, Cindy Y., Mitui, Midori, Sanal, Ozden, Chen, Jie Sheng, Nozari, Guity, Mengos, April, Li, Xuemin, Fujimura, Frank, Sommer, Steve S.

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