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1

Book reviews

Lucaites, John Louis, Hariman, Robert, Sutton, Jane, Bormann, Dennis, Lee, Ronald, Parry‐Giles, Trevor, Biesecker‐Mast, Susan L., Ono, Kent A., Bayer, Cherie L., Murphy, John M., Klumpp, James F., Dob

Journal:

Quarterly Journal of Speech

Year:

1996

Language:

english

File:

PDF, 2.37 MB

english, 1996

2

Information Avoidance Tendencies, Threat Management Resources, and Interest in Genetic Sequencing Feedback

Taber, Jennifer M., Klein, William M. P., Ferrer, Rebecca A., Lewis, Katie L., Harris, Peter R., Shepperd, James A., Biesecker, Leslie G.

Journal:

Annals of Behavioral Medicine

Year:

2015

Language:

english

File:

PDF, 188 KB

english, 2015

3

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Bush, Lynn W, Beck, Anita E, Biesecker, Leslie G, Evans, James P, Hamosh, Ada, Holm, Ingrid A, Martin, Christa L, Richards, C Sue, Rehm, Heidi L

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 96 KB

english, 2018

4

Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources

Agarwala, Richa, Biesecker, Leslie G., Tomlin, James F., Sch�ffer, Alejandro A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

5

Leiomyoblastoma: Behavior and prognosis

Walter Smithwick III, James L. Biesecker, Paul M. Leand

Journal:

Year:

1969

Language:

english

File:

PDF, 753 KB

english, 1969

6

Renal insufficiency in Williams syndrome

Leslie G. Biesecker, Dr. Renata Laxova, Aaron Friedman, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 310 KB

english, 1987

7

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

Heather M. McLaughlin, Reiko Sakaguchi, William Giblin, NIH Intramural Sequencing Center, Thomas E. Wilson, Leslie Biesecker, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Yi-Chung

Journal:

Year:

2012

Language:

english

File:

PDF, 426 KB

english, 2012

8

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

Jennifer J. Johnston, Jamie K. Teer, Praveen F. Cherukuri, Nancy F. Hansen, Stacie K. Loftus, Karen Chong, James C. Mullikin, Leslie G. Biesecker

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 304 KB

english, 2010

9

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

Heather M. McLaughlin, Reiko Sakaguchi, Cuiping Liu, Takao Igarashi, Davut Pehlivan, Kristine Chu, Ram Iyer, Pedro Cruz, Praveen F. Cherukuri, Nancy F. Hansen, James C. Mullikin, Leslie G. Biesecker,

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 728 KB

english, 2010

10

Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

Dan Hanson, Philip G. Murray, James O'Sullivan, Jill Urquhart, Sarah Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars Skae, Claire Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Di

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 784 KB

english, 2011

11

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate E. Chandler, Bronwyn Kerr,

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 538 KB

english, 2011

12

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 506 KB

english, 2012

13

Evolution of skin lesions in Proteus syndrome

James V. Twede, Joyce T. Turner, Leslie G. Biesecker, Thomas N. Darling

Journal:

Journal of the American Academy of Dermatology

Year:

2005

Language:

english

File:

PDF, 224 KB

english, 2005

14

Autosomal dominant transmission of the Pallister-Hall syndrome

Kathryn F. Topf, Gad B. Kletter, Robert P. Kelch, James A. Brunberg, Leslie G. Biesecker

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 916 KB

english, 1993

15

Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations

David Ng, Emma Spaulding, James C. Mullikin, Leslie G. Biesecker

Journal:

Atherosclerosis

Year:

2010

Language:

english

File:

PDF, 142 KB

english, 2010

16

Australian Crohn’s Antibiotic Study Opens New Horizons

Laura Gitlin, James Biesecker

Journal:

Gastroenterology

Year:

2007

Language:

english

File:

PDF, 76 KB

english, 2007

17

Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting

Teer, Jamie K, Johnston, Jennifer J, Anzick, Sarah L, Pineda, Marbin, Stone, Gary, Meltzer, Paul S, Mullikin, James C, Biesecker, Leslie G

Journal:

Year:

2013

Language:

english

File:

PDF, 879 KB

english, 2013

18

Reporting Genomic Sequencing Results to Ordering Clinicians

Green, Robert C., Lupski, James R., Biesecker, Leslie G.

Journal:

JAMA The Journal of the American Medical Association

Year:

2013

Language:

english

File:

PDF, 96 KB

english, 2013

19

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase ( AARS ) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

McLaughlin, Heather M., Sakaguchi, Reiko, Giblin, William, Wilson, Thomas E., Biesecker, Leslie, Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Lee, Yi-Chung, Kennerson, Marina,

Journal:

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

20

RARE CODING GENETIC VARIANTS AND CORONARY ARTERY CALCIUM IN THE CLINSEQTM STUDY

Vargas, Jose D., Chen, Marcus Y., Arai, Andrew E., Mullikin, James C., Bluemke, David A., Biesecker, Leslie G.

Journal:

Journal of the American College of Cardiology

Year:

2012

Language:

english

File:

PDF, 89 KB

english, 2012

21

Nonpharmacological Response in Hospitalized Children With Conduct Disorder

MALONE, RICHARD P., LUEBBERT, JAMES F., DELANEY, MARY ANNE, BIESECKER, KRISTA A., BLANEY, BRIDGET L., ROWAN, AMY B., CAMPBELL, MAGDA

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

1997

Language:

english

File:

PDF, 4.65 MB

english, 1997

22

Exploring concordance and discordance for return of incidental findings from clinical sequencing

Green, Robert C., Berg, Jonathan S., Berry, Gerard T., Biesecker, Leslie G., Dimmock, David P., Evans, James P., Grody, Wayne W., Hegde, Madhuri R., Kalia, Sarah, Korf, Bruce R., Krantz, Ian, McGuire,

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 222 KB

english, 2012

23

RARE VARIANTS IN SORT1 ASSOCIATE WITH CORONARY ARTERY CALCIUM IN THE CLINSEQ STUDY

Vargas, Jose D., Manichaikul, Ani W., Chen, Marcus, Arai, Andrew, Mullikin, James, Bluemke, David, Biesecker, Leslie

Journal:

Journal of the American College of Cardiology

Year:

2015

Language:

english

File:

PDF, 236 KB

english, 2015

24

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Wassif, Christopher A., Cross, Joanna L., Iben, James, Sanchez-Pulido, Luis, Cougnoux, Antony, Platt, Frances M., Ory, Daniel S., Ponting, Chris P., Bailey-Wilson, Joan E., Biesecker, Leslie G., Porte

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 1.59 MB

english, 2015

25

Comparative analysis of the locus control region of the rabbit β-like globin gene cluster: HS3 increases transient expression of an embryonic ε-globin gene

Hardison, Ross, Xu, Jia, Jackson, John, Mansberger, James, Selifonova, Olga, Grotch, Brent, Biesecker, Jessica, Petrykowska, Hania, Miller, Webb

Journal:

Nucleic Acids Research

Year:

1993

Language:

english

File:

PDF, 2.52 MB

english, 1993

26

Improved Fixation of Tissues with a Combination of Buffered Neutral Formalin and Mercuric Chloride

Biesecker, James L.

Journal:

Laboratory Medicine

Year:

1977

Language:

english

File:

PDF, 1.65 MB

english, 1977

27

Normal Neutrophil Function in Human Renal Allograft Recipients Receiving Minnesota Anti-Lymphoblast Globulin (MAG)

Hawley, Dean A., Miller, Greg A., Biesecker, James L.

Journal:

American Journal of Clinical Pathology

Year:

1981

Language:

english

File:

PDF, 465 KB

english, 1981

28

Determination of Alternate Pathway Complement Kinetics by Electron Spin Resonance Spectroscopy

Hawley, Dean A., Kleinhans, Frederick W., Biesecker, James L.

Journal:

American Journal of Clinical Pathology

Year:

1983

Language:

english

File:

PDF, 411 KB

english, 1983

29

CELLULAR AND HUMORAL IMMUNITY AFTER ALLOGENEIC TRANSPLANTATION IN THE RAT

Biesecker, James L.

Journal:

Transplantation Journal

Year:

1973

File:

PDF, 788 KB

1973

30

PRESENCE OF BOTH CELL-MEDIATED IMMUNITY AND SERUM-BLOCKING FACTORS IN RAT RENAL ALLOGRAFTS ???ENHANCED??? BY PASSIVE IMMUNIZATION

Stuart, Frank P., Fitch, Frank W., Rowley, Donald A., Biesecker, James L., Erik Hellstr??m, Karl, Hellstr??m, Ingegerd

Journal:

Transplantation Journal

Year:

1971

File:

PDF, 222 KB

1971

31

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening

Ng, David, Hong, Celine S., Singh, Larry N., Johnston, Jennifer J., Mullikin, James C., Biesecker, Leslie G.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 1.17 MB

english, 2016

32

Assessing the reproducibility of exome copy number variations predictions

Hong, Celine S., Singh, Larry N., Mullikin, James C., Biesecker, Leslie G.

Journal:

Genome Medicine

Year:

2016

Language:

english

File:

PDF, 1.92 MB

english, 2016

33

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

Guan, Bin, Welch, James M., Sapp, Julie C., Ling, Hua, Li, Yulong, Johnston, Jennifer J., Kebebew, Electron, Biesecker, Leslie G., Simonds, William F., Marx, Stephen J., Agarwal, Sunita K.

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 900 KB

english, 2016

34

Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

Gonsalves, Stephen G., Ng, David, Johnston, Jennifer J., Teer, Jamie K., Stenson, Peter D., Cooper, David N., Mullikin, James C., Biesecker, Leslie G.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.15 MB

english, 2013

35

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome

Hamlington, Barbara, Ivey, Lauren E., Brenna, Ethan, Biesecker, Leslie G., Biesecker, Barbara B., Sapp, Julie C., Hejtmancik, James Fielding

Journal:

Year:

2015

Language:

english

File:

PDF, 194 KB

english, 2015

36

The Consensus from the Mycobacterium avium ssp. paratuberculosis (MAP) Conference 2017

Kuenstner, J. Todd, Naser, Saleh, Chamberlin, William, Borody, Thomas, Graham, David Y., McNees, Adrienne, Hermon-Taylor, John, Hermon-Taylor, Amy, Dow, C. Thomas, Thayer, Walter, Biesecker, James, Co

Journal:

Frontiers in Public Health

Year:

2017

Language:

english

File:

PDF, 166 KB

english, 2017