Volume 95; Issue 4

The American Journal of Human Genetics

Volume 95; Issue 4

1

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

Shearer, A. Eliot, Eppsteiner, Robert W., Booth, Kevin T., Ephraim, Sean S., Gurrola, José, Simpson, Allen, Black-Ziegelbein, E. Ann, Joshi, Swati, Ravi, Harini, Giuffre, Angelica C., Happe, Scott, Hi

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 710 KB

english, 2014

2

Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease

Minikel, Eric Vallabh, Zerr, Inga, Collins, Steven J., Ponto, Claudia, Boyd, Alison, Klug, Genevieve, Karch, André, Kenny, Joanna, Collinge, John, Takada, Leonel T., Forner, Sven, Fong, Jamie C., Mead

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 794 KB

english, 2014

3

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.21 MB

english, 2014

4

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

5

Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region

Skibola, Christine F., Berndt, Sonja I., Vijai, Joseph, Conde, Lucia, Wang, Zhaoming, Yeager, Meredith, de Bakker, Paul I.W., Birmann, Brenda M., Vajdic, Claire M., Foo, Jia-Nee, Bracci, Paige M., Ver

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 4.59 MB

english, 2014

6

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

Campbell, Ian M., Stewart, Jonathan R., James, Regis A., Lupski, James R., Stankiewicz, Paweł, Olofsson, Peter, Shaw, Chad A.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 719 KB

english, 2014

7

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014

8

Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders

Brand, Harrison, Pillalamarri, Vamsee, Collins, Ryan L., Eggert, Stacey, O’Dushlaine, Colm, Braaten, Ellen B., Stone, Matthew R., Chambert, Kimberly, Doty, Nathan D., Hanscom, Carrie, Rosenfeld, Jill

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 437 KB

english, 2014

9

Effective Genetic-Risk Prediction Using Mixed Models

Golan, David, Rosset, Saharon

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 360 KB

english, 2014

10

Widespread Signals of Convergent Adaptation to High Altitude in Asia and America

Foll, Matthieu, Gaggiotti, Oscar E., Daub, Josephine T., Vatsiou, Alexandra, Excoffier, Laurent

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 17.28 MB

english, 2014

11

Genome-wide Scan of 29,141 African Americans Finds No Evidence of Directional Selection since Admixture

Bhatia, Gaurav, Tandon, Arti, Patterson, Nick, Aldrich, Melinda C., Ambrosone, Christine B., Amos, Christopher, Bandera, Elisa V., Berndt, Sonja I., Bernstein, Leslie, Blot, William J., Bock, Cathryn

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 292 KB

english, 2014

12

Biased Gene Conversion Skews Allele Frequencies in Human Populations, Increasing the Disease Burden of Recessive Alleles

Lachance, Joseph, Tishkoff, Sarah A.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.19 MB

english, 2014

13

Characteristics of Neutral and Deleterious Protein-Coding Variation among Individuals and Populations

Fu, Wenqing, Gittelman, Rachel M., Bamshad, Michael J., Akey, Joshua M.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 509 KB

english, 2014

14

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Aldinger, Kimberly A., Mosca, Stephen J., Tétreault, Martine, Dempsey, Jennifer C., Ishak, Gisele E., Hartley, Taila, Phelps, Ian G., Lamont, Ryan E., O’Day, Diana R., Basel, Donald, Gripp, Karen W.,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 53 KB

english, 2014

15

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Herrmann, David N., Horvath, Rita, Sowden, Janet E., Gonzalez, Michael, Sanchez-Mejias, Avencia, Guan, Zhuo, Whittaker, Roger G., Almodovar, Jorge L., Lane, Maria, Bansagi, Boglarka, Pyle, Angela, Boc

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 53 KB

english, 2014