Volume 95; Issue 3

The American Journal of Human Genetics

Volume 95; Issue 3

1

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelin

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.65 MB

english, 2014

2

Mutations in FEZF1 Cause Kallmann Syndrome

Kotan, L. Damla, Hutchins, B. Ian, Ozkan, Yusuf, Demirel, Fatma, Stoner, Hudson, Cheng, Paul J., Esen, Ihsan, Gurbuz, Fatih, Bicakci, Y. Kenan, Mengen, Eda, Yuksel, Bilgin, Wray, Susan, Topaloglu, A.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 452 KB

english, 2014

3

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

4

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Acuna-Hidalgo, Rocio, Schanze, Denny, Kariminejad, Ariana, Nordgren, Ann, Kariminejad, Mohamad Hasan, Conner, Peter, Grigelioniene, Giedre, Nilsson, Daniel, Nordenskjöld, Magnus, Wedell, Anna, Freyer,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.59 MB

english, 2014

5

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

6

A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

Tamiya, Gen, Makino, Satoshi, Hayashi, Makiko, Abe, Akiko, Numakura, Chikahiko, Ueki, Masao, Tanaka, Atsushi, Ito, Chizuru, Toshimori, Kiyotaka, Ogawa, Nobuhiro, Terashima, Tomoya, Maegawa, Hiroshi, Y

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.04 MB

english, 2014

7

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., Gonzales, 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, 1.33 MB

english, 2014

8

Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants

Li, Xin, Battle, Alexis, Karczewski, Konrad J., Zappala, Zach, Knowles, David A., Smith, Kevin S., Kukurba, Kim R., Wu, Eric, Simon, Noah, Montgomery, Stephen B.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.77 MB

english, 2014

9

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Ale

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.65 MB

english, 2014

10

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

Petrof, Gabriela, Nanda, Arti, Howden, Jake, Takeichi, Takuya, McMillan, James R., Aristodemou, Sophia, Ozoemena, Linda, Liu, Lu, South, Andrew P., Pourreyron, Celine, Dafou, Dimitra, Proudfoot, Laura

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.09 MB

english, 2014

11

Gene-Environment Dependence Creates Spurious Gene-Environment Interaction

Dudbridge, Frank, Fletcher, Olivia

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 181 KB

english, 2014

12

Identification and Validation of Genetic Variants that Influence Transcription Factor and Cell Signaling Protein Levels

Hause, Ronald J., Stark, Amy L., Antao, Nirav N., Gorsic, Lidija K., Chung, Sophie H., Brown, Christopher D., Wong, Shan S., Gill, Daniel F., Myers, Jamie L., To, Lida Anita, White, Kevin P., Dolan, M

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 48 KB

english, 2014

13

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nich

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 3.21 MB

english, 2014