Volume 94; Issue 1

The American Journal of Human Genetics

Volume 94; Issue 1

1

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

He, Zongxiao, O’Roak, Brian J., Smith, Joshua D., Wang, Gao, Hooker, Stanley, Santos-Cortez, Regie Lyn P., Li, Biao, Kan, Mengyuan, Krumm, Nik, Nickerson, Deborah A., Shendure, Jay, Eichler, Evan E.,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 649 KB

english, 2014

2

Annotating DNA Variants Is the Next Major Goal for Human Genetics

Cutting, Garry R.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 246 KB

english, 2014

3

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Dusi, Sabrina, Valletta, Lorella, Haack, Tobias B., Tsuchiya, Yugo, Venco, Paola, Pasqualato, Sebastiano, Goffrini, Paola, Tigano, Marco, Demchenko, Nikita, Wieland, Thomas, Schwarzmayr, Thomas, Strom

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.08 MB

english, 2014

4

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Favaro, Francine P., Alvizi, Lucas, Zechi-Ceide, Roseli M., Bertola, Debora, Felix, Temis M., de Souza, Josiane, Raskin, Salmo, Twigg, Stephen R.F., Weiner, Andrea M.J., Armas, Pablo, Margarit, Ezequi

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.66 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, 47 KB

english, 2014

6

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

Ben Khelifa, Mariem, Coutton, Charles, Zouari, Raoudha, Karaouzène, Thomas, Rendu, John, Bidart, Marie, Yassine, Sandra, Pierre, Virginie, Delaroche, Julie, Hennebicq, Sylviane, Grunwald, Didier, Esca

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.21 MB

english, 2014

7

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Hoover-Fong, Julie, Sobreira, Nara, Jurgens, Julie, Modaff, Peggy, Blout, Carrie, Moser, Ann, Kim, Ok-Hwa, Cho, Tae-Joon, Cho, Sung Yoon, Kim, Sang Jin, Jin, Dong-Kyu, Kitoh, Hiroshi, Park, Woong-Yang

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 547 KB

english, 2014

8

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Ab

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.16 MB

english, 2014

9

Mutations in CSPP1 Lead to Classical Joubert Syndrome

Akizu, Naiara, Silhavy, Jennifer L., Rosti, Rasim Ozgur, Scott, Eric, Fenstermaker, Ali G., Schroth, Jana, Zaki, Maha S., Sanchez, Henry, Gupta, Neerja, Kabra, Madhulika, Kara, Majdi, Ben-Omran, Tawfe

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.27 MB

english, 2014

10

Reponse to de Leeuw and Houge

Arndt, Anne-Karin, MacRae, Calum A., Klaassen, Sabine

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 49 KB

english, 2014

11

Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

Shaheen, Ranad, Shamseldin, Hanan E., Loucks, Catrina M., Seidahmed, Mohammed Zain, Ansari, Shinu, Ibrahim Khalil, Mohamed, Al-Yacoub, Nadya, Davis, Erica E., Mola, Natalie A., Szymanska, Katarzyna, H

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 885 KB

english, 2014

12

Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome

de Leeuw, Nicole, Houge, Gunnar

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 60 KB

english, 2014

13

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

14

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Yamamoto, Guilherme L., Baratela, Wagner A.R., Almeida, Tatiana F., Lazar, Monize, Afonso, Clara L., Oyamada, Maria K., Suzuki, Lisa, Oliveira, Luiz A.N., Ramos, Ester S., Kim, Chong A., Passos-Bueno,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.16 MB

english, 2014

15

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

Peyrard-Janvid, Myriam, Leslie, Elizabeth J., Kousa, Youssef A., Smith, Tiffany L., Dunnwald, Martine, Magnusson, Måns, Lentz, Brian A., Unneberg, Per, Fransson, Ingegerd, Koillinen, Hannele K., Rauti

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 3.47 MB

english, 2014

16

Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

Rehman, Atteeq U., Santos-Cortez, Regie Lyn P., Morell, Robert J., Drummond, Meghan C., Ito, Taku, Lee, Kwanghyuk, Khan, Asma A., Basra, Muhammad Asim R., Wasif, Naveed, Ayub, Muhammad, Ali, Rana A.,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.49 MB

english, 2014

17

Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Günter, Wenzel, Jörg, Größer, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altm

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.83 MB

english, 2014

18

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patt

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

19

An APOA5 3′ UTR Variant Associated with Plasma Triglycerides Triggers APOA5 Downregulation by Creating a Functional miR-485-5p Binding Site

Caussy, Cyrielle, Charrière, Sybil, Marçais, Christophe, Di Filippo, Mathilde, Sassolas, Agnès, Delay, Mireille, Euthine, Vanessa, Jalabert, Audrey, Lefai, Etienne, Rome, Sophie, Moulin, Philippe

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 364 KB

english, 2014

20

Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis

Mayes, Maureen D., Bossini-Castillo, Lara, Gorlova, Olga, Martin, José Ezequiel, Zhou, Xiaodong, Chen, Wei V., Assassi, Shervin, Ying, Jun, Tan, Filemon K., Arnett, Frank C., Reveille, John D., Guerra

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.44 MB

english, 2014