Volume 102; Issue 2

The American Journal of Human Genetics

Volume 102; Issue 2

1

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

Guidugli, Lucia, Shimelis, Hermela, Masica, David L., Pankratz, Vernon S., Lipton, Gary B., Singh, Namit, Hu, Chunling, Monteiro, Alvaro N.A., Lindor, Noralane M., Goldgar, David E., Karchin, Rachel,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.56 MB

english, 2018

2

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Martinelli, Simone, Krumbach, Oliver H.F., Pantaleoni, Francesca, Coppola, Simona, Amin, Ehsan, Pannone, Luca, Nouri, Kazem, Farina, Luciapia, Dvorsky, Radovan, Lepri, Francesca, Buchholzer, Marcel, K

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.43 MB

english, 2018

3

Bible Says Israelites Didn't Exterminate Sidonians

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 110 KB

english, 2018

4

Response to Giem

Haber, Marc, Doumet-Serhal, Claude, Scheib, Christiana, Xue, Yali, Danecek, Petr, Mezzavilla, Massimo, Youhanna, Sonia, Martiniano, Rui, Prado-Martinez, Javier, Szpak, Michał, Matisoo-Smith, Elizabeth

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 105 KB

english, 2018

5

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

Drecourt, Anthony, Babdor, Joël, Dussiot, Michael, Petit, Floriane, Goudin, Nicolas, Garfa-Traoré, Meriem, Habarou, Florence, Bole-Feysot, Christine, Nitschké, Patrick, Ottolenghi, Chris, Metodiev, Me

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.29 MB

english, 2018

6

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome

Bozal-Basterra, Laura, Martín-Ruíz, Itziar, Pirone, Lucia, Liang, Yinwen, Sigurðsson, Jón Otti, Gonzalez-Santamarta, Maria, Giordano, Immacolata, Gabicagogeascoa, Estibaliz, de Luca, Angela, Rodríguez

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.55 MB

english, 2018

7

Biallelic Variants in CNPY3 , Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy

Mutoh, Hiroki, Kato, Mitsuhiro, Akita, Tenpei, Shibata, Takuma, Wakamoto, Hiroyuki, Ikeda, Hiroko, Kitaura, Hiroki, Aoto, Kazushi, Nakashima, Mitsuko, Wang, Tianying, Ohba, Chihiro, Miyatake, Satoko,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.89 MB

english, 2018

8

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome

Yin, Jiani, Chen, Wu, Chao, Eugene S., Soriano, Sirena, Wang, Li, Wang, Wei, Cummock, Steven E., Tao, Huifang, Pang, Kaifang, Liu, Zhandong, Pereira, Fred A., Samaco, Rodney C., Zoghbi, Huda Y., Xue,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.46 MB

english, 2018

9

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

Uddin, Mohammed, Unda, Brianna K., Kwan, Vickie, Holzapfel, Nicholas T., White, Sean H., Chalil, Leon, Woodbury-Smith, Marc, Ho, Karen S., Harward, Erin, Murtaza, Nadeem, Dave, Biren, Pellecchia, Giov

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.69 MB

english, 2018

10

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 45 KB

english, 2018

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