Volume 92; Issue 3

The American Journal of Human Genetics

Volume 92; Issue 3

1

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Vulto-van Silfhout, Anneke T., de Vries, Bert B.A., van Bon, Bregje W.M., Hoischen, Alexander, Ruiterkamp-Versteeg, Martina, Gilissen, Christian, Gao, Fangjian, van Zwam, Marloes, Harteveld, Cornelis

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 538 KB

english, 2013

2

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

Kunishima, Shinji, Okuno, Yusuke, Yoshida, Kenichi, Shiraishi, Yuichi, Sanada, Masashi, Muramatsu, Hideki, Chiba, Kenichi, Tanaka, Hiroko, Miyazaki, Koji, Sakai, Michio, Ohtake, Masatoshi, Kobayashi,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 980 KB

english, 2013

3

An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree

Mendez, Fernando L., Krahn, Thomas, Schrack, Bonnie, Krahn, Astrid-Maria, Veeramah, Krishna R., Woerner, August E., Fomine, Forka Leypey Mathew, Bradman, Neil, Thomas, Mark G., Karafet, Tatiana M., Ha

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 303 KB

english, 2013

4

Age-Dependent Association between Pulmonary Tuberculosis and Common TOX Variants in the 8q12–13 Linkage Region

Grant, Audrey V., El Baghdadi, Jamila, Sabri, Ayoub, El Azbaoui, Safa, Alaoui-Tahiri, Kebir, Abderrahmani Rhorfi, Ismail, Gharbaoui, Yasser, Abid, Ahmed, Benkirane, Majid, Raharimanga, Vaomalala, Rich

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 379 KB

english, 2013

5

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

Walne, Amanda J., Vulliamy, Tom, Kirwan, Michael, Plagnol, Vincent, Dokal, Inderjeet

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 372 KB

english, 2013

6

ADAMTS7 Cleavage and Vascular Smooth Muscle Cell Migration Is Affected by a Coronary-Artery-Disease-Associated Variant

Pu, Xiangyuan, Xiao, Qingzhong, Kiechl, Stefan, Chan, Kenneth, Ng, Fu Liang, Gor, Shivani, Poston, Robin N., Fang, Changcun, Patel, Ashish, Senver, Ece C., Shaw-Hawkins, Sue, Willeit, Johann, Liu, Chu

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.10 MB

english, 2013

7

A CpG Mutational Hotspot in a ONECUT Binding Site Accounts for the Prevalent Variant of Hemophilia B Leyden

Funnell, Alister P.W., Wilson, Michael D., Ballester, Benoit, Mak, Ka Sin, Burdach, Jon, Magan, Natisha, Pearson, Richard C.M., Lemaigre, Frederic P., Stowell, Kathryn M., Odom, Duncan T., Flicek, Pau

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 737 KB

english, 2013

8

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Radmanesh, Farid, Caglayan, Ahmet Okay, Silhavy, Jennifer L., Yilmaz, Cahide, Cantagrel, Vincent, Omar, Tarek, Rosti, Başak, Kaymakcalan, Hande, Gabriel, Stacey, Li, Mingfeng, Šestan, Nenad, Bilguvar,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 991 KB

english, 2013

9

Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

Grønskov, Karen, Dooley, Christopher M., Østergaard, Elsebet, Kelsh, Robert N., Hansen, Lars, Levesque, Mitchell P., Vilhelmsen, Kaj, Møllgård, Kjeld, Stemple, Derek L., Rosenberg, Thomas

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1013 KB

english, 2013

10

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jarlbrzkowski, Maria, Bearden, Carrie E., B

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 902 KB

english, 2013

11

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Beck, Jon, Poulter, Mark, Hensman, Davina, Rohrer, Jonathan D., Mahoney, Colin J., Adamson, Gary, Campbell, Tracy, Uphill, James, Borg, Aaron, Fratta, Pietro, Orrell, Richard W., Malaspina, Andrea, Ro

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 459 KB

english, 2013

12

2012 Introduction to the Curt Stern Award: Jay Shendure1

Eichler, Evan E.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 226 KB

english, 2013

13

Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia

Akizu, Naiara, Shembesh, Nuri M., Ben-Omran, Tawfeg, Bastaki, Laila, Al-Tawari, Asma, Zaki, Maha S., Koul, Roshan, Spencer, Emily, Rosti, Rasim Ozgur, Scott, Eric, Nickerson, Elizabeth, Gabriel, Stace

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 954 KB

english, 2013

14

2012 Curt Stern Award Address1

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.08 MB

english, 2013

15

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.16 MB

english, 2013

16

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

Zahrani, Fatema, Aldahmesh, Mohammed A., Alshammari, Muneera J., Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 596 KB

english, 2013

17

Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs

Chen, Xiaoli, Shen, Yiping, Zhang, Feng, Chiang, Colby, Pillalamarri, Vamsee, Blumenthal, Ian, Talkowski, Michael, Wu, Bai-Lin, Gusella, James F.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 400 KB

english, 2013

18

2012 William Allan Award Introduction: Uta Francke1

Özçelik, Tayfun

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 121 KB

english, 2013

19

Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease

Soong, Bing-Wen, Huang, Yen-Hua, Tsai, Pei-Chien, Huang, Chien-Chang, Pan, Hung-Chuan, Lu, Yi-Chun, Chien, Hsin-Ju, Liu, Tze-Tze, Chang, Ming-Hong, Lin, Kon-Ping, Tu, Pang-Hsien, Kao, Lung-Sen, Lee, Y

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.05 MB

english, 2013

20

2012 Presidential Address: The Scientist as a Citizen of the World1

King, Mary-Claire

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 148 KB

english, 2013

21

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

22

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

23

2012 ASHG Awards and Addresses

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

24

2012 William Allan Award: Adventures in Cytogenetics1

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1013 KB

english, 2013

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