Volume 96; Issue 3

The American Journal of Human Genetics

Volume 96; Issue 3

1

Complex History of Admixture between Modern Humans and Neandertals

Vernot, Benjamin, Akey, Joshua M.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 344 KB

english, 2015

2

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Garbes, Lutz, Kim, Kyungho, Rieß, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lind

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.25 MB

english, 2015

3

Selection and Reduced Population Size Cannot Explain Higher Amounts of Neandertal Ancestry in East Asian than in European Human Populations

Kim, Bernard Y., Lohmueller, Kirk E.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1017 KB

english, 2015

4

Dominance Genetic Variation Contributes Little to the Missing Heritability for Human Complex Traits

Zhu, Zhihong, Bakshi, Andrew, Vinkhuyzen, Anna A.E., Hemani, Gibran, Lee, Sang Hong, Nolte, Ilja M., van Vliet-Ostaptchouk, Jana V., Snieder, Harold, Esko, Tonu, Milani, Lili, Mägi, Reedik, Metspalu,

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 968 KB

english, 2015

5

Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Lin, Zhimiao, Zhao, Jiahui, Nitoiu, Daniela, Scott, Claire A., Plagnol, Vincent, Smith, Frances J.D., Wilson, Neil J., Cole, Christian, Schwartz, Mary E., McLean, W.H. Irwin, Wang, Huijun, Feng, Cheng

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.21 MB

english, 2015

6

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

Rauch, Frank, Fahiminiya, Somayyeh, Majewski, Jacek, Carrot-Zhang, Jian, Boudko, Sergei, Glorieux, Francis, Mort, John S., Bächinger, Hans-Peter, Moffatt, Pierre

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 994 KB

english, 2015

7

Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

Iqbal, Zafar, Willemsen, Marjolein H., Papon, Marie-Amélie, Musante, Luciana, Benevento, Marco, Hu, Hao, Venselaar, Hanka, Wissink-Lindhout, Willemijn M., Vulto-van Silfhout, Anneke T., Vissers, Lisen

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.17 MB

english, 2015

8

Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

Leslie, Elizabeth J., Taub, Margaret A., Liu, Huan, Steinberg, Karyn Meltz, Koboldt, Daniel C., Zhang, Qunyuan, Carlson, Jenna C., Hetmanski, Jacqueline B., Wang, Hang, Larson, David E., Fulton, Rober

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.70 MB

english, 2015

9

Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesc

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.60 MB

english, 2015

10

2014 Curt Stern Award Introduction: Gonçalo Abecasis1

Boehnke, Michael

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 273 KB

english, 2015

11

A Somatic MAP3K3 Mutation Is Associated with Verrucous Venous Malformation

Couto, Javier A., Vivero, Matthew P., Kozakewich, Harry P.W., Taghinia, Amir H., Mulliken, John B., Warman, Matthew L., Greene, Arin K.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.48 MB

english, 2015

12

2014 ASHG Awards and Addresses

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 61 KB

english, 2015

13

2014 William Allan Award: A Hematologist’s Pursuit of Hemoglobin Genetics1

Orkin, Stuart H.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

14

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 46 KB

english, 2015

15

2014 William Allan Award Introduction: Stuart Orkin1

Kazazian, Haig H.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 231 KB

english, 2015

16

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 47 KB

english, 2015

17

2014 Victor A. McKusick Leadership Award1

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 243 KB

english, 2015

18

2014 Curt Stern Award: A Tryst with Genetics1

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 274 KB

english, 2015

19

2014 Curt Stern Award Introduction: Mark Daly1

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 259 KB

english, 2015

20

2014 Victor A. McKusick Leadership Award Introduction: David Valle1

McInnes, Roderick R.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 331 KB

english, 2015

21

2014 Presidential Address: The Time of Our Lives1

Morton, Cynthia Casson

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 361 KB

english, 2015

22

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian,

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 876 KB

english, 2015

23

Characterization of Large Structural Genetic Mosaicism in Human Autosomes

Machiela, Mitchell J., Zhou, Weiyin, Sampson, Joshua N., Dean, Michael C., Jacobs, Kevin B., Black, Amanda, Brinton, Louise A., Chang, I-Shou, Chen, Chu, Chen, Constance, Chen, Kexin, Cook, Linda S.,

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.21 MB

english, 2015

24

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgre

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 891 KB

english, 2015

25

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Arboleda, Valerie A., Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A., Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M. Carrie, Qu

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 770 KB

english, 2015

26

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

Bras, Jose, Alonso, Isabel, Barbot, Clara, Costa, Maria Manuela, Darwent, Lee, Orme, Tatiana, Sequeiros, Jorge, Hardy, John, Coutinho, Paula, Guerreiro, Rita

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 306 KB

english, 2015

27

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Synofzik, Matthis, Haack, Tobias B., Kopajtich, Robert, Gorza, Matteo, Rapaport, Doron, Greiner, Markus, Schönfeld, Caroline, Freiberg, Clemens, Schorr, Stefan, Holl, Reinhard W., Gonzalez, Michael A.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 48 KB

english, 2015

28

2014 Curt Stern Award: Adventures in Human Genetics1

Abecasis, Gonçalo R.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 238 KB

english, 2015

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