Volume 37; Issue 2

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Human Mutation
Volume 37; Issue 2

Human Mutation

Volume 37; Issue 2

1

Cover Image, Volume 37, Issue 2

Journal:

Year:

2016

File:

PDF, 408 KB

2016

2

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Zampieri, Stefania, Filocamo, Mirella, Pianta, Annalisa, Lualdi, Susanna, Gort, Laura, Coll, Maria Jose, Sinnott, Richard, Geberhiwot, Tarekegn, Bembi, Bruno, Dardis, Andrea

Journal:

Year:

2016

Language:

english

File:

PDF, 516 KB

english, 2016

3

Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population

Hughes, Erin E., Stevens, Colleen F., Saavedra-Matiz, Carlos A., Tavakoli, Norma P., Krein, Lea M., Parker, April, Zhang, Zhen, Maloney, Breanne, Vogel, Beth, DeCelie-Germana, Joan, Kier, Catherine, A

Journal:

Year:

2016

Language:

english

File:

PDF, 184 KB

english, 2016

4

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

Gu, Shen, Posey, Jennifer E., Yuan, Bo, Carvalho, Claudia M.B., Luk, H.M., Erikson, Kelly, Lo, Ivan F.M., Leung, Gordon K.C., Pickering, Curtis R., Chung, Brian H.Y., Lupski, James R.

Journal:

Year:

2016

Language:

english

File:

PDF, 576 KB

english, 2016

5

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

Liquori, Alessandro, Vaché, Christel, Baux, David, Blanchet, Catherine, Hamel, Christian, Malcolm, Sue, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise

Journal:

Year:

2016

Language:

english

File:

PDF, 1.23 MB

english, 2016

6

Issue Information

Journal:

Year:

2016

File:

PDF, 266 KB

2016

7

TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome

Shylo, Natalia A., Christopher, Kasey J., Iglesias, Alejandro, Daluiski, Aaron, Weatherbee, Scott D.

Journal:

Year:

2016

Language:

english

File:

PDF, 503 KB

english, 2016

8

A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia

Yang, Ying, Liu, Wei, Fang, Zhipeng, Shi, Juan, Che, Fengyu, He, Chunxia, Yao, Libo, Wang, Enduo, Wu, Yuanming

Journal:

Year:

2016

Language:

english

File:

PDF, 599 KB

english, 2016

9

Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides

Igreja, Susana, Clarke, Luka A., Botelho, Hugo M., Marques, Luís, Amaral, Margarida D.

Journal:

Year:

2016

Language:

english

File:

PDF, 696 KB

english, 2016

10

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nürnberg, Gudrun, Stern-Schneider, Gabi, Nürnberg, Peter, Karnati, Srikanth, Swan, Daniel, Fateen, Ekram, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I.,

Journal:

Year:

2016

Language:

english

File:

PDF, 634 KB

english, 2016

11

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury,

Journal:

Year:

2016

Language:

english

File:

PDF, 919 KB

english, 2016

12

A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function

Noël, Emily S., Momenah, Tarek S., Al-Dagriri, Khalid, Al-Suwaid, Abdulrahman, Al-Shahrani, Safar, Jiang, Hui, Willekers, Sven, Oostveen, Yara Y., Chocron, Sonja, Postma, Alex V., Bhuiyan, Zahurul A.,

Journal:

Year:

2016

Language:

english

File:

PDF, 559 KB

english, 2016

13

From Whole Gene Deletion to Point Mutations of EP300 -Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Negri, Gloria, Magini, Pamela, Milani, Donatella, Colapietro, Patrizia, Rusconi, Daniela, Scarano, Emanuela, Bonati, Maria Teresa, Priolo, Manuela, Crippa, Milena, Mazzanti, Laura, Wischmeijer, Anita,

Journal:

Year:

2016

Language:

english

File:

PDF, 515 KB

english, 2016

14

HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans

Yang, Deying, Peng, Yi, Ouzhuluobu,, Bianbazhuoma,, Cui, Chaoying, Bianba,, Wang, Liangbang, Xiang, Kun, He, Yaoxi, Zhang, Hui, Zhang, Xiaoming, Liu, Jiewei, Shi, Hong, Pan, Yongyue, Duojizhuoma,,

Journal:

Year:

2016

Language:

english

File:

PDF, 999 KB

english, 2016