Volume 135; Issue 7

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Human Genetics
Volume 135; Issue 7

Human Genetics

Volume 135; Issue 7

1

A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer

Kang, James J., Liu, Isabelle Y., Wang, Marilene B., Srivatsan, Eri S.

Journal:

Year:

2016

Language:

english

File:

PDF, 730 KB

english, 2016

2

De novo mutations inCSNK2A1are associated with neurodevelopmental abnormalities and dysmorphic features

Volkan Okur,Megan T. Cho,Lindsay Henderson,Kyle Retterer…

Journal:

Year:

2016

Language:

english

File:

PDF, 1.13 MB

english, 2016

3

Anchored pseudo-de novo assembly of human genomes identifies extensive sequence variation from unmapped sequence reads

Faber-Hammond, Joshua J., Brown, Kim H.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.47 MB

english, 2016

4

A homozygous truncating mutation inPUS3expands the role of tRNA modification in normal cognition

Shaheen, Ranad, Han, Lu, Faqeih, Eissa, Ewida, Nour, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 3.57 MB

english, 2016

5

Assessing the genetic architecture of epithelial ovarian cancer histological subtypes

Cuellar-Partida, Gabriel, Lu, Yi, Dixon, Suzanne C., Fasching, Peter A., Hein, Alexander, Burghaus, Stefanie, Beckmann, Matthias W., Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Vande

Journal:

Year:

2016

Language:

english

File:

PDF, 670 KB

english, 2016

6

FCGR3AandFCGR3Bcopy number variations are risk factors for sarcoidosis

Wu, Jianming, Li, Yunfang, Guan, Weihua, Viken, Kevin, Perlman, David M., Bhargava, Maneesh

Journal:

Year:

2016

Language:

english

File:

PDF, 548 KB

english, 2016

7

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylaseKDM2Band a histone methyltransferaseSETD1Bin syndromic intellectual disability

Labonne, Jonathan D. J., Lee, Kang-Han, Iwase, Shigeki, Kong, Il-Keun, Diamond, Michael P., Layman, Lawrence C., Kim, Cheol-Hee, Kim, Hyung-Goo

Journal:

Year:

2016

Language:

english

File:

PDF, 1.33 MB

english, 2016

8

Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids)

Salnikova, Lyubov E., Khadzhieva, Maryam B., Kolobkov, Dmitry S.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.87 MB

english, 2016

9

A null mutation in TNIK defines a novel locus for intellectual disability

Anazi, Shams, Shamseldin, Hanan E., AlNaqeb, Dhekra, Abouelhoda, Mohamed, Monies, Dorota, Salih, Mustafa A., Al-Rubeaan, Khalid, Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.40 MB

english, 2016

10

Multivariate eQTL mapping uncovers functional variation on the X-chromosome associated with complex disease traits

Brumpton, Ben M., Ferreira, Manuel A. R.

Journal:

Year:

2016

Language:

english

File:

PDF, 2.47 MB

english, 2016

11

Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy

Viggiano, Emanuela, Ergoli, Manuela, Picillo, Esther, Politano, Luisa

Journal:

Year:

2016

Language:

english

File:

PDF, 596 KB

english, 2016

12

Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis

Guan, Jinting, Yang, Ence, Yang, Jizhou, Zeng, Yong, Ji, Guoli, Cai, James J.

Journal:

Year:

2016

Language:

english

File:

PDF, 746 KB

english, 2016

13

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients

Jakubiczka-Smorag, Joanna, Santamaria-Araujo, Jose Angel, Metz, Imke, Kumar, Avadh, Hakroush, Samy, Brueck, Wolfgang, Schwarz, Guenter, Burfeind, Peter, Reiss, Jochen, Smorag, Lukasz

Journal:

Year:

2016

Language:

english

File:

PDF, 1.58 MB

english, 2016

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