Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 7

Results: 13

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 707, doi. 10.1007/s00439-016-1665-7

By:

Shaheen, Ranad;
Han, Lu;
Faqeih, Eissa;
Ewida, Nour;
Alobeid, Eman;
Phizicky, Eric;
Alkuraya, Fowzan

Publication type:

Article

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

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 727, doi. 10.1007/s00439-016-1667-5

By:

Faber-Hammond, Joshua;
Brown, Kim

Publication type:

Article

FCGR3A and FCGR3B copy number variations are risk factors for sarcoidosis.

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 715, doi. 10.1007/s00439-016-1669-3

By:

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

Publication type:

Article

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 699, doi. 10.1007/s00439-016-1661-y

By:

Okur, Volkan;
Cho, Megan;
Henderson, Lindsay;
Retterer, Kyle;
Schneider, Michael;
Sattler, Shannon;
Niyazov, Dmitriy;
Azage, Meron;
Smith, Sharon;
Picker, Jonathan;
Lincoln, Sharyn;
Tarnopolsky, Mark;
Brady, Lauren;
Bjornsson, Hans;
Applegate, Carolyn;
Dameron, Amy;
Willaert, Rebecca;
Baskin, Berivan;
Juusola, Jane;
Chung, Wendy

Publication type:

Article

Assessing the genetic architecture of epithelial ovarian cancer histological subtypes.

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 741, doi. 10.1007/s00439-016-1663-9

By:

Cuellar-Partida, Gabriel;
Lu, Yi;
Dixon, Suzanne;
Fasching, Peter;
Hein, Alexander;
Burghaus, Stefanie;
Beckmann, Matthias;
Lambrechts, Diether;
Nieuwenhuysen, Els;
Vergote, Ignace;
Vanderstichele, Adriaan;
Doherty, Jennifer;
Rossing, Mary;
Chang-Claude, Jenny;
Rudolph, Anja;
Wang-Gohrke, Shan;
Goodman, Marc;
Bogdanova, Natalia;
Dörk, Thilo;
Dürst, Matthias

Publication type:

Article

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

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 685, doi. 10.1007/s00439-016-1666-6

By:

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

Publication type:

Article

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 757, doi. 10.1007/s00439-016-1668-4

By:

Labonne, Jonathan;
Lee, Kang-Han;
Iwase, Shigeki;
Kong, Il-Keun;
Diamond, Michael;
Layman, Lawrence;
Kim, Cheol-Hee;
Kim, Hyung-Goo

Publication type:

Article

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

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 773, doi. 10.1007/s00439-016-1671-9

By:

Anazi, Shams;
Shamseldin, Hanan;
AlNaqeb, Dhekra;
Abouelhoda, Mohamed;
Monies, Dorota;
Salih, Mustafa;
Al-Rubeaan, Khalid;
Alkuraya, Fowzan

Publication type:

Article

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

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 779, doi. 10.1007/s00439-016-1672-8

By:

Salnikova, Lyubov;
Khadzhieva, Maryam;
Kolobkov, Dmitry

Publication type:

Article

Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis.

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 797, doi. 10.1007/s00439-016-1673-7

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 827, doi. 10.1007/s00439-016-1674-6

By:

Brumpton, Ben;
Ferreira, Manuel

Publication type:

Article

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

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 813, doi. 10.1007/s00439-016-1676-4

By:

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

Publication type:

Article

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

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 675, doi. 10.1007/s00439-016-1659-5

By:

Kang, James;
Liu, Isabelle;
Wang, Marilene;
Srivatsan, Eri

Publication type:

Article