Results : 76-100/113
Authors:
Zawistowski, Matthew
Gopalakrishnan, Shyam
Ding, Jun
Li, Yun
Zöllner, Sebastian
Citation: Zawistowski, Matthew et al., Extending Rare-Variant Testing Strategies: Analysis of Noncoding Sequence and Imputed Genotypes, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 604-617
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
Authors:
Moreno-De-Luca, Daniel
Consortium, SGENE
Mulle, , Jennifer G.
Simplex Collection Genetics Consortium,Simons
Ledbetter, David H.
Citation: Moreno-de-luca, Daniel et al., Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 618-630
Authors:
Shlien, Adam
Baskin, Berivan
Achatz, Maria Isabel W.
Stavropoulos, Dimitrios J.
Citation: Shlien, Adam et al., A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 631-642
Authors:
Rajadhyaksha, Anjali M.
Elemento, Olivier
Puffenberger, Erik G.
Schierberl, Kathryn C.
Higgins, Joseph J.
Citation: M. Rajadhyaksha, Anjali et al., Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 643-654
Authors:
Crosby, Andrew H.
Patel, Heema
Chioza, Barry A.
Proukakis, Christos
Citation: H. Crosby, Andrew et al., Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 655-660
Authors:
Glessner, Joseph T.
Bradfield, Jonathan P.
Wang, Kai
Takahashi, Nagahide
Grant, Struan F.A.
Citation: T. Glessner, Joseph et al., A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 661-666
Authors:
Kaufmann, Rami
Straussberg, Rachel
Mandel, Hanna
Fattal-Valevski, Aviva
Elpeleg, Orly
Citation: Kaufmann, Rami et al., Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 667-670
Authors:
Hamdan, Fadi F.
Daoud, Hussein
Rochefort, Daniel
Piton, Amélie
Michaud, Jacques L.
Citation: F. Hamdan, Fadi et al., De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language ImpairmentDe Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 671-678
Authors:
Sirmaci, Asli
Walsh, Tom
Akay, Hatice
Spiliopoulos, Michail
Tekin, Mustafa
Citation: Sirmaci, Asli et al., MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 679-686
Authors:
Wang, Hu
Li, Zhaohui
Wang, Jizheng
Sun, Kai
Fan, Yuxin
Citation: Wang, Hu et al., Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 687-693
Authors:
Birk, Efrat
Har-Zahav, Adi
Manzini, Chiara M.
Pasmanik-Chor, Metsada
Basel-Vanagaite, Lina
Citation: Birk, Efrat et al., SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 694-700
Authors:
Wang, Li
Guo, Dong-chuan
Cao, Jiumei
Gong, Limin
Milewicz, Dianna M.
Citation: Wang, Li et al., Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 701-707
Authors:
Tompson, Stuart W.
Bacino, Carlos A.
Safina, Nicole P.
Bober, Michael B.
Cohn, Daniel H.
Citation: W. Tompson, Stuart et al., Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 708-712
Authors:
Feldshtein, Maya
Elkrinawi, Suliman
Yerushalmi, Baruch
Marcus, Barak
Birk, Ohad S.
Citation: Feldshtein, Maya et al., Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 713-720
Authors:
Arnaud, Lionel
Saison, Carole
Helias, Virginie
Lucien, Nicole
Cartron, Jean-Pierre
Citation: Arnaud, Lionel et al., A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 721-727
Authors:
Li, Yun
Byrnes, Andrea E.
Li, Mingyao
Citation: Li, Yun et al., To Identify Associations with Rare Variants, Just WHaIT: Weighted Haplotype and Imputation-Based Tests, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 728-735
Authors:
Bungartz, Kathryn D.
Williamson, Robin E.
Citation: D. Bungartz, Kathryn et E. Williamson, Robin, This Month in The Journal, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 737-738
Authors:
Garber, Kathryn B.
Citation: B. Garber, Kathryn, This Month in Genetics, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 739-741
Authors:
DePristo, Mark A.
Citation: A. Depristo, Mark, The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 742-742
Authors:
Prakash, Siddharth K.
LeMaire, Scott A.
Guo, Dong-Chuan
Russell, Ludivine
Belmont, John W.
Citation: K. Prakash, Siddharth et al., Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 743-756
Authors:
Li, Yun
Laue, Kathrin
Temtamy, Samia
Aglan, Mona
Wollnik, Bernd
Citation: Li, Yun et al., Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 757-767
Authors:
Tian, Jing
Ling, Ling
Shboul, Mohammad
Lee, Hane
Reversade, Bruno
Citation: Tian, Jing et al., Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 768-778
Authors:
Ding, Jun
Gudjonsson, Johann E
Liang, Liming
Stuart, Philip E.
Abecasis, Gonçalo R.
Citation: Ding, Jun et al., Gene Expression in Skin and Lymphoblastoid Cells: Refined Statistical Method Reveals Extensive Overlap in cis-eQTL Signals, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 779-789
Authors:
Liu, Dajiang J.
Leal, Suzanne M.
Citation: J. Liu, Dajiang et M. Leal, Suzanne, Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 790-801
Authors:
Kloss-Brandstätter, Anita
Schäfer, Georg
Erhart, Gertraud
Hüttenhofer, Alexander
Kronenberg, Florian
Citation: Kloss-brandstätter, Anita et al., Somatic Mutations throughout the Entire Mitochondrial Genome Are Associated with Elevated PSA Levels in Prostate Cancer Patients, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 802-812