Am. J. Hum. Genet.

ISSN	1537-6605
ISSN-L	0002-9297
IUID	c85b59c4344e4484a7aefd5db75fe804
Modified	2020-11-27T13:14:04.962Z
Created	2017-05-09T09:12:01.909Z

Year 2024

PubMed DOI Crossref

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.

Wallenius J, Kafantari E, Jhaveri E, ..., Ehrencrona H, Puschmann A

Am. J. Hum. Genet. 111 (1) 82-95 [2024-01-04; online 2023-11-29]

Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

Year 2022

PubMed DOI Crossref

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

Rosenhahn E, O'Brien TJ, Zaki MS, ..., Maroofian R, Platzer K

Am. J. Hum. Genet. 109 (8) 1421-1435 [2022-08-04; online 2022-07-12]

Clinical Genomics Stockholm [Service]

PubMed DOI Crossref

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.

Trpchevska N, Freidin MB, Broer L, ..., Williams FMK, Nagtegaal AP

Am. J. Hum. Genet. 109 (6) 1077-1091 [2022-05-12; online 2022-05-12]

NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2021

PubMed DOI Crossref

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

Fatima A, Hoeber J, Schuster J, ..., Klar J, Dahl N

Am. J. Hum. Genet. 108 (4) 739-748 [2021-04-01; online 2021-03-11]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

Year 2020

PubMed DOI Crossref

Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.

Li C, Stoma S, Lotta LA, ..., Langenberg C, Codd V

Am. J. Hum. Genet. 106 (3) 389-404 [2020-03-05; online 2020-02-27]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2019

PubMed DOI Crossref

Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

Ferreira MAR, Mathur R, Vonk JM, ..., Koppelman GH, Almqvist C

Am. J. Hum. Genet. 104 (4) 665-684 [2019-04-04; online 2019-03-28]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2018

PubMed DOI Crossref

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, ..., Gahl WA, Freeze HH

Am. J. Hum. Genet. 103 (4) 553-567 [2018-10-04; online 2018-10-06]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service]

PubMed DOI Crossref

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

Sung YJ, Winkler TW, de Las Fuentes L, ..., Rao DC, Chasman DI

Am. J. Hum. Genet. 102 (3) 375-400 [2018-03-01; online 2018-02-15]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2017

PubMed DOI Crossref

Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression.

Hauberg ME, Zhang W, Giambartolomei C, ..., Björkegren JLM, Roussos P

Am. J. Hum. Genet. 100 (6) 885-894 [2017-06-01; online 2017-05-25]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2016

PubMed DOI Crossref

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Kapferer-Seebacher I, Pepin M, Werner R, ..., Byers PH, Zschocke J

Am. J. Hum. Genet. 99 (5) 1005-1014 [2016-11-03; online 2016-10-18]

Clinical Genomics Stockholm [Service]

PubMed DOI Crossref

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

Haack TB, Ignatius E, Calvo-Garrido J, ..., Carroll CJ, Klopstock T

Am. J. Hum. Genet. 99 (3) 735-743 [2016-09-01; online 2016-08-23]

Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.

Mahajan A, Rodan AR, Le TH, ..., Morris AP, Franceschini N

Am. J. Hum. Genet. 99 (3) 636-646 [2016-09-01; online 2016-09-03]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Stessman HA, Willemsen MH, Fenckova M, ..., Eichler EE, Kleefstra T

Am. J. Hum. Genet. 98 (3) 541-552 [2016-03-03; online 2016-03-05]

Clinical Genomics Stockholm [Service]

Year 2015

PubMed DOI Crossref

Dominant Genetic Variation and Missing Heritability for Human Complex Traits: Insights from Twin versus Genome-wide Common SNP Models.

Chen X, Kuja-Halkola R, Rahman I, ..., Pedersen NL, Magnusson PK

Am. J. Hum. Genet. 97 (5) 708-714 [2015-11-05; online 2015-11-07]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

PubMed DOI Crossref

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Kishita Y, Pajak A, Bolar NA, ..., Okazaki Y, Wedell A

Am. J. Hum. Genet. 97 (5) 761-768 [2015-11-05; online 2015-11-03]

Clinical Genomics Stockholm NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

PubMed DOI Crossref

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

Ebarasi L, Ashraf S, Bierzynska A, ..., Hildebrandt F, Majumdar A

Am. J. Hum. Genet. 96 (1) 153-161 [2015-01-08; online 2015-01-06]

Genome Engineering Zebrafish

Year 2014

PubMed DOI Crossref

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Acuna-Hidalgo R, Schanze D, Kariminejad A, ..., Hoischen A, Zenker M

Am. J. Hum. Genet. 95 (3) 285-293 [2014-09-04; online 2014-08-26]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

PubMed DOI Crossref

Fine mapping seronegative and seropositive rheumatoid arthritis to shared and distinct HLA alleles by adjusting for the effects of heterogeneity.

Han B, Diogo D, Eyre S, ..., de Bakker PI, Raychaudhuri S

Am. J. Hum. Genet. 94 (4) 522-532 [2014-04-03; online 2014-03-20]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

Peyrard-Janvid M, Leslie EJ, Kousa YA, ..., Kere J, Schutte BC

Am. J. Hum. Genet. 94 (1) 23-32 [2014-01-02; online 2013-12-24]

Mutation Analysis Facility (MAF)

Year 2013

PubMed DOI Crossref

Inference of the genetic architecture underlying BMI and height with the use of 20,240 sibling pairs.

Hemani G, Yang J, Vinkhuyzen A, ..., Martin NG, Visscher PM

Am. J. Hum. Genet. 93 (5) 865-875 [2013-11-07; online 2013-10-31]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Meta-analysis of gene-level associations for rare variants based on single-variant statistics.

Hu Y, Berndt SI, Gustafsson S, ..., Ingelsson E, Lin D

Am. J. Hum. Genet. 93 (2) 236-248 [2013-08-08; online 2013-07-31]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2012

PubMed DOI Crossref

Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.

Ameur A, Enroth S, Johansson A, ..., Campbell H, Gyllensten U

Am. J. Hum. Genet. 90 (5) 809-820 [2012-05-04; online 2012-04-12]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

PubMed DOI Crossref

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Spiegel R, Pines O, Ta-Shma A, ..., Feuk L, Elpeleg O

Am. J. Hum. Genet. 90 (3) 518-523 [2012-03-09; online 2012-03-13]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

PubMed DOI Crossref

Forsberg LA, Rasi C, Razzaghian HR, ..., Absher D, Dumanski JP

Am. J. Hum. Genet. 90 (2) 217-228 [2012-02-10; online 2012-02-07]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

Year 2011

PubMed DOI Crossref

Blood pressure loci identified with a gene-centric array.

Johnson T, Gaunt TR, Newhouse SJ, ..., Caulfield MJ, Munroe PB

Am. J. Hum. Genet. 89 (6) 688-700 [2011-12-09; online 2011-11-22]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

PubMed DOI Crossref

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.

Bown MJ, Jones GT, Harrison SC, ..., Deloukas P, Samani NJ

Am. J. Hum. Genet. 89 (5) 619-627 [2011-11-11; online 2011-11-08]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

PubMed DOI Crossref

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

Bjursell MK, Blom HJ, Cayuela JA, ..., Lundeberg J, Wedell A

Am. J. Hum. Genet. 89 (4) 507-515 [2011-10-07; online 2011-10-04]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

PubMed DOI Crossref

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Palomares M, Delicado A, Mansilla E, ..., Hennekam RC, Lapunzina P

Am. J. Hum. Genet. 89 (2) 295-301 [2011-08-12; online 2011-08-02]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure