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American Journal of Human Genetics
Papers 18231
1 page of 1,824 pages (18.2k results)
Published on Jul 18, 2019in American Journal of Human Genetics 9.92
Linda M. Reis18
Estimated H-index: 18
(Children's Hospital of Wisconsin),
Elena Sorokina9
Estimated H-index: 9
(Children's Hospital of Wisconsin)
+ 5 AuthorsElena V. Semina34
Estimated H-index: 34
(Children's Hospital of Wisconsin)
While genetic causes are known for many syndromes involving developmental anomalies, a large number of individuals with overlapping phenotypes remain undiagnosed. Using exome-sequencing analysis and review of matchmaker databases, we have discovered four de novo missense variants predicted to affect the N-terminal region of WDR37—p.Ser119Phe, p.Thr125Ile, p.Ser129Cys, and p.Thr130Ile—in unrelated individuals with a previously unrecognized syndrome. Features of WDR37 syndrome include the followin...
Published in American Journal of Human Genetics 9.92
Clara van Karnebeek17
Estimated H-index: 17
Rúben J.J. Ramos2
Estimated H-index: 2
(UU: Utrecht University)
+ -3 AuthorsRobin van der Lee7
Estimated H-index: 7
(UBC: University of British Columbia)
Early-infantile encephalopathies with epilepsy are devastating conditions mandating an accurate diagnosis to guide proper management. Whole-exome sequencing was used to investigate the disease etiology in four children from independent families with intellectual disability and epilepsy, revealing bi-allelic GOT2 mutations. In-depth metabolic studies in individual 1 showed low plasma serine, hypercitrullinemia, hyperlactatemia, and hyperammonemia. The epilepsy was serine and pyridoxine responsive...
Published in American Journal of Human Genetics 9.92
Hana Zouk , Eric Venner7
Estimated H-index: 7
+ -3 AuthorsSamuel J. Aronson10
Estimated H-index: 10
The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The eMERGE III Network enrolled >25,000 participants from biobank and prospective cohorts of predominantly healthy individuals for clinical genetic testing to determine clinically actionable findings. The network developed protocols linking together the 11 participant collection sites and 2 clinical genetic testing laboratories. DNA capture pane...
Published on Jun 1, 2019in American Journal of Human Genetics 9.92
T. A. Joseph (Columbia University), Itsik Pe'er38
Estimated H-index: 38
(Columbia University)
Sequencing ancient DNA can offer direct probing of population history. Yet, such data are commonly analyzed with standard tools that assume DNA samples are all contemporary. We present DyStruct, a model and inference algorithm for inferring shared ancestry from temporally sampled genotype data. DyStruct explicitly incorporates temporal dynamics by modeling individuals as mixtures of unobserved populations whose allele frequencies drift over time. We develop an efficient inference algorithm for o...
Published in American Journal of Human Genetics 9.92
Teri A. Manolio101
Estimated H-index: 101
(NIH: National Institutes of Health)
The shortage of genomic research data in persons of non-European ancestry is impeding our ability to use genomics in the clinical care of non-European individuals. Improved efforts to utilize data on non-European populations will increase the quality of genomic research and the inferences drawn from it for people of all backgrounds.
Published on Jul 18, 2019in American Journal of Human Genetics 9.92
Genevieve H.L. Roberts (Anschutz Medical Campus), Subrata Paul (University of Colorado Denver)+ 2 AuthorsRichard A. Spritz62
Estimated H-index: 62
(Anschutz Medical Campus)
Vitiligo is an autoimmune disease that results in patches of depigmented skin and hair. Previous genome-wide association studies (GWASs) of vitiligo have identified 50 susceptibility loci. Variants at the associated loci are generally common and have individually small effects on risk. Most vitiligo cases are "simplex," where there is no family history of vitiligo, though occasional family clustering of vitiligo occurs, and some "multiplex" families report numerous close affected relatives. Here...
Published on Jul 18, 2019in American Journal of Human Genetics 9.92
Oguz Kanca7
Estimated H-index: 7
(BCM: Baylor College of Medicine),
Jonathan C. Andrews (BCM: Baylor College of Medicine)+ 265 AuthorsJudy Williams
WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of the WD40 repeat protein family. Two probands shared one variant and the others have variants in nearby amino acids outside the WD40 repeats. The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability,...
Published on Jul 18, 2019in American Journal of Human Genetics 9.92
Yen-Chen Feng1
Estimated H-index: 1
Daniel P. Howrigan15
Estimated H-index: 15
+ 237 AuthorsNick Watts
Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopa...
Published in American Journal of Human Genetics 9.92
Bernard Ng15
Estimated H-index: 15
(UBC: University of British Columbia),
William Casazza (UBC: University of British Columbia)+ -3 AuthorsP. L. De Jager81
Estimated H-index: 81
(CUMC: Columbia University Medical Center)
Deciphering the environmental contexts at which genetic effects are most prominent is central for making full use of GWAS results in follow-up experiment design and treatment development. However, measuring a large number of environmental factors at high granularity might not always be feasible. Instead, here we propose extracting cellular embedding of environmental factors from gene expression data by using latent variable (LV) analysis and taking these LVs as environmental proxies in detecting...