1.
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
by Zepeda-Mendoza, Cinthya J
American journal of human genetics, 2017-08-03, Vol.101 (2), p.206-217
2.
A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility
by Carmona, F. David
American journal of human genetics, 2015-04-02, Vol.96 (4), p.565-580
3.
Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians
by Pagani, Luca
American journal of human genetics, 2015-06-04, Vol.96 (6), p.986-991
4.
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
by Dusi, Sabrina
American journal of human genetics, 2014-01-02, Vol.94 (1), p.11-22
5.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
by Marchegiani, Shannon
American journal of human genetics, 2015-07-02, Vol.97 (1), p.99-110
6.
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
by Brea-Calvo, Gloria
American journal of human genetics, 2015-02-05, Vol.96 (2), p.309-317
7.
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia
by Campos-Xavier, Ana Belinda
American journal of human genetics, 2009-06-12, Vol.84 (6), p.760-770
8.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
by Olsen, Rikke K.J
American journal of human genetics, 2016-06-02, Vol.98 (6), p.1130-1145
9.
Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
by Hartig, Monika B
American journal of human genetics, 2011, Vol.89 (4), p.543-550
10.
Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits
by MacDermot, Kay D
American journal of human genetics, 2005, Vol.76 (6), p.1074-1080
11.
BRCA1 Circos: a visualisation resource for functional analysis of missense variants
by Jhuraney, Ankita
Journal of medical genetics, 2015-04, Vol.52 (4), p.224-230
12.
Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
by Melchionda, L
American journal of human genetics, 2014, Vol.95 (3), p.315-325
13.
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
by Flex, Elisabetta
Journal of medical genetics, 2013-08, Vol.50 (8), p.493-499
14.
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
by Zhang, Ling
American journal of human genetics, 2015-04-02, Vol.96 (4), p.597-611
15.
Erratum : A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (The A...
American journal of human genetics, 2018-10-04, Vol.103 (4)
16.
The Genetic Ancestry of African Americans, Latinos, and European Americans across the United States
by Bryc, Katarzyna
American journal of human genetics, 2015-01-08, Vol.96 (1), p.37-53
17.
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
by Ripke, Stephan
American journal of human genetics, 2015-10-01, Vol.97 (4), p.576-592
18.
Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
by Trynka, Gosia
American journal of human genetics, 2014-11-06, Vol.95 (5), p.535-552
19.
Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity
by Lopez-Herrera, Gabriela
American journal of human genetics, 2012-06-08, Vol.90 (6), p.986-1001
20.
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
by Li, Jun
American journal of human genetics, 2016-05-05, Vol.98 (5), p.830-842
