Elisabeth Mangold

A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores

PEDIA: prioritization of exome data by image analysis

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Evidence for <i><scp>PTGER</scp>4</i>,<i><scp>PSCA</scp>,</i> and <i><scp>MBOAT</scp>7</i> as risk genes for gastric cancer on the genome and transcriptome level

Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample

The <i>GPRC5A</i> frameshift variant c.183del is not associated with increased breast cancer risk in <i>BRCA1</i> mutation carriers

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing

Evidence for PTGER4, PSCA and MBOAT7 as risk genes for gastric cancer on the genome and transcriptome level

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data

Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate

Reticular Pseudodrusen in Sorsby Fundus Dystrophy

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

Monoallelic<i>ABCA4</i>Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study

Supportive evidence for <i><scp>FOXP</scp>1</i>,<i><scp>BARX</scp>1</i>, and <i><scp>FOXF</scp>1</i> as genetic risk loci for the development of esophageal adenocarcinoma

Replication analysis of 15 susceptibility loci for nonsyndromic cleft lip with or without cleft palate in an italian population

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

Strong Association of Variants around <i>FOXE1</i> and Orofacial Clefting

Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within<i>Gremlin‐1</i>, a component of the bone morphogenetic protein 4 pathway

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study