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Birth Defects Research. Part A, Clinical and Molecular Teratology|December 10, 2015
Replication analysis of 15 susceptibility loci for nonsyndromic cleft lip with or without cleft palate in an italian populationFrancesca Cura, Anne C Böhmer, Johanna Klamt, et al.
Investigative Ophthalmology & Visual Science|August 7, 2019
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon SkippingPeter Charbel Issa, Martin Gliem, Imran H Yusuf, et al.
Human Mutation|November 16, 2005
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndromeStefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, et al.
Investigative Ophthalmology & Visual Science|August 9, 2017
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal CiliopathyJohannes Birtel, Martin Gliem, Elisabeth Mangold, et al.
Genetic Epidemiology|July 26, 2020
Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasmsLaurence J Howe, Gibran Hemani, Corina Lesseur, et al.
Bioinformatics (Oxford, England)|April 18, 2014
Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relativesAlexandre Bureau, Samuel G Younkin, Margaret M Parker, et al.
Plos One|December 14, 2018
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosaJohannes Birtel, Martin Gliem, Elisabeth Mangold, et al.
Human Genetics|July 24, 2002
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriersWaltraut Friedl, Siegfried Uhlhaas, Karsten Schulmann, et al.
Human Mutation|September 15, 2022
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndromeFabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, et al.
Human Mutation|February 20, 2004
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissueJens Plaschke, Stefan Krüger, Wolfgang Dietmaier, et al.
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