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Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

Elisabeth Mangold and colleagues report a genome-wide association study for non-syndromic cleft lip with or without cleft palate.

Elisabeth Mangold
Kerstin U Ludwig
Markus M Nöthen
Research20 Dec 2009
Nature Genetics

Volume: 42, P: 24-26
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

Elisabeth Mangold and colleagues carried out a genome-wide association study for nonsyndromic cleft lip with or without cleft palate, and report a locus on 8q24.21 that is strongly associated with this phenotype.

Stefanie Birnbaum
Kerstin U Ludwig
Elisabeth Mangold
Research08 Mar 2009
Nature Genetics

Volume: 41, P: 473-477
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Elisabeth Mangold and colleagues report a genome-wide meta-analyses of non-syndromic cleft lip with or without cleft palate (NSCL/P). They report six new genetic loci associated with risk for NSCL/P.

Kerstin U Ludwig
Elisabeth Mangold
Markus M Nöthen
Research05 Aug 2012
Nature Genetics

Volume: 44, P: 968-971
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt
Magdalena Danyel
Matias Wagner
Amendments and CorrectionsOpen Access24 Jun 2025
Nature Genetics

Volume: 57, P: 1790-1791
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Exome sequencing within a structured diagnostic process for rare diseases in Germany shows how facial image analysis and machine learning can guide variant prioritization and uncover many ultrarare diseases.

Axel Schmidt
Magdalena Danyel
Matias Wagner
ResearchOpen Access22 Jul 2024
Nature Genetics

Volume: 56, P: 1644-1653
Characterization of new cristamonad species from kalotermitid termites including a novel genus, Runanympha

Racquel A. Singh
Vittorio Boscaro
Patrick J. Keeling
ResearchOpen Access31 Mar 2021
Scientific Reports

Volume: 11, P: 1-12
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

Non-syndromic cleft lip with palate is a common birth defect of unknown aetiology. Here, the authors discover 14 new genes associated with this condition, and show genetic heterogeneity in this and other non-syndromic orofacial clefting disorders.

Yanqin Yu
Xianbo Zuo
Zhuan Bian
ResearchOpen Access24 Feb 2017
Nature Communications

Volume: 8, P: 1-11
Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia

Johannes Schumacher and colleagues report the results of a genetic association study of idiopathic achalasia, a rare motility disorder of the esophagus. They show that common variation in the HLA-DQ region is strongly associated with achalasia risk, implicating immune-mediated processes in this disorder.

Ines Gockel
Jessica Becker
Johannes Schumacher
Research06 Jul 2014
Nature Genetics

Volume: 46, P: 901-904
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models

Nina Ishorst
Selina Hölzel
Elisabeth Mangold
ResearchOpen Access19 Dec 2024
European Journal of Human Genetics

Volume: 33, P: 595-606
Allele-specific transcription factor binding in a cellular model of orofacial clefting

Katharina L. M. Ruff
Ronja Hollstein
Kerstin U. Ludwig
ResearchOpen Access02 Feb 2022
Scientific Reports

Volume: 12, P: 1-10
Reprogramming metastatic tumour cells with embryonic microenvironments

Aggressive tumour cells share many characteristics with embryonic stem cells, contributing to the conundrum of tumour cell plasticity. This review discusses the evidence for the convergence of embryonic and tumorigenic signalling pathways, highlighting the most prominent targets that could be therapeutically beneficial.

Mary J. C. Hendrix
Elisabeth A. Seftor
Lynne-Marie Postovit
Reviews01 Apr 2007
Nature Reviews Cancer

Volume: 7, P: 246-255
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

Stefan Aretz
Siegfried Uhlhaas
Waltraut Friedl
Research01 Oct 2003
European Journal of Human Genetics

Volume: 12, P: 52-58
Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

Lukas Soellner
Matthias Begemann
Elisabeth Mangold
Research31 May 2017
European Journal of Human Genetics

Volume: 25, P: 924-929
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Lavinia Paternoster and colleagues report the results of a large, multi-ancestry genome-wide association study of atopic dermatitis. They identify ten new susceptibility loci harboring candidate genes involved in innate host defense and T cell function.

Lavinia Paternoster
Marie Standl
Stephan Weidinger
Research19 Oct 2015
Nature Genetics

Volume: 47, P: 1449-1456
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

GestaltMatcher uses a deep convolutional neural network to improve recognition of rare disorders based on facial morphology. The framework detects similarities among patients with previously unseen syndromes, aiding discovery of new disease genes.

Tzung-Chien Hsieh
Aviram Bar-Haim
Peter M. Krawitz
Research10 Feb 2022
Nature Genetics

Volume: 54, P: 349-357
Genetic determination of human facial morphology: links between cleft-lips and normal variation

Stefan Boehringer
Fedde van der Lijn
Manfred Kayser
Research22 Jun 2011
European Journal of Human Genetics

Volume: 19, P: 1192-1197
Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting

Anna Siewert
Simone Hoeland
Kerstin U. Ludwig
ResearchOpen Access03 Nov 2024
Scientific Reports

Volume: 14, P: 1-10
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes

Maria Wehner
Elisabeth Mangold
Constanze Pagenstecher
Research04 May 2005
European Journal of Human Genetics

Volume: 13, P: 983-986
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Charlotte W. Ockeloen
Kriti D. Khandelwal
Carine E. L. Carels
Research10 Mar 2016
Genetics in Medicine

Volume: 18, P: 1158-1162
TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate

Heiko Reutter
Stefanie Birnbaum
Elisabeth Mangold
Research01 Jul 2008
Journal of Human Genetics

Volume: 53, P: 656-661
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

Johannes Birtel
Tobias Eisenberger
Peter Charbel Issa
ResearchOpen Access19 Mar 2018
Scientific Reports

Volume: 8, P: 1-11
PEDIA: prioritization of exome data by image analysis

Tzung-Chien Hsieh
Martin A. Mensah
Peter M. Krawitz
ResearchOpen Access05 Jun 2019
Genetics in Medicine

Volume: 21, P: 2807-2814
Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Kriti D. Khandelwal
Marie-José H. van den Boogaard
Hans van Bokhoven
Research08 Mar 2019
European Journal of Human Genetics

Volume: 27, P: 1101-1112
Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts

Paras Garg
Kerstin U Ludwig
Andrew J Sharp
Research30 Oct 2013
European Journal of Human Genetics

Volume: 22, P: 822-830
Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

Maria C Bonaglia
Susan Marelli
Orsetta Zuffardi
Research21 Jul 2010
European Journal of Human Genetics

Volume: 18, P: 1302-1309

Search

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Characterization of new cristamonad species from kalotermitid termites including a novel genus, Runanympha

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

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

Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models

Allele-specific transcription factor binding in a cellular model of orofacial clefting

Reprogramming metastatic tumour cells with embryonic microenvironments

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Genetic determination of human facial morphology: links between cleft-lips and normal variation

Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes

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

TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

PEDIA: prioritization of exome data by image analysis

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

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