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Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios

PLoS genetics, 2021-07, Vol.17 (7), p.e1009584-e1009584

2021

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Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

Nature genetics, 2008-11, Vol.40 (11), p.1341-1347

2008

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Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth

Scientific reports, 2021-08, Vol.11 (1), p.17115-17115, Article 17115

2021

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Rare variants analyses suggest novel cleft genes in the African population

Scientific reports, 2024-06, Vol.14 (1), p.14279-10, Article 14279

2024

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Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions

Frontiers in cell and developmental biology, 2021-04, Vol.9, p.621482-621482

2021

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The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip

HGG advances, 2021-04, Vol.2 (2), p.100025, Article 100025

2021

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The Impact of Maternal Smoking during Pregnancy on Early Child Neurodevelopment

Journal of human capital, 2011-06, Vol.5 (2), p.207-254

2011

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Challenges to the study of gender dysphoria

Acta Paediatrica, 2023-11, Vol.112 (11), p.2273-2275

2023

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A cohort study of recurrence patterns among more than 54000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance

Journal of medical genetics, 2010-03, Vol.47 (3), p.162

2010

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Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes

Molecular genetics & genomic medicine, 2021-04, Vol.9 (4), p.e1655-n/a

2021

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Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes

Human genetics, 2023-10, Vol.142 (10), p.1531-1541

2023

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Shared genetic risk between major orofacial cleft phenotypes in an African population

Genetic epidemiology, 2024-09, Vol.48 (6), p.258-269

2024

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Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations

Molecular genetics & genomic medicine, 2014-03, Vol.2 (2), p.138-151

2014

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Prediction of preterm birth with and without preeclampsia using mid-pregnancy immune and growth-related molecular factors and maternal characteristics

Journal of perinatology, 2018-08, Vol.38 (8), p.963-972

2018

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Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa

AJOB empirical bioethics, 2024-01, Vol.15 (2), p.133-146

2024

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A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

Molecular genetics & genomic medicine, 2013-07, Vol.1 (2), p.108-112

2013

Volltextzugriff (PDF)

Validation of gestational age determination from ultrasound or a metabolic gestational age algorithm using exact date of conception in a cohort of newborns conceived using assisted reproduction technologies

AJOG global reports, 2022-11, Vol.2 (4), p.100091-100091, Article 100091

2022

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Correction: Genetic predictors of severe intraventricular hemorrhage in extremely low-birthweight infants

Journal of perinatology, 2021-02, Vol.41 (2), p.361-361

2021

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Genetic predictors of severe intraventricular hemorrhage in extremely low-birthweight infants

Journal of perinatology, 2021-02, Vol.41 (2), p.286-294

2021

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Abstract 2467: Association of specificity protein 1 and survivin expression in medulloblastoma: Identifying effective therapeutic targets

Cancer research (Chicago, Ill.), 2016-07, Vol.76 (14_Supplement), p.2467-2467

2016

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Cost-effectiveness of a gestational age metabolic algorithm for preterm and small-for-gestational-age classification

American journal of obstetrics & gynecology MFM, 2021-01, Vol.3 (1), p.100279-100279, Article 100279

2021

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Association of maternal CNVs in GSTT1/GSTT2 with smoking, preterm delivery, and low birth weight

Frontiers in genetics, 2013, Vol.4, p.196

2013

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75: Whole exome sequencing identifies rare variants implicated in preterm birth

American journal of obstetrics and gynecology, 2016, Vol.214 (1), p.S55-S55

2016

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Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios

Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth

Rare variants analyses suggest novel cleft genes in the African population

Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions

Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus

The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip

The Impact of Maternal Smoking during Pregnancy on Early Child Neurodevelopment

Challenges to the study of gender dysphoria

A cohort study of recurrence patterns among more than 54000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance

Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes

Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes

Shared genetic risk between major orofacial cleft phenotypes in an African population

Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations

Prediction of preterm birth with and without preeclampsia using mid-pregnancy immune and growth-related molecular factors and maternal characteristics

Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa

A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

Validation of gestational age determination from ultrasound or a metabolic gestational age algorithm using exact date of conception in a cohort of newborns conceived using assisted reproduction technologies

Correction: Genetic predictors of severe intraventricular hemorrhage in extremely low-birthweight infants

Genetic predictors of severe intraventricular hemorrhage in extremely low-birthweight infants

Abstract 2467: Association of specificity protein 1 and survivin expression in medulloblastoma: Identifying effective therapeutic targets

Cost-effectiveness of a gestational age metabolic algorithm for preterm and small-for-gestational-age classification

Association of maternal CNVs in GSTT1/GSTT2 with smoking, preterm delivery, and low birth weight

75: Whole exome sequencing identifies rare variants implicated in preterm birth

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