Birth Defects Research

(The TQCC of Birth Defects Research is 3. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-05-01 to 2024-05-01.)
Plastics derived endocrine‐disrupting compounds and their effects on early development87
Bisphenols and phthalates: Plastic chemical exposures can contribute to adverse cardiovascular health outcomes51
Chemical components of plastics as endocrine disruptors: Overview and commentary45
How microplastic components influence the immune system and impact on children health: Focus on cancer40
A 2019 global update on folic acid‐preventable spina bifida and anencephaly40
Genetics and signaling mechanisms of orofacial clefts39
Cellular and developmental basis of orofacial clefts39
Update on the gestational effects of maternal hyperthermia31
The detrimental effect of microplastics on critical periods of development in the neuroendocrine system31
Environmental mechanisms of orofacial clefts26
Folate intake, markers of folate status and oral clefts: An updated set of systematic reviews and meta‐analyses24
Teratogen update: Zika virus and pregnancy22
Role of epigenetics and miRNAs in orofacial clefts22
Risk of malformation after ondansetron in pregnancy: An updated systematic review and meta‐analysis21
Disparities in insurance coverage among hospitalized adult congenital heart disease patients before and after the Affordable Care Act18
Update on the developmental consequences of cannabis use during pregnancy and lactation17
Impact of Bisphenol A on neural tube development in 48‐hr chicken embryos17
Projected impact of mandatory food fortification with folic acid on neurosurgical capacity needed for treating spina bifida in Ethiopia17
Maternal risk factors for gastroschisis: A population‐based case–control study17
Academic achievement and needs of school‐aged children born with selected congenital anomalies: A systematic review and meta‐analysis16
Transgenerational adverse effects of valproate? A patient report from 90 affected families16
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study16
Prenatal alcohol exposure induced congenital heart diseases: From bench to bedside16
A multi‐country study of prevalence and early childhood mortality among children with omphalocele15
An exercise program throughout pregnancy: Barakat model15
Identifying environmental risk factors and gene–environment interactions in holoprosencephaly15
European trends in mortality in children with congenital anomalies: 2000–201515
Pregnancy and infant outcomes by trimester of SARS‐CoV‐2 infection in pregnancy–SET‐NET, 22 jurisdictions, January 25, 2020–December 31, 202014
A life‐table analysis of the intrauterine fate of malformed human embryos and fetuses14
Examination of cortically projecting cholinergic neurons following exercise and environmental intervention in a rodent model of fetal alcohol spectrum disorders14
A global update on the status of prevention of folic acid‐preventable spina bifida and anencephaly in year 2020: 30‐Year anniversary of gaining knowledge about folic acid's prevention potential for ne13
Prevalence of structural birth defects among infants with Down syndrome, 2013–2017: A US population‐based study13
Bisphenol A decreases progesterone synthesis in human ovarian granulosa cells13
Use of antihistamine medications during early pregnancy and selected birth defects: The National Birth Defects Prevention Study, 1997–201113
Prenatal exposure to atrazine induces cryptorchidism and hypospadias in F1 male mouse offspring13
First trimester COVID‐19 and the risk of major congenital malformations–International Registry of Coronavirus Exposure in Pregnancy12
Maternal, pregnancy, and neonatal outcomes for women with Turner syndrome12
Associations between cumulative environmental quality and ten selected birth defects in Texas12
Risk management of teratogenic medicines: A systematic review11
Perfluorooctanoic acid inhibits the maturation rate of mouse oocytes cultured in vitro by triggering mitochondrial and DNA damage10
Developmental toxicity induced by triclosan exposure in zebrafish embryos10
A novel human stem cell‐based biomarker assay for in vitro assessment of developmental toxicity10
Swimming toward solutions: Using fish and frogs as models for understanding RASopathies10
Prevalence of critical congenital heart defects and selected co‐occurring congenital anomalies, 2014–2018: A U.S. population‐based study10
Preconception telomere length as a novel maternal biomarker to assess the risk of spina bifida in the offspring10
Exposures influencing the developing central autonomic nervous system10
Maternal ethnicity and the prevalence of British pregnancies affected by neural tube defects10
Resveratrol ameliorates toxic effects of cadmium on placental development in mouse placenta and human trophoblast cells10
Zika virus‐induced brain malformations in chicken embryos9
Modification of the association between diabetes and birth defects by obesity, National Birth Defects Prevention Study, 1997–20119
Prenatal developmental toxicity of alkyl dimethyl benzyl ammonium chloride and didecyl dimethyl ammonium chloride in CD rats and New Zealand White rabbits9
Inpatient admissions and costs for adolescents and young adults with congenital heart defects in New York, 2009–20138
Modeling shows high potential of folic acid‐fortified salt to accelerate global prevention of major neural tube defects8
Maternal age and the prevalence of congenital heart defects in Europe, 1995–2015: A register‐based study8
Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs8
Periconceptional folic acid supplement use among women of reproductive age and its determinants in central rural Germany: Results from a cross sectional study8
Cigarette smoke induced neural tube defects by down‐regulating noggin expression8
Cardiopulmonary exercise testing during pregnancy8
Maternotoxicity and fetotoxicity in Rattus norvegicus albinus exposed to tramadol during the late phase of pregnancy8
Maternal‐fetal outcomes of exercise applied in rats with mild hyperglycemia after embryonic implantation8
Fetal exposure to tofacitinib during the first trimester: A healthy newborn case report8
Developmental safety of nirmatrelvir in zebrafish (Danio rerio) embryos8
Moderate intensity aerobic exercise during pregnancy and 1‐month infant Morphometry8
Maternal biomarkers for early prediction of the neural tube defects pregnancies8
Toward better assessments of developmental toxicity using stem cell‐based in vitro embryogenesis models7
Gene–environment interactions between air pollution and biotransformation enzymes and risk of birth defects7
No developmental toxicity observed with dolutegravir in rat whole embryo culture7
Paternal exposure to di‐n‐butyl‐phthalate induced developmental toxicity in zebrafish (Danio rerio)7
Congenital diaphragmatic hernia and maternal dietary nutrient pathways and diet quality7
Teratogen update: Malaria in pregnancy and the use of antimalarial drugs in the first trimester7
Clinical and neurodevelopmental outcomes based on brain imaging studies in a Colombian cohort of children with probable antenatal Zika virus exposure7
Behavioral and neuroinflammatory changes caused by glyphosate: Base herbicide in mice offspring7
Paternal exposure to recreational drugs before conception and its effect on live‐born offspring: A scoping review7
Prevalence of congenital heart defects in Europe, 2008–2015: A registry‐based study7
Melatonin inhibits embryonic rat H9c2 cells growth through induction of apoptosis and cell cycle arrest via PI3K‐AKT signaling pathway7
Relationship between achieving Sustainable Development Goals and promoting optimal care and prevention of birth defects globally7
Readability, understandability, and quality of retinopathy of prematurity information on the web7
Prevalence and mortality among children with anorectal malformation: A multi‐country analysis7
Teratogen update: Topical use and third‐generation retinoids7
Belimumab use during pregnancy: Interim results of the belimumab pregnancy registry7
Risk factors and time trends for isolated craniosynostosis7
Gastroschisis in Ontario, Canada: 2012–20187
Vasoactive exposures and risk of amniotic band syndrome and terminal transverse limb deficiencies6
Prenatal epigenetic factors are predisposing for neurodevelopmental disorders—Considering placenta as a model6
Folic acid prescribed to prenatal and postpartum women who are also prescribed antiepileptic drugs in Japan: Data from a health administrative database6
The accuracy of hospital discharge data in recording major congenital anomalies in Australia6
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7‐related disorder6
Re‐sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL6
Post‐traumatic stress disorder, anxiety, and depression among adults with congenital heart defects6
Perspectives on challenges and opportunities for birth defects surveillance programs during and after the COVID‐19 era6
Does it matter when I quit? Could I just cut down some? Links between trimester‐specific smoking amount, preterm birth, and low birth weight6
Regulation of Oct4 in stem cells and neural crest cells6
Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries6
Conjoined twins and conjoined triplets: At the heart of the matter6
Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings6
Variations in maternal vitamin A intake modifies phenotypes in a mouse model of 22q11.2 deletion syndrome6
Zika virus as a cause of birth defects: Were the teratogenic effects of Zika virus missed for decades?6
Review of the state of science and evaluation of currently available in silico prediction models for reproductive and developmental toxicity: A case study on pesticides5
Maternal diabetes as a teratogenic factor for congenital heart defects in infants of diabetic mothers5
Exposure to alirocumab during the first trimester of pregnancy: A case report5
Concomitant genetic defects potentiate the adverse impact of prenatal alcohol exposure on cardiac outflow tract maturation5
The effects of in ovo administered bisphenol A on tibial growth plate histology in chicken5
Developmental 2,3,7,8‐tetrachlorodibenzo‐p‐dioxin exposure of either parent enhances the risk of necrotizing enterocolitis in neonatal mice5
Prevalence of neural tube defects, maternal HIV status, and antiretroviral therapy from a hospital‐based birth defect surveillance in Kampala, Uganda5
Reproductive toxicity assessment of alkyl dimethyl benzyl ammonium chloride and didecyl dimethyl ammonium chloride in CD® rats5
Analysis of proportional data in reproductive and developmental toxicity studies: Comparison of sensitivities of logit transformation, arcsine square root transformation, and nonparametric analysis5
Parietal bone agenesis and athelia in retinoic acid embryopathy: An expansion of the phenotype5
In‐utero cannabis exposure and long‐term psychiatric and neurodevelopmental outcomes: The limitations of existing literature and recommendations for future research5
Noonan syndrome on the African Continent5
Cardiovascular function during early development is suppressed by cinnamon flavored, nicotine‐free, electronic cigarette vapor5
Comparison of DNA methylation patterns across tissue types in infants with tetralogy of Fallot5
Structural changes, increased hypoxia, and oxidative DNA damage in placenta due to maternal smokeless tobacco use5
The effect of different concentrations of cerium oxide during pregnancy on ovarian follicle development in neonatal mice5
A model partnership for communication and dissemination of scientific recommendations for pregnant women during the emergency response to the Zika virus outbreak: MotherToBaby and the Cente5
Malarial PI4K inhibitor induced diaphragmatic hernias in rat: Potential link with mammalian kinase inhibition5
Application of zebrafish in the study of craniomaxillofacial developmental anomalies5
Limited surface examination to evaluate potential teratogens in a resource‐limited setting5
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights5
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature5
Early‐lifeexposure to alcohol and the risk ofalcohol‐inducedliver disease in adulthood5
Perinatal nicotine exposure alters lung development and induces HMGB1‐RAGE expression in neonatal mice5
Myelomeningocele genotype–phenotype correlation findings in cilia, HH, PCP, and WNT signaling pathways5
In vitro effects of citral on the human myometrium: Potential adjunct therapy to prevent preterm births5
Evaluating the proportion of isolated cases among a spectrum of birth defects in a population‐based registry5
Single‐cell profiling for advancing birth defects research and prevention4
Methoxyacetic acid inhibits histone deacetylase and impairs axial elongation morphogenesis of mouse gastruloids in a retinoic acid signaling‐dependent manner4
Teratogen update: Amphetamines4
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes4
Final results from the ribavirin pregnancy registry, 2004–20204
School age educational outcomes of infants born with congenital diaphragmatic hernia4
Pregnancy in systemic lupus erythematosus4
Evaluation of interactive effects between paternal alcohol consumption and paternal socioeconomic status and environmental exposures on congenital heart defects4
Development and evaluation of standardized pregnancy identification and trimester distribution algorithms in U.S. IBM MarketScan® Commercial and Medicaid data4
Effect of buscopan, a compound that alleviates cramps, on the developing nervous system of the chick embryo4
Assessing the relationship between neonatal abstinence syndrome and birth defects in Delaware4
Quantitative in vitro to in vivo extrapolation for developmental toxicity potency of valproic acid analogues4
Identifying the landscape of developmental toxicity new approach methodologies4
Folic acid antagonist use before and during pregnancy and risk for selected birth defects4
Maternal cigarette smoking and alcohol consumption and congenital diaphragmatic hernia4
Association of paternal smoking with the risk of neural tube defects in offspring: A systematic review and meta‐analysis of observational studies4
Role of coxsackie‐adenovirus receptor in cardiac development and pathogenesis of congenital heart disease4
Multiple subtypes of coxsackievirus group B can cause congenital heart disease4
Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+)4
Prevalence of birth defects among infants with neonatal abstinence syndrome in Illinois, 2015–20164
Gamma aminobutyric acid signaling disturbances and altered astrocytic morphology associated with Bisphenol A induced cognitive impairments in rat offspring4
Comparison of germ cell differentiation of rat testis fragments cultured in knockout serum replacement versus Albumax™ I4
Maternal exposure to hydroxychloroquine and birth defects4
Investigation of developmental toxicity of favipiravir on fetal bone and embryonic development4
Maternal risk associated with the VACTERL association: A case–control study4
Prenatal alcohol exposure can be determined from baby teeth: Proof of concept4
Terminal transverse limb defects with “nubbins”4
Using high throughput screens to predict miscarriages with placental stem cells and long‐term stress effects with embryonic stem cells4
Teratogen update: Antithyroid medications4
Combined effects of maternal exposure to fungicides on behavioral development in F1‐generation mice: 2. Fixed‐dose study of thiabendazole4
Leveraging a phenome‐wide approach to identify novel exposure‐birth defect associations: A proof of concept using maternal smoking and a spectrum of birth defects4
Describing characteristics of adults with and without congenital heart defects hospitalized with COVID‐194
The risk of major structural birth defects associated with seasonal influenza vaccination during pregnancy: A population‐based cohort study4
Health‐related quality of life after 50 years in individuals with thalidomide embryopathy: Evidence from a German cross‐sectional survey4
Comparison of inherited neural tube defects in companion animals and livestock3
Yolk sac development, function and role in rodent pregnancy3
3‐Methylglutaconic aciduria type VIII in an Indian neonate3
Abnormal placental cord insertion, hypertensive disorders of pregnancy and birth length may be involved in development of hypospadias in male fetuses3
Reproductive and neurobehavioral effects of maternal exposure to dinotefuran in the F1‐generation mice3
Tris(4‐chlorophenyl)methane and tris(4‐chlorophenyl)methanol disrupt pancreatic organogenesis and gene expression in zebrafish embryos3
Amelioration of silymarin against cadmium‐induced toxicity in pregnant rats and their fetuses3
Periconceptional folic acid use prevents both rare and common neural tube defects in China3
Characterization of individuals with selected muscular dystrophies from the expanded pilot of the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) in the United S3
Developmental toxicity of remdesivir, an anti‐COVID‐19 drug, is implicated by in vitro assays using morphogenetic embryoid bodies of mouse and human pluripotent stem cells3
A cross‐sectional study of brownfields and birth defects3
Causes of neonatal and postneonatal death among infants with birth defects in Texas3
A putative adverse outcome network for neonatal mortality and lower birth weight in rodents: Applicability to per‐ and polyfluoroalkyl substances and relevance to human health3
Evidence for a cluster of rare birth defects in the Ain department (France)3
The possible effect of lactoferrin on the epigenetic characteristics of early mammalian embryos exposed to bisphenol A3
Abnormal growth and morphogenesis of placenta at term is linked to adverse fetal development after perigestational alcohol consumption up to early gestation in mouse3
The effects of aerobic exercise on markers of maternal metabolism during pregnancy3
Dolutegravir and rat whole embryo culture3
Compound craniosynostosis, intellectual disability, and Noonan‐like facial dysmorphism associated with 7q32.3‐q35 deletion3
Physical activity and gestational weight gain predict physiological and perceptual responses to exercise during pregnancy3
Agreement between maternal report and medical records on use of medications during early pregnancy in New York3
The pro‐apoptotic Bax gene modifies susceptibility to craniofacial dysmorphology following gastrulation‐stage alcohol exposure3
Maternal dietary caffeine consumption and risk of birth defects in the National Birth Defects Prevention Study, 1997–20113
Introduction to “Stem Cells” special issue3
COG6‐CDG: Novel variants and novel malformation3
Pregnancy outcome after first trimester exposure to vortioxetine: A case series3
Translational potential of hiPSCs in predictive modeling of heart development and disease3
Dose range finding approach for rodent preweaning juvenile animal studies3
Prenatal immobility stress: Relationship with oxidative stress, inflammation, apoptosis, and intrauterine growth restriction in rats3
Lesion‐specific mortality due to congenital heart disease in U.S. adults from 1999 to 20173
Biological impacts of the green synthesized silver nanoparticles on the pregnant albino rats and their fetuses3
Characteristics and first‐year mortality, by lesion level, among infants with spina bifida in the New York State Birth Defects Registry, 2008–20173
Teratogenesis and the epigenetic programming of congenital defects: Why paternal exposures matter3
Separation in genetic pathogenesis of mutations in FBN1‐TB5 region between autosomal dominant acromelic dysplasia and Marfan syndrome3
Maternal exposure to methylmercury causes an impairment in ependymal cilia motility in the third ventricle and dilation of lateral ventricles in mice offspring3
Systematic assessment of quaternary ammonium compounds for the potential to elicit developmental and reproductive effects3
A spatial analysis of birth defects in Texas, 1999–20113
Proportion of critical congenital heart defects attributable to unhealthy prepregnancy body mass index among women with live births in Florida, 2005–20163
Unfavorable postnatal outcome with significant dilation of the fetal main pulmonary artery near term3
Medicaid healthcare expenditures for infants with birth defects potentially related to Zika virus infection in North Carolina, 2011–20163
Neural tube defects prevalence does not increase after modification of the folic acid fortification program in Chile3
Distance from home to birth hospital, transfer, and mortality in neonates with hypoplastic left heart syndrome in California3
Exploratory analysis of machine learning approaches for surveillance of Zika‐associated birth defects3