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. 500 papers]. The publications cover those that have been published in the past four years, i.e., from 2019-09-01 to 2023-09-01.)
National population‐based estimates for major birth defects, 2010–2014384
Plastics derived endocrine‐disrupting compounds and their effects on early development63
Population‐based birth defects data in the United States, 2012–2016: A focus on abdominal wall defects41
Effects of low‐dose chlorpyrifos on neurobehavior and potential mechanisms: A review of studies in rodents, zebrafish, and Caenorhabditis elegans39
Cellular and developmental basis of orofacial clefts38
Genetics and signaling mechanisms of orofacial clefts36
Bisphenols and phthalates: Plastic chemical exposures can contribute to adverse cardiovascular health outcomes36
A 2019 global update on folic acid‐preventable spina bifida and anencephaly35
Chemical components of plastics as endocrine disruptors: Overview and commentary29
Mandatory newborn screening in the United States: History, current status, and existential challenges27
Genome‐wide association studies of structural birth defects: A review and commentary25
How microplastic components influence the immune system and impact on children health: Focus on cancer25
Update on the gestational effects of maternal hyperthermia24
Environmental mechanisms of orofacial clefts23
The detrimental effect of microplastics on critical periods of development in the neuroendocrine system22
Folate intake, markers of folate status and oral clefts: An updated set of systematic reviews and meta‐analyses19
Role of epigenetics and miRNAs in orofacial clefts19
The impact of perinatal nicotine exposure on fetal lung development and subsequent respiratory morbidity18
PBX‐WNT‐P63‐IRF6 pathway in nonsyndromic cleft lip and palate16
Risk of malformation after ondansetron in pregnancy: An updated systematic review and meta‐analysis16
Teratogen update: Zika virus and pregnancy16
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study16
The role of teratogens in neural crest development15
Disparities in insurance coverage among hospitalized adult congenital heart disease patients before and after the Affordable Care Act15
Comorbidities in situs inversus totalis: A hospital‐based study15
Projected impact of mandatory food fortification with folic acid on neurosurgical capacity needed for treating spina bifida in Ethiopia14
An exercise program throughout pregnancy: Barakat model14
Current landscape of prenatal genetic screening and testing14
Prenatal alcohol exposure induced congenital heart diseases: From bench to bedside13
A multi‐country study of prevalence and early childhood mortality among children with omphalocele12
Prenatal exposure to atrazine induces cryptorchidism and hypospadias in F1 male mouse offspring12
Absence of developmental and reproductive toxicity in animals exposed to dolutegravir12
Identifying environmental risk factors and gene–environment interactions in holoprosencephaly12
European trends in mortality in children with congenital anomalies: 2000–201512
Impact of Bisphenol A on neural tube development in 48‐hr chicken embryos12
Maternal risk factors for the VACTERL association: A EUROCAT case–control study12
Update on the developmental consequences of cannabis use during pregnancy and lactation12
Use of antihistamine medications during early pregnancy and selected birth defects: The National Birth Defects Prevention Study, 1997–201111
A life‐table analysis of the intrauterine fate of malformed human embryos and fetuses11
Maternal risk factors for gastroschisis: A population‐based case–control study11
Toxic effects of maternal exposure to silver nanoparticles on mice fetal development during pregnancy11
Examination of cortically projecting cholinergic neurons following exercise and environmental intervention in a rodent model of fetal alcohol spectrum disorders10
Animal models of gene–alcohol interactions9
Refinement of inducible gene deletion in embryos of pregnant mice9
Transgenerational adverse effects of valproate? A patient report from 90 affected families9
Maternal, pregnancy, and neonatal outcomes for women with Turner syndrome9
The association between legalization of recreational marijuana use and birth outcomes in Colorado and Washington state9
Academic achievement and needs of school‐aged children born with selected congenital anomalies: A systematic review and meta‐analysis8
Bisphenol A decreases progesterone synthesis in human ovarian granulosa cells8
Is preparation a good reason for prenatal genetic testing? Ethical and critical questions8
Prevalence of structural birth defects among infants with Down syndrome, 2013–2017: A US population‐based study8
Swimming toward solutions: Using fish and frogs as models for understanding RASopathies8
Maternal surgery and anesthesia during pregnancy and risk of birth defects in the National Birth Defects Prevention Study, 1997–20118
Preconception telomere length as a novel maternal biomarker to assess the risk of spina bifida in the offspring8
Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects8
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 ne8
Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system8
Prenatal developmental toxicity of alkyl dimethyl benzyl ammonium chloride and didecyl dimethyl ammonium chloride in CD rats and New Zealand White rabbits8
No developmental toxicity observed with dolutegravir in rat whole embryo culture7
Modeling shows high potential of folic acid‐fortified salt to accelerate global prevention of major neural tube defects7
Cardiopulmonary exercise testing during pregnancy7
Orthopedic findings in arthrogryposis and congenital Zika syndrome: A case series7
Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern7
Maternal‐fetal outcomes of exercise applied in rats with mild hyperglycemia after embryonic implantation7
The effect of low alcohol consumption during pregnancy on the lipid peroxidation‐antioxidant defense system of women, their alcohol‐exposed infants, and growth, health, and developmental outcomes7
Zika virus‐induced brain malformations in chicken embryos7
Maternotoxicity and fetotoxicity in Rattus norvegicus albinus exposed to tramadol during the late phase of pregnancy7
Exposures influencing the developing central autonomic nervous system7
Diaphragmatic paralysis: Evaluation in infants with congenital Zika syndrome7
Maternal ethnicity and the prevalence of British pregnancies affected by neural tube defects7
A novel human stem cell‐based biomarker assay for in vitro assessment of developmental toxicity7
Relationship between achieving Sustainable Development Goals and promoting optimal care and prevention of birth defects globally7
Does in vitro fertilization affect the expression of miRNAs and their biogenesis pathway in preimplantation mouse embryos?6
Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs6
Resveratrol ameliorates toxic effects of cadmium on placental development in mouse placenta and human trophoblast cells6
Gene–environment interactions between air pollution and biotransformation enzymes and risk of birth defects6
The accuracy of hospital discharge data in recording major congenital anomalies in Australia6
Perfluorooctanoic acid inhibits the maturation rate of mouse oocytes cultured in vitro by triggering mitochondrial and DNA damage6
Associations between cumulative environmental quality and ten selected birth defects in Texas6
Comorbidities in children with intellectual disabilities6
Tetanus, diphtheria, and pertussis vaccine (Tdap) in pregnancy and risk of major birth defects in the offspring6
Maternal biomarkers for early prediction of the neural tube defects pregnancies6
Inpatient admissions and costs for adolescents and young adults with congenital heart defects in New York, 2009–20136
Association between maternal pregestational diabetes mellitus and spina bifida: A population‐based case–control study, Finland, 2000–20146
Deletion of neural tube defect‐associated gene Mthfd1l causes reduced cranial mesenchyme density6
Risk factors and time trends for isolated craniosynostosis6
Teratogen update: Malaria in pregnancy and the use of antimalarial drugs in the first trimester6
Periconceptional folic acid supplement use among women of reproductive age and its determinants in central rural Germany: Results from a cross sectional study6
Perspectives on challenges and opportunities for birth defects surveillance programs during and after the COVID‐19 era6
Concepts in the neurosurgical care of patients with spinal neural tube defects: An embryologic approach6
Risk management of teratogenic medicines: A systematic review6
Limited surface examination to evaluate potential teratogens in a resource‐limited setting5
Developmental safety of nirmatrelvir in zebrafish (Danio rerio) embryos5
Paternal exposure to di‐n‐butyl‐phthalate induced developmental toxicity in zebrafish (Danio rerio)5
Noonan syndrome on the African Continent5
Perinatal nicotine exposure alters lung development and induces HMGB1‐RAGE expression in neonatal mice5
Reproductive toxicity assessment of alkyl dimethyl benzyl ammonium chloride and didecyl dimethyl ammonium chloride in CD® rats5
Modification of the association between diabetes and birth defects by obesity, National Birth Defects Prevention Study, 1997–20115
Developmental toxicity induced by triclosan exposure in zebrafish embryos5
Congenital diaphragmatic hernia and maternal dietary nutrient pathways and diet quality5
Moderate intensity aerobic exercise during pregnancy and 1‐month infant Morphometry5
Teratogen update: Topical use and third‐generation retinoids5
Structural changes, increased hypoxia, and oxidative DNA damage in placenta due to maternal smokeless tobacco use5
First trimester COVID‐19 and the risk of major congenital malformations–International Registry of Coronavirus Exposure in Pregnancy5
Post‐traumatic stress disorder, anxiety, and depression among adults with congenital heart defects5
The teratogenic effects of sertraline in mice5
Melatonin inhibits embryonic rat H9c2 cells growth through induction of apoptosis and cell cycle arrest via PI3K‐AKT signaling pathway5
Developmental 2,3,7,8‐tetrachlorodibenzo‐p‐dioxin exposure of either parent enhances the risk of necrotizing enterocolitis 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
Readability, understandability, and quality of retinopathy of prematurity information on the web4
Association between body mass index and folate insufficiency indicative of neural tube defects risk among nonpregnant women of childbearing age in the United States, NHANES, 2007–20104
The effects of in ovo administered bisphenol A on tibial growth plate histology in chicken4
Assessing the relationship between neonatal abstinence syndrome and birth defects in Delaware4
Mortality by mode of delivery among infants with spina bifida in Texas4
Malarial PI4K inhibitor induced diaphragmatic hernias in rat: Potential link with mammalian kinase inhibition4
A novel biallelic splice‐site variant in the LRP4 gene causes sclerosteosis 24
GTP hydrolysis is modulated by Arg34 in the RASopathy‐associated KRASP34R4
In‐utero cannabis exposure and long‐term psychiatric and neurodevelopmental outcomes: The limitations of existing literature and recommendations for future research4
A pilot study on the effect of early provision of dietary docosahexaenoic acid on testis development, functions, and sperm quality in rats exposed to prenatal ethanol4
Toward better assessments of developmental toxicity using stem cell‐based in vitro embryogenesis models4
Association between maternal periconceptional alcohol consumption and neural tube defects: Findings from the National Birth Defects Prevention Study, 1997–20114
Variations in maternal vitamin A intake modifies phenotypes in a mouse model of 22q11.2 deletion syndrome4
Maternal exposure to hydroxychloroquine and birth defects4
Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings4
Folic acid prescribed to prenatal and postpartum women who are also prescribed antiepileptic drugs in Japan: Data from a health administrative database4
Analysis of proportional data in reproductive and developmental toxicity studies: Comparison of sensitivities of logit transformation, arcsine square root transformation, and nonparametric analysis4
Gastroschisis in Ontario, Canada: 2012–20184
Cardiovascular function during early development is suppressed by cinnamon flavored, nicotine‐free, electronic cigarette vapor4
The de‐coders: A historical perspective of the genetic counseling profession4
Prevalence of birth defects among infants with neonatal abstinence syndrome in Illinois, 2015–20164
Conjoined twins and conjoined triplets: At the heart of the matter4
Comparison of germ cell differentiation of rat testis fragments cultured in knockout serum replacement versus Albumax™ I4
Prevalence of neural tube defects, maternal HIV status, and antiretroviral therapy from a hospital‐based birth defect surveillance in Kampala, Uganda4
Review of the state of science and evaluation of currently available in silico prediction models for reproductive and developmental toxicity: A case study on pesticides4
Maternal risk associated with the VACTERL association: A case–control study4
Exposure to alirocumab during the first trimester of pregnancy: A case report4
Multiple dose treatment reduces cyclophosphamide‐induced ovarian follicular loss in mice4
Regulation of Oct4 in stem cells and neural crest cells3
Medicaid healthcare expenditures for infants with birth defects potentially related to Zika virus infection in North Carolina, 2011–20163
Hydrocephaly associated with compound heterozygous alterations in TRAPPC123
Of embryos and tumors: Cyclopia and the relevance of mechanistic teratology3
Belimumab use during pregnancy: Interim results of the belimumab pregnancy registry3
Compound craniosynostosis, intellectual disability, and Noonan‐like facial dysmorphism associated with 7q32.3‐q35 deletion3
Single‐cell profiling for advancing birth defects research and prevention3
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature3
Abnormal growth and morphogenesis of placenta at term is linked to adverse fetal development after perigestational alcohol consumption up to early gestation in mouse3
Characterizing the effects of in utero exposure to valproic acid on murine fetal heart development3
Pregnancy and infant outcomes by trimester of SARS‐CoV‐2 infection in pregnancy–SET‐NET, 22 jurisdictions, January 25, 2020–December 31, 20203
Early‐life exposure to alcohol and the risk of alcohol‐induced liver disease in adulthood3
5‐year experience of a tertiary center in major congenital abnormalities in singleton pregnancies3
Abnormal placental cord insertion, hypertensive disorders of pregnancy and birth length may be involved in development of hypospadias in male fetuses3
Role of coxsackie‐adenovirus receptor in cardiac development and pathogenesis of congenital heart disease3
Gamma aminobutyric acid signaling disturbances and altered astrocytic morphology associated with Bisphenol A induced cognitive impairments in rat offspring3
Prevalence of critical congenital heart defects and selected co‐occurring congenital anomalies, 2014–2018: A U.S. population‐based study3
Vasoactive exposures and risk of amniotic band syndrome and terminal transverse limb deficiencies3
Clinical and neurodevelopmental outcomes based on brain imaging studies in a Colombian cohort of children with probable antenatal Zika virus exposure3
Myelomeningocele genotype–phenotype correlation findings in cilia, HH, PCP, and WNT signaling pathways3
Pregnancy in systemic lupus erythematosus3
Parietal bone agenesis and athelia in retinoic acid embryopathy: An expansion of the phenotype3
Behavioral and neuroinflammatory changes caused by glyphosate: Base herbicide in mice offspring3
Lesion‐specific mortality due to congenital heart disease in U.S. adults from 1999 to 20173
Periconceptional folic acid use prevents both rare and common neural tube defects in China3
Folic acid antagonist use before and during pregnancy and risk for selected birth defects3
Comparison of DNA methylation patterns across tissue types in infants with tetralogy of Fallot3
Dolutegravir and rat whole embryo culture3
Terminal transverse limb defects with “nubbins”3
Effect of buscopan, a compound that alleviates cramps, on the developing nervous system of the chick embryo3
Placental transfer of 125iodinated humanized immunoglobulin G2Δa in the cynomolgus monkey3
The risk of major structural birth defects associated with seasonal influenza vaccination during pregnancy: A population‐based cohort study3
The effect of different concentrations of cerium oxide during pregnancy on ovarian follicle development in neonatal mice3
Does it matter when I quit? Could I just cut down some? Links between trimester‐specific smoking amount, preterm birth, and low birth weight3
Choline ameliorates ethanol induced alterations in tyrosine phosphorylation and distribution in detergent‐resistant membrane microdomains of L1 cell adhesion molecule in vivo3
The possible effect of lactoferrin on the epigenetic characteristics of early mammalian embryos exposed to bisphenol A3
Combined effects of maternal exposure to fungicides on behavioral development in F1‐generation mice: 2. Fixed‐dose study of thiabendazole3
In vitro effects of citral on the human myometrium: Potential adjunct therapy to prevent preterm births3
Leveraging a phenome‐wide approach to identify novel exposure‐birth defect associations: A proof of concept using maternal smoking and a spectrum of birth defects3
Application of zebrafish in the study of craniomaxillofacial developmental anomalies3
Paternal exposure to recreational drugs before conception and its effect on live‐born offspring: A scoping review3
Maternal age and the prevalence of congenital heart defects in Europe, 1995–2015: A register‐based study3
Proportion of critical congenital heart defects attributable to unhealthy prepregnancy body mass index among women with live births in Florida, 2005–20163
Methoxyacetic acid inhibits histone deacetylase and impairs axial elongation morphogenesis of mouse gastruloids in a retinoic acid signaling‐dependent manner3
Pre‐pregnancy dietary arsenic consumption among women in the United States3
Describing characteristics of adults with and without congenital heart defects hospitalized with COVID‐193
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes3
Health‐related quality of life after 50 years in individuals with thalidomide embryopathy: Evidence from a German cross‐sectional survey3
Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries3