Birth Defects Research

Papers
(The median citation count of Birth Defects Research is 1. 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 2021-09-01 to 2025-09-01.)
ArticleCitations
Believing in science64
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Developmental exposure to the flame retardant, triphenyl phosphate, causes long‐lasting neurobehavioral and neurochemical dysfunction28
Society for birth defects research and prevention's multidisciplinary research needs workshop 2022: A call to action24
Protective Role of Vitamin B6 Against Teratogenic Effects Induced by Lead in Chick Embryo23
Dolutegravir and rat whole embryo culture23
Maternal cigarette smoking and alcohol consumption and congenital diaphragmatic hernia22
Community‐Engaged Research and the Use of Open Access ToxVal/ToxRef In Vivo Databases and New Approach Methodologies (NAM) to Address Human Health Risks From Environme21
Prenatal Exposure to Methamphetamine and Its Association With Birth Outcomes: A Meta‐Analysis21
Reply to Correspondence “Beyond Aggregate Risk: Drug‐ and Organ‐Specific Nuances in Counseling on Antidepressant Teratogenicity” (Tsai et al. 2025)21
How Does Maternal Lipopolysaccharide Exposure Impact Prenatal Testicular Development in Rats, and Could α‐Tocopherol Provide a Protective Effect? A Histological, Immunohistochemical and Biochemical St19
Domestic Use of Solvents and Pesticides and the Risk of Hypospadias in Offspring: A Case–Control Study From Brittany, France18
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Application of zebrafish in the study of craniomaxillofacial developmental anomalies16
Evaluating the proportion of isolated cases among a spectrum of birth defects in a population‐based registry16
A narrative review of exercise dose during pregnancy14
Transmission of behavioral and cognitive impairments across generations in rats subjected to prenatal valproic acid exposure14
Absence of developmental and reproductive toxicity in rats, rabbits, and zebrafish embryos exposed to antimalarial drug cabamiquine14
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In vitro fertilization and pregnancy outcomes of women with X chromosome abnormality: A case series12
Developmental safety of nirmatrelvir in zebrafish (Danio rerio) embryos12
Using a health observance event to raise awareness: An assessment of World Birth Defects Day12
Reversible effects on female rat fertility with abrocitinib, a Janus kinase 1 inhibitor12
Cannabidiol impairs neural tube closure in mouse whole embryo culture12
Developmental toxicity induced by brodifacoum in zebrafish (Danio rerio) early life stages12
Otocephaly Diagnosed Prenatally: A Case Study of a Rare Congenital Defect12
Emerging understanding of the effects of cannabis use during pregnancy12
Antifungal medication use during early pregnancy and the risk of congenital heart defects in the National Birth Defects Prevention Study, 1997–201112
Potential risk factors for hypospadias and negative correlation with DICER1 (rs3742330) A>G variant in Algerian population: A case‐control study11
A comparison of infants' birth defects self‐reported by mothers with data provided by general practitioners: Data from the Dutch Pregnancy Drug Register10
Identifying possible inaccuracy in reported birth head circumference measurements among infants in the US Zika Pregnancy and Infant Registry10
Assessing the Readability, Credibility, and Accuracy of Online Vaccine Information for Pregnant and Lactating Individuals: A Cross‐Platform Analysis10
Prevalence of critical congenital heart defects and selected co‐occurring congenital anomalies, 2014–2018: A U.S. population‐based study10
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Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism10
Outcome of children with multicystic dysplastic kidney: Does involved side matter?10
A case of Williams syndrome with Wolff–Parkinson–White syndrome10
Why Has Gastroschisis Increased Over Time and Why Is It More Common in Infants of Young Mothers?10
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Assessing Environmental Risks Factors in Anorectal Malformations: Case Report and Literature Review10
Publicly funded healthcare costs associated with orofacial clefts for children born in Alberta, Canada between 2002 and 20189
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A new 90‐day drinking water study of sodium cyanide in rats to further evaluate National Toxicology Program findings and inform risk assessment9
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Valproic acid induced selective apoptosis of ocular fibrous tunic in mice fetuses9
Malarial PI4K inhibitor induced diaphragmatic hernias in rat: Potential link with mammalian kinase inhibition9
Ezh2‐dependent methylation in oral epithelia promotes secondary palatogenesis8
Juvenile toxicity study of PF‐07256472/recifercept, a recombinant human soluble fibroblast growth factor receptor 3, in 2–3‐month‐old cynomolgus monkeys8
Issue Information8
Enhancing the Classification of Congenital Heart Defects for Outcome Association Studies in Birth Defects Registries8
MTHFR promoter methylation might mitigate the effect of smoking at the level of LINE‐1 in cleft lip tissues: A preliminary study8
Translational potential of hiPSCs in predictive modeling of heart development and disease8
An assessment of the reliability of 52 enhanced preliminary embryofetal development studies to detect developmental toxicity8
Determination and analysis of sex ratios in heme oxygenase 1 gene targeted mouse embryos8
MotherToBaby and CDC: Partnering to Provide a Rapid and Personalized Response to COVID‐19 Vaccine Inquiries During Pregnancy and Lactation8
Use of vasoactive medications in pregnancy and the risk of stillbirth among birth defect cases7
Chloroacetonitrile reduces rat prenatal bone length and induces oxidative stress, apoptosis, and DNA damage in rat fetal liver7
Issue Information7
Post‐mortem rapid aneuploidy testing for holoprosencephaly7
World health assembly resolution for preventing micronutrient deficiencies and associated neural tube defects—A case study of global partnerships for a successful resolution adoption7
Birth defects surveillance: Working together to advance science7
Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao7
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Correction to “Determination and analysis of sex ratios in heme oxygenase 1 gene targeted mouse embryos”7
Correction to “Comments on “Maternal–fetal safety evaluation of an aqueous extract of Casearia sylvestris [AECS] leaves in rats” (Nagaoka et al., 2023 [DOI: 10.1002/bdr2.27
Rodent anogenital distance recommendations7
Intake of Trans‐Fat Diet With Prenatal Bisphenol A Exposure Induce Global DNA Methylation in Rats Offspring7
Birth outcomes following in utero co‐exposure to tobacco and marijuana7
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Embryo‐fetal safety evaluation of ondansetron in rats7
Racial and ethnic differences in infant survival for hydrocephaly—Texas, 1999–20177
Paternal Valproate Treatment and Risk of Childhood Neurodevelopmental Disorders: Precautionary Regulatory Measures Are Insufficiently Substantiated7
Hypothesized pathogenesis of acardius acephalus, acormus, amorphus, anceps, acardiac edema, single umbilical artery, and pump twin risk prediction6
Knowledge of periconceptional folic acid supplementation and associated factors among pregnant women attending antenatal care at public health facilities in Hawassa, South Ethiopia6
Survival of Children With Critical Congenital Heart Defects in the National Birth Defects Prevention Study6
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A global update on the status of prevention of folic acid‐preventable spina bifida and anencephaly in year 20226
The outcome and complications of modern staged repair surgery in newborns with classic bladder exstrophy in different genders: A retrospective study6
Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects6
PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome6
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Sex‐dependent alterations of inflammatory factors, oxidative stress, and histopathology of the brain‐gut axis in a VPA‐induced autistic‐like model of rats6
Ascertainment of malformations in pregnancy registries: Lessons learned in the North American AED Pregnancy Registry6
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 ne6
Protective effect of Agaricus bisporus mushroom against maternal and fetal damage induced by lead administration during pregnancy in rats6
Periconceptional use of vitamin A and the risk of giving birth to a child with nonsyndromic orofacial clefts—A meta‐analysis6
Behavioral and neuroinflammatory changes caused by glyphosate: Base herbicide in mice offspring5
Revisiting the testicular toxicity of cyanide: Assessment of the new and existing literature5
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Risk of birth defects by pregestational type 1 or type 2 diabetes: National Birth Defects Prevention Study, 1997–20115
Population‐based surveillance for birth defects potentially related to Zika virus infection including 3‐year mortality and developmental outcomes, and Early Intervention Program service use—New York C5
Comparative anatomy, pre‐ and postnatal changes during the development and maturation of the small intestine: Life‐stage influences on exposure5
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Sodium valproate exposure influences the expression of pparg in the zebrafish model5
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Mycophenolate mofetil exposure on embryonic and fetal ear development in rats during pregnancy5
Protective effect of quercetin on fetal development and congenital skeletal anomalies against exposure of pregnant Wistar rats to crude oil vapor5
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Maternal Separation Exhibits a Sex Dimorphism in Memory Impairments in Adolescent Rats: Acute Methylphenidate Administration as a Treatment5
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Assessment of postnatal femur development in Wistar Han rats5
Life Course Considerations in Environmental Health: Developmental Neurotoxicity of Domoic Acid at Doses Below Acute Effect Levels in Adult Humans5
Multiple subtypes of coxsackievirus group B can cause congenital heart disease5
A multi‐program analysis of cleft lip with cleft palate prevalence and mortality using data from 22 International Clearinghouse for Birth Defects Surveillance and Research programs, 1974–20145
Maternal exposure to heparin products and risk of birth defects in the National Birth Defects Prevention Study5
Homozygous LOXL2 variant in individuals affected by non‐syndromic occipital encephalocele5
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A Generalized Machine Learning Model for Identifying Congenital Heart Defects (CHDs) Using ICD Codes5
Recommendation to change the peer review process5
Gestational exposure to continuous light impairs the development of the female reproductive system in adult Wistar rat offspring5
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Reproductive and neurobehavioral effects of maternal exposure to dinotefuran in the F1‐generation mice5
Maternal Exposure to Tap Water Disinfection By‐Products and Risk of Selected Congenital Heart Defects5
A case‐control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 20204
In‐utero cannabis exposure and long‐term psychiatric and neurodevelopmental outcomes: The limitations of existing literature and recommendations for future research4
Subdivided Historical Data to Assess Replicability of the Rat Embryo‐Fetal Developmental Toxicity Study4
Hypothesis: By‐products of vascular disruption carried in the CSF affect prenatal brain development4
Early pregnancy vitamin D status and risk of select congenital anomalies in the National Birth Defects Prevention Study4
Maternal diabetes as a teratogenic factor for congenital heart defects in infants of diabetic mothers4
Prenatal alcohol exposure can be determined from baby teeth: Proof of concept4
Temporal Trends of Infant Mortality Secondary to Congenital Heart Disease: National CDC Cohort Analysis (1999–2020)4
Comparing Folic Acid Interventions and Arsenic Reduction Strategies for Neural Tube Defect Prevention in Bangladesh: A Systematic Review and Decision Analysis4
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Analysis of incidence data in developmental toxicity studies: Statistical tests to account for litter effects in fetal defect data4
The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study4
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
Blastocyst Cavity Expansion Promotes Cell Polarization During Early Development of Mouse Embryos4
A Supra‐Numerary Limb Grafted Onto a Sacrococcygeal Mass in a Child With Spinal Dysraphism: Case Report, Dysmorphogenesis, and Management Review4
Association Between Self‐Reported Infections and Seropositivity Among Pregnant Women With Gastroschisis: A Case Control Study, With Emphasis on Chlamydia trachomatis4
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Factors associated with Medicaid participation among infants born with birth defects in Texas, 2010–20144
Pregnancy and infant outcomes by trimester of SARS‐CoV‐2 infection in pregnancy–SET‐NET, 22 jurisdictions, January 25, 2020–December 31, 20204
Gestational exposure to triphenyl phosphate induces epigenetic modifications in C57Bl/6 fetal liver4
Beyond Aggregate Risk: Drug‐ and Organ‐Specific Nuances in Counseling on Antidepressant Teratogenicity4
Epigenetic regulation of craniofacial development and disease4
Quantitative in vitro to in vivo extrapolation for developmental toxicity potency of valproic acid analogues3
Alobar holoprosencephaly in mining‐related areas of the Eastern region of the Democratic Republic of the Congo: A case series3
Describing characteristics of adults with and without congenital heart defects hospitalized with COVID‐193
Investigation of the impact of AXL, TLR3, and STAT2 in congenital Zika syndrome through genetic polymorphisms and protein–protein interaction netw3
Additional evidence for the vascular disruption defect hypothesis in a novel case of brainstem disconnection syndrome3
Issue Information3
Regulation of Oct4 in stem cells and neural crest cells3
Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980–20173
Factors associated with infant sex and preterm birth status for selected birth defects from the National Birth Defects Prevention Study, 1997–20113
Prevalence of neural tube defects, maternal HIV status, and antiretroviral therapy from a hospital‐based birth defect surveillance in Kampala, Uganda3
Observed Prevalence of Congenital Situs Inversus in the United States Before and During the SARSCoV‐2 Pandemic, 2017–20223
Is gastroschisis associated with county‐level socio‐environmental quality during pregnancy?3
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Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome3
Climate and environmental changes exacerbate health disparities in pregnant people and their offspring. How can we protect women and their babies?3
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High glucose impairs osteogenic differentiation of embryonic stem cells via early diversion of beta‐catenin from Forkhead box O to T cell factor interaction3
Co‐occurrence of congenital anomalies by maternal race/ethnicity among infants and fetuses with Down syndrome, 2013–2017: A U.S. population‐based analysis3
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Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries3
The timing, duration, and severity of nausea and vomiting of pregnancy and adverse birth outcomes among controls without birth defects in the National Birth Defects Prevention Study3
Investigating the association between vitamin D dietary intake during pregnancy and incidence of clubfoot in neonates3
Daphne Trasler: In memoriam3
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Early childhood outcomes of NICU graduates with cytomegalovirus infection in California3
Maternal Age‐Related Gender Bias in Trisomy 21 and Trisomy 183
Measurement of Androgen‐Sensitive Preweaning Developmental Landmarks in Rodents: Best Practices and Toxicological Significance3
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Neighborhood social deprivation and healthcare utilization, disability, and comorbidities among young adults with congenital heart defects: Congenital heart survey to recognize outcomes, needs, and we3
Implications of abortion legislation on birth defect surveillance3
Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study3
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Bladder augmentation in exstrophy vesicae: Long‐term results of a single experienced center3
Prophylactic use of cardiac medications for delay of left ventricular dysfunction in Duchenne muscular dystrophy3
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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
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Natural history study of Pseudoachondroplasia: A focus on oral health3
Hdac1 and Hdac2 positively regulate Notch1 gain‐of‐function pathogenic signaling in committed osteoblasts of male mice3
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The prenatal use of agmatine prevents social behavior deficits in VPA‐exposed mice by activating the ERK/CREB/BDNF signaling pathway3
Maternal immunization with Group B Streptococcus six‐valent polysaccharide conjugate vaccine supported by lack of toxicity in rat and rabbit fertility and developmental toxicity stud2
Impact of perinatal exposure counseling on patient reported emotional outcomes and decisional empowerment2
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Fever and antibiotic use in maternal urinary tract infections during pregnancy and risk of congenital heart defects: Findings from the National Birth Defects Prevention Study2
COVID‐19 Vaccination During Pregnancy and Birth Defects: Results From the CDC COVID‐19 Vaccine Pregnancy Registry, United States 2021–20222
Evaluation of gadolinium‐based contrast agents in pregnant CD‐1 mice and subsequent in utero exposure of the developing offspring, including behavioral evaluations2
Mechanical dissection and culture of mouse cranial neural crest cells2
A machine learning model for predicting congenital heart defects from administrative data2
Concomitant genetic defects potentiate the adverse impact of prenatal alcohol exposure on cardiac outflow tract maturation2
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene2
Toward better assessments of developmental toxicity using stem cell‐based in vitro embryogenesis models2
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HESI workshop summary: Interpretation of developmental and reproductive toxicity endpoints and the impact on data interpretation of adverse events2
Prenatal epigenetic factors are predisposing for neurodevelopmental disorders—Considering placenta as a model2
New classification of the penoscrotal positional anomalies2
Teratogenesis and the epigenetic programming of congenital defects: Why paternal exposures matter2
Genitourinary infection and gastroschisis: A systematic review and meta‐analysis2
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Reproductive and neurobehavioral effects of dinotefuran in an F1‐generation toxicity study in mice2
Parietal bone agenesis and athelia in retinoic acid embryopathy: An expansion of the phenotype2
Folate and vitamin B12 status and predicted neural tube defects risk among nonpregnant women of reproductive age from the Malawi National Micronutrient Survey, 2015–202
Retrospective analysis of neurological findings in esophageal atresia: Allostatic load of disease complexity, cumulative sedation, and anesthesia exposure2
Society for Birth Defects Research and Prevention Symposium: Health Disparities Within Communities of Color2
Prevention and awareness of birth defects across the lifespan using examples from congenital heart defects and spina bifida2
Integration and application of new approach methodologies in assessing the developmental hazards: Case study with an antimalarial drug2
2021 U.S. Virgin Islands Zika health brigade: Providing recommended pediatric health screenings for children born to mothers with laboratory evidence of possible Zika virus infection during pregnancy2
Cardiovascular function during early development is suppressed by cinnamon flavored, nicotine‐free, electronic cigarette vapor2
Effect of tramadol hydrochloride on neural tube development in 48‐hr chick embryos: Argyrophilic nucleolar organizing region and genetic analysis study2
Evaluating endocrine disrupting chemicals: A perspective on the novel assessments in CLARITY‐BPA2
High‐throughput detection of craniofacial defects in fluorescent zebrafish2
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High glucose‐increased miR‐200c contributes to cellular senescence and DNA damage in neural stem cells2
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Review: Hormone Pregnancy Tests Were Teratogenic by the Same Failed Abortion and Hypoxia‐Related Mechanism as Misoprostol2
COL1A1 regulates the apoptosis of embryonic stem cells by mediating the PITX1/TBX4 signaling2
Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case–control study2
Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split‐Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study2
Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects2
Real‐world prevalence, time of diagnosis, and co‐occurrence patterns of birth defects in live‐born infants, 2014–2020: A health administrative database study in Japan2
From the Editor‐in‐Chief: Birth Defects Research 20232
BDR Reviewer Thank You2
Correction to Food Fortification Ineffective in Preventing Neural Tube Defects in India due to Regulation Promoting Inadequate Levels of Folic Acid and Vitamin B122
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Risk of birth defects in pregnant persons with sleep‐disordered breathing during pregnancy2
Functional Evaluation of Neural Tube Defect‐Related Missense Mutations Using In Silico Methods2
Evaluation of Gadolinium‐Based Contrast Agents in Juvenile Non‐Human Primates Including Behavioral Evaluations Such as Learning and Memory2
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Animal evidence considered in determination of cannabis smoke and Δ9‐tetrahydrocannabinol as causing reproductive toxicity (developmental endpoint); Part I. Somatic development2
Survival of infants and children born with severe microcephaly, Texas, 1999–20152
The relationship between maternal periconceptional micronutrient supplementation and non‐syndromic cleft lip/palate in offspring2
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Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study2
Conjoined twins and conjoined triplets: At the heart of the matter2
Childhood Educational Outcomes of Infants Born With Esophageal Atresia With or Without Tracheoesophageal Fistula2
The miR‐17‐92 cluster in cardiac health and disease2
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Elucidating arrhythmogenic right ventricular cardiomyopathy with stem cells2
Docosahexaenoic acid, eicosapentaenoic acid, arachidonic acid, and neural tube defects in Tunisian population2
Combined effects of maternal exposure to fungicides on behavioral development in F1‐generation mice: 3. Fixed‐dose study of imazalil2
A search for factors associated with reduced carbohydrate intake and NTD risk in two population‐based studies1
A critical look at adjusted fetal weights in rats1
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Construction and analysis of a joint diagnostic model of machine learning for cryptorchidism based on single‐cell sequencing1
Teratogenic Effects of Serotonin Receptor 2B Disruption on the Migration and Cardiac Derivatives of the Cardiac Neural Crest1
Expanding the Massachusetts Birth Defects Monitoring Program to include additional pregnancy outcomes: Programmatic efforts and impacts on case ascertainment, 2012–20201
Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings1
Six‐month survival of a monochorionic monoamniotic twin with sirenomelia1
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