OOIR: Observatory of International Research

Papers

(The TQCC of Congenital Anomalies 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 2020-03-01 to 2024-03-01.)

Article	Citations
Association between antidepressant use during pregnancy and congenital anomalies in children: A retrospective cohort study based on Japanese claims data	11
A comparison of the maternal levels of serum proprotein convertase subtilisin/kexin type 9 in pregnant women with the complication of fetal open neural tube defects	10
Role of chimeric transcript formation in the pathogenesis of birth defects	9
Congenital heart diseases and parental occupational exposure in a Hungarian case‐control study in 1997 to 2002	8
Stage‐dependent function of Wnt5a during male external genitalia development	7
Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9	6
Potential role of viral infections in miscarriage and insights into the underlying molecular mechanisms	6
Application of geometric morphometrics for facial congenital anomaly studies	6
Morphologic changes in the cytoskeleton and adhesion apparatus during the conversion from pseudostratified single columnar to stratified squamous epithelium in the developing mouse esophagus	6
The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan	5
Current status and legal/ethical problems in the research use of the tissues of aborted human fetuses in Japan	5
“Unexpected event”: Having an infants with cleft lip and/or palate	4
Androgen/Wnt/β‐catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum	4
Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney‐urinary tract in pediatric Turner syndrome	4
Analysis of triptan use during pregnancy in Japan: A case series	3
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	3
Maternal administration of bisphenol A alters the microglial profile in the neocortex of mouse weanlings	3
Clinical characteristics of congenital toxoplasmosis with poor outcome in Japan: A nationwide survey and literature review	3
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	3
Changes in the birth prevalence of orofacial clefts in Japan: Has the birth prevalence of orofacial clefts been affected by improved accuracy of prenatal diagnosis?	3
Congenital anomalies in breech presentation: A nationwide record linkage study	3
MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico	3
ANO5‐associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype	3
Mini‐microform cleft lip with complete cleft alveolus and palate: A case report	3
Prenatal ultrasonographic findings and fetal/neonatal outcomes of body stalk anomaly	3

L‐NAME, a nitric oxide synthase inhibitor, increases the protein expression of both executioner and inhibitor of apoptosis in the placental bed of mid‐to‐late pregnant rats	3
A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family	3
An investigation into nutritional methods at the fifth day after birth of infants in association with cleft type and laterality	2
Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography	2
Unmasking a recessive allele by a deletion: Early prenatal diagnosis of Bardet‐Biedl syndrome in a Chinese family	2
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	2
Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement	2
Parenchymal calcification is associated with the neurological prognosis in patients with congenital rubella syndrome	2
Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X‐chromosome inactivation	2
The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children	2
Severe fetal anemia as a consequence of extra‐abdominal umbilical vein varix: A case report and review of the literature	2
Association between maternal smoking history and congenital anomalies in children: Results from the Japan Environment and Children's Study	2
Posterior cloaca: A rare subtype of a complex anorectal malformation	2
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases	2
Prevalence of open neural tube defects and risk factors related to isolated anencephaly and spina bifida in live births from the “Dr. Juan I. Menchaca” Civil Hospital of Guadalajara (Jalisco, Mexico)	2
Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study	2
Involvement of homeobox transcription factor Mohawk in palatogenesis	2
Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice	2
Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B	2
High anorectal malformation with atresia of the ascending colon—An unusual association	1
Sixtieth Annual Meeting of the Japanese Teratology Society: Strides made in congenital anomaly research in the past 60 years and future progress	1
Jejunal infantile fibrosarcoma: An unusual cause of neonatal intestinal obstruction	1
Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes	1
Examining the relationship between autism spectrum disorder and neural tube defects	1
Siblings with vascular Ehlers‐Danlos syndrome inherited via maternal mosaicism	1
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India	1
Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth	1
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	1
Clinical features of congenital complete vaginal atresia combined with cervical aplasia: A retrospective study of 19 patients and literature review	1
Periconceptional folic acid intake and disturbing factors: A single‐center study in Japan	1
Fetoscopic surgery for amniotic band syndrome: Case series	1
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant	1
Three‐dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome	1
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly	1
A predicting model of child‐bearing‐aged women’ spontaneous abortion by co‐infections of TORCH and reproductive tract	1
Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant	1
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration	1
Obituary for Dr. Robert L. Brent	1
Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate	1
Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy	1
Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome	1
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death	1
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	1
Novel variants in the PAX6 gene related to isolated aniridia	1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
Perinatal diagnosis of congenital urogenital sinus abnormality	1
Predisposing factors of non‐syndromic cleft lip and cleft palate in the northern Thai population: A 10‐year retrospective case–control study	1