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 2020-11-01 to 2024-11-01.)

Article	Citations
Role of chimeric transcript formation in the pathogenesis of birth defects	13
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	11
The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan	10
Stage‐dependent function of Wnt5a during male external genitalia development	8
Potential role of viral infections in miscarriage and insights into the underlying molecular mechanisms	8
Congenital heart diseases and parental occupational exposure in a Hungarian case‐control study in 1997 to 2002	8
Application of geometric morphometrics for facial congenital anomaly studies	8
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	5
Androgen/Wnt/β‐catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum	5
“Unexpected event”: Having an infants with cleft lip and/or palate	5
Congenital anomalies in breech presentation: A nationwide record linkage study	4
A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family	4
Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate	4
Unmasking a recessive allele by a deletion: Early prenatal diagnosis of Bardet‐Biedl syndrome in a Chinese family	4
MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico	4
Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X‐chromosome inactivation	4
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	4
Mini‐microform cleft lip with complete cleft alveolus and palate: A case report	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
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)	3
Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant	3
Severe fetal anemia as a consequence of extra‐abdominal umbilical vein varix: A case report and review of the literature	3
Clinical features of congenital complete vaginal atresia combined with cervical aplasia: A retrospective study of 19 patients and literature review	3
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	3
Prenatal ultrasonographic findings and fetal/neonatal outcomes of body stalk anomaly	3

Examining the relationship between autism spectrum disorder and neural tube defects	3
Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography	3
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	3
Association between maternal smoking history and congenital anomalies in children: Results from the Japan Environment and Children's Study	3
Analysis of triptan use during pregnancy in Japan: A case series	3
Parenchymal calcification is associated with the neurological prognosis in patients with congenital rubella syndrome	3
The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children	3
Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study	3
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	3
Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome	2
Three‐dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome	2
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases	2
Expanded targeted screening for congenital cytomegalovirus infection	2
Involvement of homeobox transcription factor Mohawk in palatogenesis	2
Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement	2
Posterior cloaca: A rare subtype of a complex anorectal malformation	2
Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes	2
Evaluation of fetal myocardial performance index in gestational diabetes mellitus	2
Perinatal diagnosis of congenital urogenital sinus abnormality	2
Differential staining patterns of immunohistochemical markers for neurogenesis staging in the premature cerebellum of ferrets and mice	2
Fetoscopic surgery for amniotic band syndrome: Case series	2
An investigation into nutritional methods at the fifth day after birth of infants in association with cleft type and laterality	2
Novel variants in the PAX6 gene related to isolated aniridia	2
External ear anatomy and variations in neonates	2
A retrospective review of the association between maternal body mass index and the risk of congenital anomalies	1
Periconceptional folic acid intake and disturbing factors: A single‐center study in Japan	1
Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital	1
Upper lip abscess due to congenital sinus infection: A case report	1
Jejunal infantile fibrosarcoma: An unusual cause of neonatal intestinal obstruction	1
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly	1
Three‐dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period	1
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	1
A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin	1
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration	1
Response to “An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft”—“Misinterpreted facial foramen”	1
Predisposing factors of non‐syndromic cleft lip and cleft palate in the northern Thai population: A 10‐year retrospective case–control study	1
Pyramidalis muscle formation during human embryonic and early fetal periods	1
Sixtieth Annual Meeting of the Japanese Teratology Society: Strides made in congenital anomaly research in the past 60 years and future progress	1
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death	1
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant	1
Multiple hepatoblastomas with positive β‐catenin immunostaining as a potential indication for germline APC genetic testing: A case report	1
Risk of major birth defects after first‐trimester exposure to carbocisteine and ambroxol: A multicenter prospective cohort study using counseling data for drug safety during pregnancy	1
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India	1
Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non‐invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis	1
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	1
An easy‐to‐use semi‐automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft	1
Obituary for Dr. Robert L. Brent	1
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome	1
Germline mosaicism in a collagen VI‐related myopathy family: A cause of autosomal recessive inheritance	1
Investigation on the accumulation of background and pregnancy outcome information on cases consulted by the Japan Drug Information Institute in Pregnancy	1

Siblings with vascular Ehlers‐Danlos syndrome inherited via maternal mosaicism	1
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	1
A predicting model of child‐bearing‐aged women’ spontaneous abortion by co‐infections of TORCH and reproductive tract	1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth	1
Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center	1