OOIR: Observatory of International Research

Papers

(The TQCC of Congenital Anomalies is 2. 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 2022-01-01 to 2026-01-01.)

Article	Citations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	21
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	17
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives	14
Announcement	13
Issue Information	8
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	7
Announcement	7
Issue Information	7
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	7
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	6
Comparative study on detectability of learning and memory disorder between two water maze tests commonly used in juvenile rat toxicity studies using isoflurane inhaled rat model	6
	6
Examining the relationship between autism spectrum disorder and neural tube defects	6
Pyramidalis muscle formation during human embryonic and early fetal periods	5
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	5
Reviewers	5
Co‐Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha‐Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p	5
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and sev	5
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	5
Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus	5
Risk factors for isolated congenital heart defects in infants from Western Mexico	5
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	5
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	4
Application of geometric morphometrics for facial congenital anomaly studies	4
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	4

Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	4
Ureteropelvic junction obstruction (UPJ) due to congenital crossing of the renal vessels (CRV): Comparison of the pre‐ and postoperative features of UPJO with and without CRV	4
Issue Information	4
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	4
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU ‐related neurodevelopmental disorder associated with a novel nonsense varian	3
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8	3
The Japanese Teratology Society 65th Annual Meeting July 25–27, 2025	3
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	3
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	3
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	3
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	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
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	3
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	3
Acknowledgement	2
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	2
Analysis of triptan use during pregnancy in Japan: A case series	2
	2
Refractory congenital chylous ascites—Case report of a successful surgical management	2
Issue Information	2
Fetoscopic surgery for amniotic band syndrome: Case series	2
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	2
Improvement of speech function in submucous cleft palate through conservative treatment	2
	2
Issue Information	2
How commonly can we see esophageal atresia in both dizygotic twins?	2
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	2
	2
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	2
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration	2