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 2021-10-01 to 2025-10-01.)

Article	Citations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	16
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	15
Announcement	13
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives	13
Retracted: A preliminary study on the quantification of soft palate movement using ultrasonography	8
Announcement	6
Issue Information	6
Issue Information	6
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	6
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	6
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	5
Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus	5
Announcement	5
Examining the relationship between autism spectrum disorder and neural tube defects	5
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant	5
	5
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	5
Issue Information	4
Pyramidalis muscle formation during human embryonic and early fetal periods	4
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	4
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review	4
Reviewers	4
Risk factors for isolated congenital heart defects in infants from Western Mexico	4
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	3
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	3

Application of geometric morphometrics for facial congenital anomaly studies	3
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	3
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	3
Issue Information	3
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	3
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	3
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU‐related neurodevelopmental disorder associated with a novel nonsense variant	3
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	2
Analysis of triptan use during pregnancy in Japan: A case series	2
Fetoscopic surgery for amniotic band syndrome: Case series	2
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	2
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	2
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	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
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8	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
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	2
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	2
Improvement of speech function in submucous cleft palate through conservative treatment	2
Issue Information	2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	2
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	2
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	2
Acknowledgement	2