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 2021-05-01 to 2025-05-01.)

Article	Citations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	11
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	11
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	10
Retracted: A preliminary study on the quantification of soft palate movement using ultrasonography	10
Announcement	10
Issue Information	9
Announcement	8
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	6
Announcement	5
	5
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	5
The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children	5
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant	4
Examining the relationship between autism spectrum disorder and neural tube defects	4
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	4
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death	4
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	3
Risk factors for isolated congenital heart defects in infants from Western Mexico	3
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	3
Pyramidalis muscle formation during human embryonic and early fetal periods	3
Application of geometric morphometrics for facial congenital anomaly studies	3
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	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
Issue Information	3

Reviewers	3
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	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	2
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	2
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	2
Issue Information	2
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant	2
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	2
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	2
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU‐related neurodevelopmental disorder associated with a novel nonsense variant	2
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	2
Acknowledgement	2
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	2
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	2
Issue Information	2
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	2
Fetoscopic surgery for amniotic band syndrome: Case series	2
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
Hypoalbuminemia in newborns with gastroschisis	1
Improvement of speech function in submucous cleft palate through conservative treatment	1
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	1
Obituary for Dr. Robert L. Brent	1
	1
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome	1
Issue Information	1
MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico	1
	1
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration	1
	1
	1
Analysis of triptan use during pregnancy in Japan: A case series	1
How commonly can we see esophageal atresia in both dizygotic twins?	1
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	1
	1
Issue Information	1
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database	1
Height difference between the right and left metanephroi during early human fetal development	1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development	1
Announcement	1
Issue Information	1
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	1
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	1
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	1
Issue Information	1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia	1