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 2021-06-01 to 2025-06-01.)

Article	Citations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	13
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	12
Announcement	12
Retracted: A preliminary study on the quantification of soft palate movement using ultrasonography	11
Announcement	10
Issue Information	10
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	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
The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children	6
	5
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant	5
Examining the relationship between autism spectrum disorder and neural tube defects	5
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death	5
Announcement	5
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	5
Reviewers	4
Risk factors for isolated congenital heart defects in infants from Western Mexico	4
Issue Information	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
Pyramidalis muscle formation during human embryonic and early fetal periods	4
Application of geometric morphometrics for facial congenital anomaly studies	3
Issue Information	3
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	3
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	3

Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	3
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	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
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	3
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	3
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	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
Issue Information	2
Acknowledgement	2
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia	2
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	2
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU‐related neurodevelopmental disorder associated with a novel nonsense variant	2
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries	2
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant	2
Analysis of triptan use during pregnancy in Japan: A case series	2
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	2
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis	2
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	2
Fetoscopic surgery for amniotic band syndrome: Case series	2
How commonly can we see esophageal atresia in both dizygotic twins?	2
	1
Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure	1
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan	1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database	1
Issue Information	1
	1
Improvement of speech function in submucous cleft palate through conservative treatment	1
	1
Issue Information	1
Three‐dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome	1
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound	1
Issue Information	1
Issue Information	1
Hypoalbuminemia in newborns with gastroschisis	1
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	1
Issue Information	1
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development	1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia	1
The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan	1
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2	1
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome	1
Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay	1
Height difference between the right and left metanephroi during early human fetal development	1
	1
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	1
	1

The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration	1
Issue Information	1