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 2022-06-01 to 2026-06-01.)

Article	Citations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	23
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	10
Announcement	9
Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex	9
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives	9
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	8
Issue Information	8
Urinary Metabolic Screening Misled the Molecular Diagnosis of Xia–Gibbs Syndrome	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
Issue Information	7
Examining the relationship between autism spectrum disorder and neural tube defects	6
Announcement	6
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir	6
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	6
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Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus	5
Pyramidalis muscle formation during human embryonic and early fetal periods	5
Risk factors for isolated congenital heart defects in infants from Western Mexico	5
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and sev	5
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
Postnatal Bimodal Dynamics and Androgen‐Induced Masculinization of the External Genitalia in Mice	4
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	4
Issue Information	4
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	4
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU ‐related neurodevelopmental disorder associated with a novel nonsense varian	4

Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	4
Reviewers	4
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	4
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly	3
A Case of HNRNPU ‐Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions	3
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan	3
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8	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
Morphogenesis of the Extraocular Muscles During the Human Embryonic and Early Fetal Periods	2
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant	2
Improvement of speech function in submucous cleft palate through conservative treatment	2
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases	2
Acknowledgement	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
Fetoscopic surgery for amniotic band syndrome: Case series	2
Clarithromycin Use in the First Trimester Is Not Associated With Fetal Abnormalities	2
The Japanese Teratology Society 65th Annual Meeting July 25–27, 2025	2
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis	2
Cohort Study of Pregnancy Outcomes After Exposure to Fexofenadine or Olopatadine in the First Trimester	2
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background	2
Issue Information	2
Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer	1
Cervical vertebrae fusion in elbow knee synostosis ( Eks )‐mutant mice with fibroblast growth factor 9	1
Issue Information	1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia	1
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	1
Issue Information	1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection	1
Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure	1
Early Intervention for Children With Cleft Palate: First Report on the Wechsler Preschool and Primary Scale of Intelligence at Age Four	1
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan	1
Hypoalbuminemia in newborns with gastroschisis	1
Height difference between the right and left metanephroi during early human fetal development	1
Refractory congenital chylous ascites—Case report of a successful surgical management	1
Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy	1
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2	1
	1
Revisiting ultrasonographic soft markers of aneuploidy: A thoughtful analysis in low‐risk and screening naïve Indian antenatal women	1
Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay	1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development	1
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database	1
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	1
How Does the Human Herniated Midgut Loop Return to the Abdominal Cavity?	1
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome	1