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 2021-04-01 to 2025-04-01.)

Article	Citations
Breast reconstruction via fat grafting for a patient with bilateral congenital amastia (Finlay‐Marks syndrome)	11
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles	11
Perinatal diagnosis of congenital urogenital sinus abnormality	10
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome	10
	8
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement	8
Announcement	8
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis	7
Paper box fixation for femur fractures in an infant with osteogenesis imperfecta	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	5
Involvement of homeobox transcription factor Mohawk in palatogenesis	4
Issue Information	4
Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis	4
Announcement	4
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report	4
Odontoma and other congenital dental anomalies: Implications for forensic identification	3
3D printed bionic ear and microtia‐anotia: Medical and forensic implications	3
	3
Abstracts	3
	3
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing	3
Reviewers	3
Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center	3
Application of geometric morphometrics for facial congenital anomaly studies	3
Issue Information	3

Acknowledgments	3
Karyotype and phenotype association in Turner syndrome with non‐mosaic X chromosome structural rearrangements: Systematic review	3
Hypoalbuminemia in newborns with gastroschisis	2
	2
Congenital cardiac anomalies in non‐syndromic cleft lip and cleft palate patients: A systematic review and meta‐analysis	2
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations	2
Issue Information	2
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?	2
The prevalence and characteristics of polydactyly in neonates: A retrospective study of two tertiary hospitals in Saudi Arabia	2
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate	2
Announcement	2
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies	2
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration	2
External ear anatomy and variations in neonates	2
Issue Information	2
Issue Information	2
Androgen/Wnt/β‐catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum	1
Secular decrease in chromosomal mosaicism in cultured and uncultured peripheral blood cells of six patients with mosaic Down syndrome	1
A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family	1
Issue Information	1
Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report	1
Potential role of viral infections in miscarriage and insights into the underlying molecular mechanisms	1
A variant in the LDL receptor‐related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin	1
Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non‐invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis	1
A rare congenital esophageal anomaly mimicking an isolated esophageal atresia: Kluth Type IV_1a membranous esophageal atresia	1
	1
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia	1
Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth	1
	1
Complementary mRNA expression of enzymes producing nitric oxide and prostaglandin in ductus arteriosus with respect to their role in maintaining patency	1
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU‐related neurodevelopmental disorder associated with a novel nonsense variant	1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia	1
	1
	1
Issue Information	1
Retracted: A preliminary study on the quantification of soft palate movement using ultrasonography	1
MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico	1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development	1
Comparison of CDHSG model and PCO₂ in predicting mortality risk in patients with congenital diaphragmatic hernia	1
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption	1
Prevention of cleft lip and/or palate in A/J mice by licorice solution	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
Announcement	1
Height difference between the right and left metanephroi during early human fetal development	1