Congenital Anomalies

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 2021-08-01 to 2025-08-01.)
ArticleCitations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis15
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome14
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives13
Announcement12
Retracted: A preliminary study on the quantification of soft palate movement using ultrasonography8
Issue Information7
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies6
Announcement6
Issue Information5
The association between the congenital heart diseases and congenital anomalies of the kidney and the urinary tract in nonsyndromic children5
5
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 pregnancy5
Announcement5
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant4
Pyramidalis muscle formation during human embryonic and early fetal periods4
Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus4
Examining the relationship between autism spectrum disorder and neural tube defects4
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 model4
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review4
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death4
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir4
Risk factors for isolated congenital heart defects in infants from Western Mexico4
Reviewers3
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 CRV3
Application of geometric morphometrics for facial congenital anomaly studies3
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing3
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate3
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations3
Issue Information3
Issue Information3
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement3
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles3
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?3
Acknowledgement2
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU‐related neurodevelopmental disorder associated with a novel nonsense variant2
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 82
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis2
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan2
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis2
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly2
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries2
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia2
Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study2
Issue Information2
1
Fetoscopic surgery for amniotic band syndrome: Case series1
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia1
Refractory congenital chylous ascites—Case report of a successful surgical management1
Issue Information1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development1
Height difference between the right and left metanephroi during early human fetal development1
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration1
1
Analysis of triptan use during pregnancy in Japan: A case series1
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background1
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report1
Issue Information1
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia1
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database1
Issue Information1
Improvement of speech function in submucous cleft palate through conservative treatment1
How commonly can we see esophageal atresia in both dizygotic twins?1
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases1
1
Issue Information1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection1
Hypoalbuminemia in newborns with gastroschisis1
1
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