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 2021-09-01 to 2025-09-01.)
ArticleCitations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis16
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 ultrasonography7
Announcement6
Issue Information6
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies6
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
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir5
Announcement5
5
Issue Information5
Examining the relationship between autism spectrum disorder and neural tube defects5
Reviewers4
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review4
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
Issue Information4
Pyramidalis muscle formation during human embryonic and early fetal periods4
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant4
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate4
Risk factors for isolated congenital heart defects in infants from Western Mexico4
Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus4
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU‐related neurodevelopmental disorder associated with a novel nonsense variant3
Two new patients with focal dermal hypoplasia: A novelPORCNvariant and insights on the diagnostic considerations3
Issue Information3
Application of geometric morphometrics for facial congenital anomaly studies3
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles3
Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement3
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?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 CRV3
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing3
Issue Information2
Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study2
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries2
How commonly can we see esophageal atresia in both dizygotic twins?2
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis2
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia2
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis2
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant2
Acknowledgement2
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background2
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly2
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 82
Fetoscopic surgery for amniotic band syndrome: Case series2
Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia2
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases2
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound1
Issue Information1
Issue Information1
Issue Information1
Analysis of triptan use during pregnancy in Japan: A case series1
1
1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia1
Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay1
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD21
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development1
Hypoalbuminemia in newborns with gastroschisis1
Refractory congenital chylous ascites—Case report of a successful surgical management1
1
Improvement of speech function in submucous cleft palate through conservative treatment1
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration1
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database1
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan1
Issue Information1
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome1
1
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report1
Issue Information1
Height difference between the right and left metanephroi during early human fetal development1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection1
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