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 2022-05-01 to 2026-05-01.)
ArticleCitations
Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex23
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis20
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome10
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives9
Announcement9
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies8
Issue Information8
Issue Information8
Announcement7
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 pregnancy7
7
Examining the relationship between autism spectrum disorder and neural tube defects6
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 16p6
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir6
Postnatal Bimodal Dynamics and Androgen‐Induced Masculinization of the External Genitalia in Mice5
Pyramidalis muscle formation during human embryonic and early fetal periods5
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and sev5
Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus5
Reviewers5
Risk factors for isolated congenital heart defects in infants from Western Mexico5
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 CRV4
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate4
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia4
A Case of HNRNPU ‐Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions4
Issue Information4
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?4
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU ‐related neurodevelopmental disorder associated with a novel nonsense varian4
Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing4
Excessive folic acid intake combined with undernutrition during gestation alters offspring behavior and brain monoamine profiles4
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 84
Intra‐abdominal umbilical vein varix in a neonate with polysyndactyly4
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan3
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis3
Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study3
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis3
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant2
Fetoscopic surgery for amniotic band syndrome: Case series2
Clarithromycin Use in the First Trimester Is Not Associated With Fetal Abnormalities2
2
Improvement of speech function in submucous cleft palate through conservative treatment2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries2
Cohort Study of Pregnancy Outcomes After Exposure to Fexofenadine or Olopatadine in the First Trimester2
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases2
Issue Information2
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report2
The Japanese Teratology Society 65th Annual Meeting July 25–27, 20252
Acknowledgement2
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background2
2
Refractory congenital chylous ascites—Case report of a successful surgical management2
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome1
Issue Information1
Height difference between the right and left metanephroi during early human fetal development1
Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy1
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD21
Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound1
Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure1
How Does the Human Herniated Midgut Loop Return to the Abdominal Cavity?1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia1
Hypoalbuminemia in newborns with gastroschisis1
Issue Information1
Early Intervention for Children With Cleft Palate: First Report on the Wechsler Preschool and Primary Scale of Intelligence at Age Four1
Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer1
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection1
Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay1
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan1
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