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 2022-08-01 to 2026-08-01.)
ArticleCitations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis23
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome11
Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex9
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives9
Issue Information8
Announcement8
Issue Information7
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies7
Urinary Metabolic Screening Misled the Molecular Diagnosis of Xia–Gibbs Syndrome7
Evaluating the Role of VAX1 , MAFB 7
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Announcement6
Examining the relationship between autism spectrum disorder and neural tube defects6
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 pregnancy6
Late‐onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir6
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 16p5
Folic Acid Alleviates X‐Ray Irradiation‐Induced Jaw Malformation in Zebrafish5
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and sev4
Risk factors for isolated congenital heart defects in infants from Western Mexico4
Late diagnosis of Herlyn‐Werner‐Wunderlich syndrome: Is there a need for an early screening?4
Predictability of fetal pulmonary artery Doppler on neonatal outcomes in pregnant women with gestational diabetes mellitus4
Development and Dissemination of the Japanese Translation of the Mammalian Phenotype Ontology as an Open Resource4
Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate4
Reviewers4
Pyramidalis muscle formation during human embryonic and early fetal periods4
Postnatal Bimodal Dynamics and Androgen‐Induced Masculinization of the External Genitalia in Mice4
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
A Case of HNRNPU ‐Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions3
Non‐Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 83
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU ‐related neurodevelopmental disorder associated with a novel nonsense varian3
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan3
Questionnaire survey on public awareness of cleft lip with/without palate in Mongolia3
Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study3
Assisted reproduction and congenital malformations: A systematic review and meta‐analysis2
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low‐ and middle‐income countries2
Acknowledgement2
Improvement of speech function in submucous cleft palate through conservative treatment2
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Morphogenesis of the Extraocular Muscles During the Human Embryonic and Early Fetal Periods2
The Japanese Teratology Society 65th Annual Meeting July 25–27, 20252
Fetoscopic surgery for amniotic band syndrome: Case series2
Clarithromycin Use in the First Trimester Is Not Associated With Fetal Abnormalities2
Upper airway obstruction due to congenital epiglottic cyst: Report of two cases2
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis2
Cohort Study of Pregnancy Outcomes After Exposure to Fexofenadine or Olopatadine in the First Trimester2
Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background2
2
Issue Information2
Hypoplastic Left Heart Syndrome Variant With Unexpected Early Sudden Death in a Newborn Infant With ZTTK Syndrome1
Issue Information1
Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay1
Issue Information1
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development1
A safety signal for congenital strabismus associated with valproic acid: A pharmacovigilance analysis utilizing the FDA Adverse Event Reporting System database1
Long‐term follow‐up for the atypical radial longitudinal deficiency: A case report1
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome1
Abstracts1
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Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in‐utero mycophenolate mofetil exposure1
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan1
Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy1
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia1
Multifocal Neuroblastoma in Rubinstein–Taybi Syndrome Harboring a Novel CREBBP Variant Identified 1
Prenatal diagnosis of VACTERL association after early‐first trimester SARS‐COV‐2 infection1
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD21
Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia1
Cervical vertebrae fusion in elbow knee synostosis ( Eks )‐mutant mice with fibroblast growth factor 9 1
Revisiting ultrasonographic soft markers of aneuploidy: A thoughtful analysis in low‐risk and screening naïve Indian antenatal women1
Patients With Hereditary Hemorrhagic Telangiectasia Diagnosed by Nanopore Long Read Sequencer1
Hypoalbuminemia in newborns with gastroschisis1
Refractory congenital chylous ascites—Case report of a successful surgical management1
How Does the Human Herniated Midgut Loop Return to the Abdominal Cavity?1
Height difference between the right and left metanephroi during early human fetal development1
Early Intervention for Children With Cleft Palate: First Report on the Wechsler Preschool and Primary Scale of Intelligence at Age Four1
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