Case Reports in Genetics is an open access journal publishing case reports and case series focusing on diseases caused by hereditary predisposition or genetic variation in individuals and families.

Journal Metrics

  • 42%Acceptance rate
  • 87 days Submission to first decision
view all metrics

As part of Wiley’s Forward Series, this journal offers a streamlined, faster publication experience with a strong emphasis on integrity. Authors receive practical support to maximize the reach and discoverability of their work.

Articles

Case Report
Open access

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications

Ariel Tarrell, Jessika Weber, Reem Shawar, Luca Brunelli, Susan Morelli, Pinar Bayrak-Toydemir, Elizabeth Doughty, Gulsen Akay, Lorenzo D. Botto, Emily Flemming, N. Scott Reading, Catalina Jaramillo, 
  •  1 July 2025
Case Report
Open access

Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia

Matthew R. Gregory, Khurram Liaqat, Kayla Treat, Kathryn M. Haider, Francesco Vetrini, Erin Conboy, 
  •  27 May 2025
Case Report
Open access

A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report

Randah Abdullah Dahlan, Roaa Hani Fairoozy, 
  •  28 April 2025
Case Report
Open access

Dual Diagnosis of Fragile X Syndrome and DEPDC5‐Related Disorder Emphasizes DEPDC5’s Role Beyond Familial Epilepsy: A Case Report and Literature Review

Rory Edwards, Grace Murphy, Joshua W. Owens, Craig Erickson, Robert Hopkin, Amelle Shillington, 
  •  2 April 2025
Case Report
Open access

Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants

Emily S. Levine, Nidhi D. Shah, Erin M. Salcone, 
  •  11 March 2025
More articles

The following is a list of the most cited articles based on citations published in the last three years, according to CrossRef.

Open access

Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome

Tri Indah Winarni, Andrea Schneider, Mariya Borodyanskara, Randi J. Hagerman, 
  •  26 March 2012
Open access

Increasing Evidence for the Association of Breast Implant‐Associated Anaplastic Large Cell Lymphoma and Li Fraumeni Syndrome

Julian Adlard, Cathy Burton, Philip Turton, 
  •  16 July 2019
Open access

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

Gustav Askaner, Ulrikke Lei, Birgitte Bertelsen, Alessandro Venzo, Karin Wadt, 
  •  28 July 2019
Open access

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

Jennifer L. Roberts, Stephanie K. Gandomi, Melissa Parra, Ira Lu, Chia-Ling Gau, Majed Dasouki, Merlin G. Butler, 
  •  2 June 2014
Open access

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

Carlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, Jair Tenorio, Fernando Santos-Simarro, Sixto García-Miñaur, Pablo Lapunzina, Leopoldo Martínez-Martínez, 
  •  19 January 2017
More articles

Explore issue archive