Case Reports in Genetics

Table of Contents

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2024
  • - Article ID 6319030
  • - Case Report

Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation

Afia Hasnain | Laura L. Thompson | ... | Bita Hashemi
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2024
  • - Article ID 8860889
  • - Case Report

Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome

Kyriaki Papadopoulou-Legbelou | Maria Ntoumpara | ... | Maria Fotoulaki
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2024
  • - Article ID 5906936
  • - Case Report

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder

Daniel Arbide | Nour Elkhateeb | ... | Soo-Mi Park
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 4553365
  • - Case Report

A Novel SPAST Variant Associated with Isolated Spastic Paraplegia

Helle Høyer | Ola Nakken | Trygve Holmøy
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 9127430
  • - Case Report

A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening

Melissa A. Hicks | Emilie Lalonde | ... | Salah Ebrahim
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 6722623
  • - Case Report

A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels

Kousar Jahan Syeeda Khursheed | Mohammed Rahman Kaleemullah | ... | Moiz Bakhiet
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 1692422
  • - Case Report

Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

Khaliunaa Bayanbold | Georgianne Younger | ... | Alpa Sidhu
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 7974886
  • - Case Report

A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia

Luna Bajracharya | Meena Lall | ... | Praveen Suman
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 6679572
  • - Case Report

Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome)

Alessia Mingarelli | Giovanni Battista Pipitone | ... | Federico Raviglione
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 4225092
  • - Case Report

An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome

Molly M. Crenshaw | Sharon L. Graw | ... | Peter Baker
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 6614837
  • - Case Report

Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America

Emilio Israel Wong-Valenzuela | Daniel San Juan | ... | Alejandro Lopez-Landa
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 9950421
  • - Case Report

Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran

Hossein Jalali | Mahan Mahdavi | ... | Mohammad Reza Mahdavi
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 5535083
  • - Case Report

Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus

Palanikumar Balasundaram | Indirapriya Darshini Avulakunta | ... | Katie R. Forman
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 3437706
  • - Case Report

A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant

Michael Gibbs | Alysa Poulin | ... | Bita Hashemi
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2023
  • - Article ID 9127512
  • - Case Report

45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome

Yu Han | Jiebin Wu | ... | Xuezhen Wang
Case Reports in Genetics
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