Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Response to Leidi et al

Adeline Vanderver¹, Ralf A Husain²

¹Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|February 18, 2022

Summary

No abstract available in PubMed .

Related Experiment Videos

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.

medRxiv : the preprint server for health sciences·2026

Same author

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Molecular genetics and metabolism·2026

Same author

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Nature genetics·2026

Same author

Adult-onset STING-associated vasculopathy.

Journal of human immunity·2026

Same author

Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy.

Developmental medicine and child neurology·2026

Same author

Rigorous genetic diagnosis review in natural history studies.

Orphanet journal of rare diseases·2026

Same journal

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same journal

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same journal

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same journal

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same journal

Beyond Mistrust: Diverse Biobanking Preferences Among Parents and Adolescents with Sickle Cell Disease.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same journal

Correspondence on "Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms" by Pastor et al.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

See all related articles