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Katheryn Lynn Grand

13PUBLICATIONS

93CO-AUTHORS

Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Cancer geneticsEducational technology and computing

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Publications (13)

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|Feb 28, 2025

Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity Assay.

Silvestre Cuinat, Paul Rollier, Katheryn Grand

|Jan 02, 2024

Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder.

Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize

|May 29, 2021

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.

Zhiyu Qian, Katheryn Grand, Andrew Freedman

|May 13, 2021

Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.

Dong Li, Qin Wang, Naihua N Gong

|May 07, 2021

Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome.

Bahareh M Schweiger, Chaya L Esakhan, David Frishberg

|Apr 29, 2021

Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.

Pedro A Sanchez-Lara, Katheryn Grand, Maria K Haanpää

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Frequent Collaborators

4 joint publications

Elizabeth Joyce Bhoj

3 joint publications

Pedro A Sanchez-Lara

2 joint publications

Jennifer M Kalish

2 joint publications

Leslie Castelo-Soccio

2 joint publications

Sarah E Sheppard

1 joint publications

Odile Boespflug-Tanguy

1 joint publications

Chaya Murali

1 joint publications

Deema Aljeaid

1 joint publications

Emma Bedoukian

1 joint publications

Jullianne Diaz

Frequent Collaborators

4 joint publications

Elizabeth Joyce Bhoj

3 joint publications

Pedro A Sanchez-Lara

2 joint publications

Jennifer M Kalish

2 joint publications

Leslie Castelo-Soccio

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