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Kristin Barañano | Researchclopedia

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Kristin Barañano

65

Works

1,682

Citations

19

h-index

30

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities RNA regulation and disease

Affiliations

Kennedy Krieger Institute2011–2024

Johns Hopkins University2010–2024

Johns Hopkins Medicine2014–2024

Moser (Czechia)2014–2014

Johns Hopkins Hospital2018–2024

Top Works

Clinical whole exome sequencing in child neurology practice

Siddharth Srivastava,Julie S. Cohen,et al.

2014286 citations

Epigenetics and DNA Methylation

Genomics and Rare Diseases

The ketogenic diet: Uses in epilepsy and other neurologic illnesses

Kristin Barañano,Adam L. Hartman

2008241 citations

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M. Jenkinson,Mathieu P. Rodero,et al.

2016146 citations

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto,Iva A. Tchasovnikarova,et al.

2020108 citations

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Brieana Fregeau,Bum‐Joon Kim,et al.

201692 citations

A genome-wide DNA methylation signature for SETD1B-related syndrome

I. Krzyzewska,Saskia M. Maas,et al.

201965 citations

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Geeske M. van Woerden,Melanie Bos,et al.

202163 citations

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole,Stéphanie Efthymiou,et al.

202062 citations

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Laure Asselin,José Rivera Alvarez,et al.

202052 citations