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Saquib Lakhani

Associate Professor, Pediatric Critical Care

Yale University School of Medicine

United States

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Research Interests

Neurology

30%

Biostatistics

20%

Medical Science

50%

Rare Disease

40%

Prenatal Diagnosis

20%

Neurodevelopmental Disorders

20%

Ataxia

10%

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Articles6

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants

Article Link

Year:

2023

Functional testing for variant prioritization in a family with long QT syndrome

Article Link

Year:

2021

Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome

Article Link

Year:

2020

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence

Article Link

Year:

2020

DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants

Article Link

Year:

2020

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

Article Link

Year:

2020

Collaborators2

Thomas V. McDonald

UNITED STATES

Carrie L. Lucas

Yale University School of Medicine

UNITED STATES

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