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Pedro A Sanchez-Lara

Professor/Director of Integration & Innovation

Children's Hospital of Philadelphia

United States

Research Interests

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Articles (20)

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Collaborators (8)

Anne Comi

Director, Hunter Nelson Sturge-Weber Center

Kennedy Krieger Institute

UNITED STATES

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Michelle Allen-Sharpley

Assistant Professor

Cedars-Sinai Medical Center

UNITED STATES

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Terence Beghyn

Professor Assistant

Université de Lille

FRANCE

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Christopher T. Gordon

INSERM

FRANCE

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Ivan Ivanovski

Wissenschaftliche Mitarbeiter

University of Zurich

SWITZERLAND

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Karen Low

University of Bristol

UNITED KINGDOM

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Andrew Wilkie

University of Oxford

UNITED KINGDOM

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Lindsay C. Burrage

Associate Professor (with Tenure)

Baylor College of Medicine

UNITED STATES

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Pedro A Sanchez-Lara

Research Interests

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Articles (20)

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.

1058: RFC4 DEFICIENCY: JOURNEY OF UNCERTAINTY TO DIAGNOSIS AND EARLY COMPASSIONATE CARE

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report.

Congenital Anomalies of the Skull

Updates in Trisomy 18.

A Novel KDF1 Variant is Associated With Multiple Natal Teeth, Tooth Agenesis, and Root Maldevelopment.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

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

Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome.

Abdominal Pregnancy (Extrauterine Pregnancy)

Anterior Fontanel Bone

Aplasia Cutis Congenita

Brachial Plexus Palsy

Breech Presentation Deformation

Calcaneovalgus Feet

Cephalohematoma

Clinical Approach to Deformation Problems

Congenital Muscular Torticollis

Collaborators (8)

Anne Comi

Michelle Allen-Sharpley

Terence Beghyn

Christopher T. Gordon

Ivan Ivanovski

Karen Low

Andrew Wilkie

Lindsay C. Burrage

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