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Laura Pace

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Clinical Assistant Professor

Stanford University

United States

Research Interests

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Recent Grants

Grant: Close

Utah Building Interdisciplinary Research Careers in Women's Health Career Development Program

Open Date: 2015-09-30

Close Date: 2020-07-31

Grant: Close

Gastroenterology Training Grant

Open Date: 1976-07-01

Close Date: 2017-06-30

Articles (20)

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Collaborators (24)

Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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Irman Forghani

UNITED STATES

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Edward Tobias

University of Glasgow

UNITED KINGDOM

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Niwen Kong

Stanford University

UNITED STATES

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Mario Saporta

ASSOCIATE PROFESSOR

University of Miami School of Medicine

UNITED STATES

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Nayana Lahiri

Honorary senior lecturer

St George’s, University of London

UNITED KINGDOM

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Yigit Karasozen

Assistant Professor

University of California, Los Angeles

UNITED STATES

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Sally Ann Lynch

IRELAND

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serenella venanzi

Istituto Superiore di Sanità

ITALY

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KATHERINE LACHLAN

Honorary Senior Clinical Lecturer

University of Southampton

UNITED KINGDOM

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Matias Wagner

Technical University of Munich

GERMANY

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James Hemp

California Institute of Technology

UNITED STATES

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Astrid Brull

Senior Scientist

St. Jude Children's Research Hospital

UNITED STATES

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Ranjani Murali

Assistant Professor

University of Nevada

UNITED STATES

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Guney Bademci

Assistant Professor

University of Miami School of Medicine

UNITED STATES

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Matthew Moulton

Assistant Professor

Texas A&M University

UNITED STATES

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Mustafa Tekin

University of Miami

UNITED STATES

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Yuk Yee Leung

Research Assistant Professor

University of Pennsylvania

UNITED STATES

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Scott Ward

Assistant Professor of Clinical Pediatrics (Medical Genetics)

Vanderbilt University Medical Center

UNITED STATES

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Dimitris Polychronopoulos

Chief Data Officer and co-founder

CureCollect

UNITED KINGDOM

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Ingo Helbig

Children's Hospital of Philadelphia

UNITED STATES

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Stefano Gustincich

Principal Investigator - Tenured

Istituto Italiano di Tecnologia

ITALY

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Rossana Sanchez Russo

Associate Professor of Human Genetics

Emory University

UNITED STATES

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Laura Pace

Research Interests

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Recent Grants

Articles (20)

The Neuroimmune Axis in Gastrointestinal Disorders - An Underrecognized Problem.

Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Diversity and evolution of nitric oxide reduction in bacteria and archaea

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

De novo variants in DENND5B cause a neurodevelopmental disorder

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for non-accepted ones.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

Collaborators (24)

Meena Balasubramanian

Irman Forghani

Edward Tobias

Niwen Kong

Mario Saporta

Nayana Lahiri

Yigit Karasozen

Sally Ann Lynch

serenella venanzi

KATHERINE LACHLAN

Matias Wagner

James Hemp

Astrid Brull

Ranjani Murali

Guney Bademci

Siddharth Banka

Matthew Moulton

Mustafa Tekin

Yuk Yee Leung

Scott Ward

Dimitris Polychronopoulos

Ingo Helbig

Stefano Gustincich

Rossana Sanchez Russo

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