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Yigit Karasozen

Assistant Professor

University of California, Los Angeles

United States

Research Interests

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Professors in United States Professors in Biochemistry Biochemistry professors in United States

Articles (19)

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Collaborators (27)

Maria T Acosta

Staff Clinician - Principal Investigator

National Human Genome Research Institute

UNITED STATES

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Michael Levitt

Professor

University of Washington

UNITED STATES

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Luis Gonzalez-Cuyar

Associate Professor

University of Washington

UNITED STATES

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Dirk Strunk

Head

Paracelsus Medical University

AUSTRIA

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Meghan Halley

Assistant Professor

Medical College of Wisconsin

UNITED STATES

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Queenie K.-G Tan

Mayo Clinic

UNITED STATES

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Enrico Drago

University of Genova

ITALY

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Anu Goenka

Academic , Consultant Senior Lecturer in Paediatric Immunology and Infectious Diseases

University of Bristol

UNITED KINGDOM

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Isabelle Schrauwen

Columbia University

UNITED STATES

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Mohamad Mikati

Duke University

UNITED STATES

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Julian Martinez-Agosto

Associate Professor (with tenure)

David Geffen School of Medicine at UCLA

UNITED STATES

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Joshua Osbun

Washington University School of Medicine

UNITED STATES

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Nicholas Borja

Assistant Professor of Clinical Genetics

University of Miami Miller School of Medicine

UNITED STATES

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Devin Oglesbee

Mayo Clinic

UNITED STATES

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Matthew Wheeler

Associate Professor

Stanford University

UNITED STATES

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Guney Bademci

Assistant Professor

University of Miami School of Medicine

UNITED STATES

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Sen Zhao

Baylor College of Medicine

UNITED STATES

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Marcello Scala

Researcher

University of Genoa

ITALY

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Carolina Angélica Parada

Assistant Professor

University of Washington

UNITED STATES

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Laura Pace

Clinical Assistant Professor

Stanford University

UNITED STATES

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Davor Lessel

Head

University of Regensburg

GERMANY

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Stanley Nelson

Professor

David Geffen School of Medicine at UCLA

UNITED STATES

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Elizabeth Blue

Professor

University of Washington

UNITED STATES

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Steffen Syrbe

Director ad Interim Clinic 5, Full Professor, Consultant Neuropediatrics and Pediatrics, Head of Division for Pediatric Epileptology

Heidelberg University

GERMANY

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Magdeldin Elgizouli

University of Zurich

SWITZERLAND

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Lindsay C. Burrage

Associate Professor (with Tenure)

Baylor College of Medicine

UNITED STATES

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Yigit Karasozen

Research Interests

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Articles (19)

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Defining an approach to empower clinical geneticists to do genomic reanalysis

Low‐Allele‐Frequency Somatic Variants in a Cohort of Sporadic Saccular “Berry” Cerebral Aneurysms

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics.

Clinical Reasoning: A 19-Year-Old Woman With Progressive Weakness and Numbness in Her Arms and Legs

Clinical validation of RNA sequencing for Mendelian disorder diagnostics

De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorder

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

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.

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

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

Collaborators (27)

Maria T Acosta

Michael Levitt

Luis Gonzalez-Cuyar

Dirk Strunk

Meghan Halley

Queenie K.-G Tan

Enrico Drago

Anu Goenka

Isabelle Schrauwen

Mohamad Mikati

Julian Martinez-Agosto

Joshua Osbun

Nicholas Borja

Devin Oglesbee

Matthew Wheeler

Guney Bademci

Sen Zhao

Marcello Scala

Carolina Angélica Parada

Siddharth Banka

Laura Pace

Davor Lessel

Stanley Nelson

Elizabeth Blue

Steffen Syrbe

Magdeldin Elgizouli

Lindsay C. Burrage

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