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Rebecca Buchert

Research Group Leader

Universitätsklinikum Tübingen

Germany

Research Interests

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Professors in Germany Professors in Biostatistics Biostatistics professors in Germany

Articles (14)

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2026

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2026

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2025

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2025

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2025

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2024

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2023

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2023

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2023

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2023

Collaborators (9)

Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

GERMANY

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Christiane Zweier

Head

Inselspital Universitätsspital Bern

SWITZERLAND

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Mariasavina Severino

IRCCS Istituto Giannina Gaslini

ITALY

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Thomas M. Durcan

McGill University

CANADA

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Asmat Ullah

Aarhus University

DENMARK

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Silke Kaulfuß

Head of NGS

University Medical Center Göttingen

GERMANY

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Marc Sturm

Head of Bioinformatics for Diagnostics

Universitätsklinikum Tübingen

GERMANY

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Sheng-Jia Lin

Assistant Professor

Utah Tech University

UNITED STATES

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Lucia Laugwitz

University of Tübingen

GERMANY

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Rebecca Buchert

Research Interests

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Articles (14)

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders

Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

A PAK1 mutational hotspot within the regulatory CRIPaK domain is associated with severe neurodevelopmental disorders in children

Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.

Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.

Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly

Sequence Variants in the <i>WNT10B</i> Underlying Non-Syndromic Split-Hand/Foot Malformation

Collaborators (9)

Ludger Schöls

Christiane Zweier

Mariasavina Severino

Thomas M. Durcan

Asmat Ullah

Silke Kaulfuß

Marc Sturm

Sheng-Jia Lin

Lucia Laugwitz

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