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Biology and Biochemistry

D-Index
57
Citations
9738
World Ranking
14020
National Ranking
256

Overview

Sheila Unger is affiliated with the University of Lausanne in Switzerland and has contributed extensively to the fields of biochemistry, genetics, and molecular biology, as well as medicine. Their research primarily focuses on genetics, with significant work in molecular biology, cancer research, oncology, and pathology and forensic medicine.

The scientist's main research topics include connective tissue disorders, genomics and rare diseases, BRCA gene mutations related to cancer, prenatal screening and diagnostics, genetic factors in colorectal cancer, cancer-related molecular mechanisms, and broader genomic variations and chromosomal abnormalities.

Sheila Unger's publication record features articles in several respected journals. Notable papers include:

  • Nosology of genetic skeletal disorders: 2023 revision (2023) in American Journal of Medical Genetics Part A
  • Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator (2021) in Nature
  • Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity (2022) in The American Journal of Human Genetics
  • Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis (2020) in Developmental Cell
  • BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs? (2024) in npj Breast Cancer

Frequent co-authors in their work include:

  • Andrea Superti-Furga
  • Belinda Campos-Xavier
  • Carlo Rivolta
  • Gen Nishimura
  • Mathieu Quinodoz

Sheila Unger has contributed to multiple papers published in a range of venues, with a concentration in:

  • American Journal of Medical Genetics Part A
  • Revue Médicale Suisse
  • The American Journal of Human Genetics
  • Swiss Medical Weekly
  • Genes

Best Publications

  • Nosology and classification of genetic skeletal disorders : 2010 revision

    Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow

  • Nosology and classification of genetic skeletal disorders: 2015 revision

    Luisa Bonafe;Valerie Cormier-Daire;Christine Hall;Ralph Lachman

  • Nosology and classification of genetic skeletal disorders: 2019 revision.

    Geert R Mortier;Daniel H Cohn;Valerie Cormier-Daire;Christine Hall

  • Nosology and classification of genetic skeletal disorders: 2006 revision.

    Andrea Superti-Furga;Sheila Unger

  • The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

    Toshiyuki Fukada;Natacha Civic;Tatsuya Furuichi;Shinji Shimoda

  • Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

    Carine Le Goff;Clémentine Mahaut;Lauren W Wang;Slimane Allali

  • Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

    Ekkehart Lausch;Andreas Janecke;Matthias Bros;Stefanie Trojandt

  • Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

    Nathalie Dagoneau;Deborah Scheffer;Céline Huber;Lihadh I. Al-Gazali

  • A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

    Louise S Bicknell;Claire Farrington-Rock;Yousef Shafeghati;Patrick Rump

  • Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.

    Sheila Unger;Jacqueline T. Hecht

  • NANS-mediated synthesis of sialic acid is required for brain and skeletal development

    Clara D M van Karnebeek;Luisa Bonafé;Xiao-Yan Wen;Xiao-Yan Wen;Maja Tarailo-Graovac

  • Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

    Masahiro Nakajima;Shuji Mizumoto;Noriko Miyake;Ryo Kogawa

  • Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

    Gail C. Jackson;Laureane Mittaz‐Crettol;Jacqueline A. Taylor;Geert R. Mortier

  • Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

    Pelin O Simsek Kiper;Pelin O Simsek Kiper;Hiroaki Saito;Francesca Gori;Sheila Unger

  • FAM111A mutations result in hypoparathyroidism and impaired skeletal development

    Sheila Unger;Maria W. Górna;Antony Le Béchec;Sonia Do Vale-Pereira

  • Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

    Ana Belinda Campos-Xavier;Danielle Martinet;John Bateman;Dan Belluoccio

  • Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

    Lisenka E.L.M. Vissers;Ekkehart Lausch;Sheila Unger;Ana Belinda Campos-Xavier

  • Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.

    Josephina A.N. Meester;Geert Vandeweyer;Isabel Pintelon;Martin Lammens

  • TRPV4‐associated skeletal dysplasias

    Gen Nishimura;Ekkehart Lausch;Ravi Savarirayan;Masahiro Shiba

  • Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

    Pia Hermanns;Sheila Unger;Antonio Rossi;Antonio Perez-Aytes

Frequent Co-Authors

Andrea Superti-Furga
Andrea Superti-Furga University of Lausanne
Bernhard Zabel
Bernhard Zabel University of Freiburg
Carlo Rivolta
Carlo Rivolta University of Basel
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Geert Mortier
Geert Mortier University of Antwerp
Daniel H. Cohn
Daniel H. Cohn University of California, Los Angeles
Gerd Scherer
Gerd Scherer University of Freiburg
Deborah Krakow
Deborah Krakow University of California, Los Angeles
David Chitayat
David Chitayat University of Toronto

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