Maja Sukalo - Concepedia

Author

Maja Sukalo

University Hospital Magdeburg ORCID

Also Known As

M. Sukalo, Maja Sukalo, Sukalo Maja

Publications

481

Citations

H-Index

Concepts

All Affiliations

University Hospital Magdeburg Antwerp University Hospital Guy's Hospital University of Antwerp King's College London

About

Maja Sukalo is an author at University Hospital Magdeburg specializing in medicine, genetics, and pathogenesis.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	2	2	102
2	Genetics	2	2	102
3	Molecular Genetics	1	1	13
4	Pathology	1	1	13
5	Autoimmune Disease	1	1	13

Maja Sukalo

Publications

389

Citations

H-Index

Page 1

	Year	Citations
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos, Circulation Cardiovascular Genetics	2015	101
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome Josephina Meester, Laura Southgate, Anna-Barbara Stittrich, The American Journal of Human Genetics Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsPathogenesis	2015	89
Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, PLoS ONE	2011	56
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort Josephina Meester, Maja Sukalo, Kim Schroder, Human Mutation	2018	50
<i>DOCK6</i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies Maja Sukalo, Felix Tilsen, Hülya Kayserili, Human Mutation	2015	49
Adams–Oliver syndrome caused by mutations of the <i>EOGT</i> gene Kim Schroder, Duygu Duman, Mustafa Tekin, American Journal of Medical Genetics Part A	2019	21
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation Miray Karakoyun, Maja Sukalo, Martin Zenker, Gene Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsPathogenesis	2015	13
Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the<i><scp>UBR</scp>1</i>gene by multiplex ligation‐dependent probe amplification analysis Maja Sukalo, Eva Schäflein, Ina Schanze, Molecular Genetics & Genomic Medicine	2017	10

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