Walter Just

Biochemistry, Genetics and Molecular Biology · Life Sciences

31h-index3.0kcitations85works2.02yr avg
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Research Topics

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities(25), Sexual Differentiation and Disorders(13), Head and Neck Anomalies(9), Chromosomal and Genetic Variations(8), Amyotrophic Lateral Sclerosis Research(7)

Publications85 total

Structural parameters are superior to eigenvector centrality in detecting progressive supranuclear palsy with machine learning & multimodal MRI
Heliyon·2024· 2 citedOpen Access
Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins
Stem Cell Reports·2020· 63 citedOpen Access
Breast cancer risk in <i>BRCA1/2</i> mutation carriers and noncarriers under prospective intensified surveillance
International Journal of Cancer·2019· 55 citedOpen Access
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Nature Communications·2019· 138 citedOpen Access
Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging
Cortex·2019· 20 citedOpen Access
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Breast Cancer Research·2018· 127 citedOpen Access
NGS-based multi-gene panel analysis in <i>BRCA1/2</i>-negative breast and ovarian cancer families.
Journal of Clinical Oncology·2017· 1 cited
Leitlinien zur molekulargenetischen Diagnostik: Fragiles-X Syndrom und andere FMR1-assoziierte Syndrome
Medizinische Genetik·2016Open Access
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3
Breast Cancer Research and Treatment·2016· 22 citedOpen Access
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients
PLoS ONE·2016· 25 citedOpen Access
Genomes of <i>Ellobius</i> species provide insight into the evolutionary dynamics of mammalian sex chromosomes
Genome Research·2016· 50 citedOpen Access
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients
Neurobiology of Aging·2015· 72 cited
Erratum
Sexual Development·2015
V42. De novo mutations in the FUS gene are a frequent cause of sporadic ALS in very young patients
Clinical Neurophysiology·2015· 2 cited
Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex development
Journal of Medical Genetics·2015· 108 cited
Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia
Sexual Development·2015Open Access
Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement
Clinical Dysmorphology·2014· 1 citedOpen Access
<i>C9ORF72</i>‐ALS: P62‐ and ubiquitin‐aggregation pathology in skeletal muscle
Muscle & Nerve·2014· 14 cited
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in <i>C9orf72</i> reveals marked differences in results among 14 laboratories
Journal of Medical Genetics·2014· 141 citedOpen Access
Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases
Neurobiology of Aging·2013· 66 cited
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Frequent Co-authors

Walther Vogel(24), H. Hameister(8), Claudia Geerkens(7), Annette Baumstark(6), I. Reisert(5), Ingo Kennerknecht(5), Alexander E. Volk(4), Christian Kubisch(4), Larry W. Fisher(4), U. Vetter(4), Marian F. Young(4), Christoph Engel(3), Norbert Arnold(3), Eric Hahnen(3), Doris Wöhrle(3), Nicolai Marroquin(3), Albert C. Ludolph(3), Irina Bakloushinskaya(3), Gotthold Barbi(3), W. Rau(2)