Anne Slavotinek

6PUBLICATIONS
26CO-AUTHORS
Genome structure and regulationEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsPsychosocial aspects of childbirth and perinatal mental healthNeonatology
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Publications (6)

|Sep 16, 2026
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

|Nov 14, 2025
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.

Somin Jo, Christine Lee, Lori White

|Nov 14, 2025
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

Maria K Haanpää, Chad R Haldeman-Englert, Marja Hietala

|Nov 07, 2025
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.

Iftekhar A Showpnil, Neta Feinstein-Goren, Lior Greenbaum

|Sep 19, 2025
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.

Hannah R Chang, Megan Bannon, Chloe Opper

|Sep 11, 2025
Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results.

Kate Swanson, Ugur Hodoglugil, Teresa N Sparks

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Frequent Collaborators

1 joint publications

Kate Swanson

1 joint publications

Teresa N Sparks

1 joint publications

Eniolami Dosunmu

1 joint publications

Wallid Deb