Concepedia

Mark Mallozzi

MM

3

Publications

222

Citations

3

H-Index

2011

Active since

Affiliations

Children's Hospital of Philadelphia(Current)

University of Lübeck

University of Pennsylvania

Amsterdam UMC Location University of Amsterdam

Gdańsk Medical University

Mark Mallozzi is an author at Children's Hospital of Philadelphia specializing in genetics, molecular genetics, and medicine.

Top concepts

GeneticsMedicineMolecular GeneticsPathologyPublic HealthClinical GeneticsMonogenic DisordersGenetic EpidemiologyDevelopmental BiologyMolecular Diagnostics

Publications per year

2011–2021

3

Publications

3

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27

<i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond

Ilaria Parenti, Mark Mallozzi, Irina Hüning et al. · Clinical Genetics · 2021 · 42 citations · Full text

Genetics, Genetic Epidemiology, Pathology +16

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Diana Braunholz, Melanie Hullings, María Concepción Gil‐Rodríguez et al. · European Journal of Human Genetics · 2011 · 34 citations · Full text

Genome Instability, Mendelian Disorder, Genetic Disorder +8

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