The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
2016 · Nature Genetics · 350 citations
https://doi.org/10.1038/ng.3720
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Carlo Marcelis
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Carlo Marcelis is an academic researcher from Allen Institute for Brain Science. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases. The author has an h-index of 52, co-authored 168 publications.
ORCID: 0000-0001-7095-4641Papers by this author
works<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures
2013 · New England Journal of Medicine · 199 citations
https://doi.org/10.1056/nejmoa1308223
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
2017 · The American Journal of Human Genetics · 164 citations
https://doi.org/10.1016/j.ajhg.2017.08.007
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
2018 · Genetics in Medicine · 132 citations
https://doi.org/10.1038/s41436-018-0330-z
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
2011 · Orphanet Journal of Rare Diseases · 105 citations
https://doi.org/10.1186/1750-1172-6-46
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
2010 · Pediatric Surgery International · 70 citations
https://doi.org/10.1007/s00383-010-2688-0
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