Albert Schinzel

Hudson Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

74h-index23.1kcitations1.7kworks0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(174), Prenatal Screening and Diagnostics(138), Genetic Syndromes and Imprinting(65), Chromosomal and Genetic Variations(53), Genetics and Neurodevelopmental Disorders(33)

Publications857 total

Table of Contents, Volume 190, Number 4, December 2022
American Journal of Medical Genetics Part C Seminars in Medical Genetics·2022Open Access
Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia
Journal of Assisted Reproduction and Genetics·2022· 6 citedOpen Access
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
2022· 10 citedOpen Access
Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications
Genes·2021Open Access
Network‐based analysis using chromosomal microdeletion syndromes as a model
American Journal of Medical Genetics Part C Seminars in Medical Genetics·2021· 3 cited
Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements
University of Southern Denmark Research Portal (University of Southern Denmark)·2019Open Access
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Human Mutation·2018· 41 citedOpen Access
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
European Journal of Human Genetics·2018· 35 citedOpen Access
NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
UNESP Institutional Repository (São Paulo State University)·2017Open Access
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
PLoS Genetics·2017· 69 citedOpen Access
Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders
Molecular Syndromology·2017· 8 citedOpen Access
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease
The American Journal of Human Genetics·2016· 71 citedOpen Access
Jeune Syndrome
2015
Genetics and Genomics in Medicine
European Journal of Human Genetics·2015· 13 citedOpen Access
Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype
Molecular Cytogenetics·2014· 6 citedOpen Access
An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies
European Journal of Human Genetics·2014· 62 citedOpen Access
Molekularna karakterizacija prstenastog kromosoma 9 primjenom tehnike komparativne genomske hibridizacije na mikropostroju
2014
Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications
American Journal of Medical Genetics Part A·2013· 55 citedOpen Access
An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
European Journal of Medical Genetics·2013· 42 cited
Novel <i>KIF7</i> mutations extend the phenotypic spectrum of acrocallosal syndrome
Journal of Medical Genetics·2012· 41 cited
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Frequent Co-authors

Wendy P. Robinson(11), Hugo Ten Cate(8), Deborah Bartholdi(6), Alessandra Baumer(6), Mariluce Riegel(6), Franz Binkert(6), Fosco Bernasconi(5), Orsetta Zuffardi(3), Armand Bottani(3), Stylianos E. Antonarakis(3), David Fitzpatrick(3), Charles A. Williams(2), Jill Clayton‐Smith(2), Joan H.M. Knoll(2), R. Ellen Magenis(2), Joseph Wagstaff(2), William Reardon(2), Michael J. Bamshad(2), Robert C. Lin(2), W. Scott Watkins(2)