Concepedia

Ewa Obersztyn

EO

Statistics

Publications

54

Citations

3.1K

H-Index

27

Active since

1995

Affiliations

Baylor College of Medicine(Current)

Medical University of Warsaw

Mother and Child Foundation

Polish Mother’s Memorial Hospital Research Institute

Children's Memorial Health Institute

Ewa Obersztyn is an author at Baylor College of Medicine specializing in life sciences, molecular genetics, and genetics.

ORCID

Publications per year

1995–2022

54

Publications

54

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 635 citations · Full text

, , +14

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 244 citations

, , +10

The mutational spectrum in Waardenburg syndrome

Mayada Tassabehji, Valerie Newton, X.-Z. Liu et al. · Human Molecular Genetics · 1995 · 223 citations

, , +17

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Claudia M.B. Carvalho, Feng Zhang, Pengfei Liu et al. · Human Molecular Genetics · 2009 · 197 citations · Full text

, , +17

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji, Hane Lee, Bob Argiropoulos et al. · European Journal of Human Genetics · 2015 · 155 citations

, , +11

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