Concepedia

Ece Sönmezler

ES

Statistics

Publications

9

Citations

158

H-Index

9

Active since

2019

Affiliations

Children's Hospital of Eastern Ontario(Current)

University of Cambridge

Dokuz Eylül University

University of Ottawa

Ottawa Hospital

Ece Sönmezler is an author at Children's Hospital of Eastern Ontario specializing in genetics, neurogenetic disorders, and human genetics.

ORCID

Publications per year

2019–2024

9

Publications

9

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Semra Hız Kurul, Yavuz Oktay, Ana Töpf et al. · Brain · 2021 · 34 citations · Full text

, , +13

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

Yavuz Oktay, Serdal Güngör, Lena Zeltner et al. · Journal of Neuromuscular Diseases · 2020 · 19 citations · Full text

, , +17

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family

Uluç Yiş, Sezgin Güneş, Figen Baydan et al. · Journal of Neuromuscular Diseases · 2019 · 18 citations · Full text

, , +15

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG

Cem Paketçi, Pınar Edem, Ece Sönmezler et al. · Brain and Development · 2020 · 16 citations · Full text

, , +10

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

Serdal Güngör, Yavuz Oktay, Álvaro Aranguren‐Ibáñez et al. · iScience · 2020 · 16 citations · Full text

, , +17

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