MaryKKukolichMD

Clinical Genetics

Physician

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Office
750 8th Ave
Ste 200
Fort Worth, TX 76104
Phone+1 682-885-2170

Fax+1 817-335-8277

New York Presbyterian Hospital (Cornell Campus)Residency, Pediatrics, 1972 - 1974
Weill Cornell MedicineClass of 1972

PubMed

47 citations
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Ning Liu, Kelly Schoch, Xi Luo, Loren D M Pena, Venkata Hemanjani Bhavana
Human Molecular Genetics. 2018-07-15
90 citations
The Koolen-de Vries syndrome : A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
David A. Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E. Veenstra-Knol
European Journal of Human Genetics. 2016-05-01
47 citations
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
Angela E. Lin, Avram Z. Traum, Inderneel Sahai, Kim M. Keppler-Noreuil, Mary K. Kukolich
American Journal of Medical Genetics. Part A. 2013-11-01

Journal Articles

NBEA: Developmental Disease Gene with Early Generalized Epilepsy Phenotypes
Mary K Kukolich, Danielle McBrian, Heather C Mefford, Elaine Pereira, Tristan T Sands, James Riviello, Annals of Neurology