MaryKKukolichMD

PubMed

• Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
  Bassani, S., Chrast, J., Ambrosini, G., Voisin, N., Schütz, F., Brusco, A., Sirchia, F., Turban, L., Schubert, S., Jamra, R., Schlump, J., DeMille, D., Bayrak-Toydemir...> ;Medrxiv. 2024 Jan 17
• 2 citations
  Expanding the phenotypic spectrum of ARCN1-related syndrome.
  Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica We...> ;Genetics in Medicine. 2022 Jun 1
• 24 citations
  Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
  Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloes, Amelle Shillington, Kosuke Izumi, A...> ;Genetics in Medicine. 2020 May 19
• Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (Genetics in Medicine, (2019), 21, ...
  Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma, Mark E. Corkins, Yuxiao Xu, Jill A. Rosenfeld, Matthew N. Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Ma...> ;Genetics in Medicine. 2020 Apr 1
• 6 citations
  ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
  Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Eva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Pa...> ;American Journal of Human Genetics. 2020 Jan 2
• 7 citations
  DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
  Alexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, Mark E Corkins, Yuxiao Xu, Jill A Rosenfeld, Matthew N Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan-K...> ;Genetics in Medicine. 2019 Dec 1
• 24 citations
  Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
  Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Ka...> ;Annals of Clinical and Translational Neurology. 2019 Jul 1
• 8 citations
  ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
  Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Eva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Pa...> ;American Journal of Human Genetics. 2019 Feb 7
• 26 citations
  NBEA : Developmental disease gene with early generalized epilepsy phenotypes
  Maureen S. Mulhern, Constance T. R. M. Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie Lippa, James J. Riviello, Rob P.W. Rouhl, Marlies Kempers, Rolph P...> ;Annals of Neurology. 2018 Oct 25
• 46 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, Mary K. Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen L. Deak, ...> ;Human Molecular Genetics. 2018 Jul 15
• 83 citations
  The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
  Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine ...> ;Genetics in Medicine. 2017 Jan 1
• 85 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, Essie H. Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah L. Dugan, Sa...> ;European Journal of Human Genetics. 2016 May 1
• 41 citations
  Clinical delineation of the PACS1-related syndrome: report on 19 patients
  Janneke H M Schuurs-Hoeijmakers, Megan Landsverk, Nicola Foulds, Mary K. Kukolich, Ralitza H. Gavrilova, Stephanie Greville-Heygate, Andrea Hanson-Kahn, Jonathan A. Be...> ;American Journal of Medical Genetics. Part A. 2016 Mar 1
• 49 citations
  Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
  Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica E. Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionn...> ;American Journal of Human Genetics. 2015 Nov 5
• 70 citations
  Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
  Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester W. Brown, Pilar L. Magoulas, Anne Chun Hui Tsai, Areeg El-Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Ch...> ;American Journal of Human Genetics. 2014 Nov 6
• 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, Margaret P. Adam, Sjirk J. Westra, Heleen H. Arts> ;American Journal of Medical Genetics. Part A. 2013 Nov 1
• 40 citations
  Duplication of Chromosome Band 12q24.11q24.23 Results in Apparent Noonan Syndrome
  Oleg A. Shchelochkov, Ankita Patel, George Weissenberger, A. Craig Chinault, Joanna Wiszniewska, Priscilla H. Fernandes, Christine M. Eng, Mary K. Kukolich, V. Reid Su...> ;American Journal of Medical Genetics. Part A. 2008 Apr 15
• 34 citations
  Tetraploidy: A report of three live‐born infants
  P R Scarbrough, Joseph H. Hersh, Mary K. Kukolich, Andrew J. Carroll, Sara C. Finley, Richard Hochberger, Shirley A. Wilkerson, Frank Yen, Becky W. Althaus> ;American Journal of Medical Genetics. 1984 Sep 1
• 4 citations
  Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly
  Mark T. Jennings, Judith G. Hall, Mary Kukolich> ;American Journal of Medical Genetics. 1980 Jan 1
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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