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Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63817
By:
- Nomakuchi, Tomoki T.;
- Teferedegn, Eden Y.;
- Li, Dong;
- Muirhead, Kayla J.;
- Dubbs, Holly;
- Leonard, Jacqueline;
- Muraresku, Colleen;
- Sergio, Emily;
- Arnold, Kaley;
- Pizzino, Amy;
- Skraban, Cara M.;
- Zackai, Elaine H.;
- Wang, Kai;
- Ganetzky, Rebecca D.;
- Vanderver, Adeline L.;
- Ahrens‐Nicklas, Rebecca C.;
- Bhoj, Elizabeth J. K.
Publication type:
Article
Pathogenic variants in CASK: Expanding the genotype–phenotype correlations.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2617, doi. 10.1002/ajmg.a.62863
By:
- Dubbs, Holly;
- Ortiz‐Gonzalez, Xilma;
- Marsh, Eric D.
Publication type:
Article
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2374, doi. 10.1002/ajmg.a.62251
By:
- Li, Mindy;
- Glass, Jennifer;
- Du, Xiaoli;
- Dubbs, Holly;
- Harr, Margaret Horton;
- Falk, Marni;
- Smolarek, Teresa;
- Hopkin, Robert J.;
- Zackai, Elaine;
- Sheppard, Sarah E.
Publication type:
Article
Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1700, doi. 10.1002/ajmg.a.62156
By:
- Cuddapah, Vishnu Anand;
- Dubbs, Holly A.;
- Adang, Laura;
- Kugler, Steven L.;
- McCormick, Elizabeth M.;
- Zolkipli‐Cunningham, Zarazuela;
- Ortiz‐González, Xilma R.;
- McCormack, Shana;
- Zackai, Elaine;
- Licht, Daniel J.;
- Falk, Marni J.;
- Marsh, Eric D.
Publication type:
Article
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2101, doi. 10.1002/ajmg.a.38277
By:
- Luo, Minjie;
- Fan, Jinbo;
- Wenger, Tara L.;
- Harr, Margaret H.;
- Racobaldo, Melissa;
- Mulchandani, Surabhi;
- Dubbs, Holly;
- Zackai, Elaine H.;
- Spinner, Nancy B.;
- Conlin, Laura K.
Publication type:
Article
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 762, doi. 10.1002/ajmg.a.38080
By:
- Keen, Colleen;
- Samango‐Sprouse, Carole;
- Dubbs, Holly;
- Zackai, Elaine H.
Publication type:
Article
Detection of Mutually Exclusive Mosaicism in a Girl with Genotype-Phenotype Discrepancies.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3091, doi. 10.1002/ajmg.a.37261
By:
- Luo, Minjie;
- Mulchandani, Surabhi;
- Dubbs, Holly A.;
- Swarr, Daniel;
- Pyle, Louise;
- Zackai, Elaine H.;
- Spinner, Nancy B.;
- Conlin, Laura K.
Publication type:
Article
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2548, doi. 10.1002/ajmg.a.37221
By:
- Nesbitt, Addie;
- Bhoj, Elizabeth J.;
- McDonald Gibson, Kristin;
- Yu, Zhenming;
- Denenberg, Elizabeth;
- Sarmady, Mahdi;
- Tischler, Tanya;
- Cao, Kajia;
- Dubbs, Holly;
- Zackai, Elaine H.;
- Santani, Avni
Publication type:
Article
Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2396, doi. 10.1002/ajmg.a.36043
By:
- Bhoj, Elizabeth;
- Dubbs, Holly;
- McDonald ‐ McGinn, Donna;
- Zackai, Elaine
Publication type:
Article
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1929, doi. 10.1002/ajmg.a.36045
By:
- Kalish, JENnifer M.;
- Conlin, Laura K.;
- Bhatti, Tricia R.;
- Dubbs, Holly A.;
- Harris, Mary Catherine;
- Izumi, Kosuke;
- Mostoufi ‐ Moab, Sogol;
- Mulchandani, Surabhi;
- Saitta, Sulagna;
- States, Lisa J.;
- Swarr, Daniel T.;
- WilkENs, Alisha B.;
- Zackai, Elaine H.;
- Zelley, Kristin;
- Bartolomei, Marisa S.;
- Nichols, Kim E.;
- Palladino, Andrew A.;
- Spinner, Nancy B.;
- Deardorff, Matthew A.
Publication type:
Article
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
Published in:
JAMA Neurology, 2017, v. 74, n. 10, p. 1228, doi. 10.1001/jamaneurol.2017.1714
By:
- de Kovel, Carolien G. F.;
- Syrbe, Steffen;
- Brilstra, Eva H.;
- Verbeek, Nienke;
- Kerr, Bronwyn;
- Dubbs, Holly;
- Bayat, Allan;
- Desai, Sonal;
- Naidu, Sakkubai;
- Srivastava,, Siddharth;
- Cagaylan, Hande;
- Uluc Yis;
- Saunders, Carol;
- Rook, Martin;
- Plugge, Susanna;
- Muhle, Hiltrud;
- Afawi, Zaid;
- Klein, Karl-Martin;
- Jayaraman, Vijayakumar;
- Rajagopalan, Ramakrishnan
Publication type:
Article
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Published in:
JAMA Network Open, 2019, p. e192129, doi. 10.1001/jamanetworkopen.2019.2129
By:
- Balciuniene, Jorune;
- DeChene, Elizabeth T.;
- Akgumus, Gozde;
- Romasko, Edward J.;
- Cao, Kajia;
- Dubbs, Holly A.;
- Mulchandani, Surabhi;
- Spinner, Nancy B.;
- Conlin, Laura K.;
- Marsh, Eric D.;
- Goldberg, Ethan;
- Helbig, Ingo;
- Sarmady, Mahdi;
- Abou Tayoun, Ahmad
Publication type:
Article
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.
Published in:
Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 599, doi. 10.1002/mgg3.236
By:
- Tian, Guoling;
- Cristancho, Ana G.;
- Dubbs, Holly A.;
- Liu, Grant T.;
- Cowan, Nicholas J.;
- Goldberg, Ethan M.
Publication type:
Article
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888
By:
- Kaiser, Frank J.;
- Ansari, Morad;
- Braunholz, Diana;
- Concepción Gil-Rodríguez, María;
- Decroos, Christophe;
- Wilde, Jonathan J.;
- Fincher, Christopher T.;
- Kaur, Maninder;
- Bando, Masashige;
- Amor, David J.;
- Atwal, Paldeep S.;
- Bahlo, Melanie;
- Bowman, Christine M.;
- Bradley, Jacquelyn J.;
- Brunner, Han G.;
- Clark, Dinah;
- Del Campo, Miguel;
- Di Donato, Nataliya;
- Diakumis, Peter;
- Dubbs, Holly
Publication type:
Article
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006143
By:
- Muirhead, Kayla J.;
- Clause, Amanda R.;
- Schlachetzki, Zinayida;
- Dubbs, Holly;
- Perry, Denise L.;
- Hagelstrom, R. Tanner;
- Taft, Ryan J.;
- Vanderver, Adeline
Publication type:
Article
Expanding Genetic Counselor Roles: A Model for Global Research Development.
Published in:
Genes, 2024, v. 15, n. 7, p. 867, doi. 10.3390/genes15070867
By:
- Muraresku, Colleen C.;
- McCormick, Elizabeth M.;
- Rockart, Lydia;
- Blaine Crowley, T.;
- Asher, Stephanie;
- Back, Amanda;
- Baldino, Sarah M.;
- Bedoukian, Emma;
- Britt, Allison D.;
- Burrill, Natalie;
- Cacioppo, Cara;
- Clark, Dana Farengo;
- Clark, Mary Egan;
- Conway, Laura;
- Dratch, Laynie;
- Dubbs, Holly A.;
- Engelhardt, Nicole M.;
- Ginn, Natalie;
- Gray, Christopher;
- Hartman, Tiff
Publication type:
Article
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Published in:
Neurogenetics, 2019, v. 20, n. 3, p. 129, doi. 10.1007/s10048-019-00578-1
By:
- Beck, David B.;
- Subramanian, T.;
- Vijayalingam, S.;
- Ezekiel, Uthayashankar R.;
- Donkervoort, Sandra;
- Yang, Michele L.;
- Dubbs, Holly A.;
- Ortiz-Gonzalez, Xilma R.;
- Lakhani, Shenela;
- Segal, Devorah;
- Au, Margaret;
- Graham, John M.;
- Verma, Sumit;
- Waggoner, Darrel;
- Shinawi, Marwan;
- Bönnemann, Carsten G.;
- Chung, Wendy K.;
- Chinnadurai, G.
Publication type:
Article

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