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1.

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.

Kimonis, Virginia; Al Dubaisi, Rehab; Maclean, Andrew E; Hall, Kathy; Weiss, Lan; Stover, Alexander E; Schwartz, Philip H; Berg, Bethany; Cheng, Cheng; Parikh, Sumit; Conner, Blair R; Wu, Sitao; Hasso, Anton N; Scott, Daryl A; Koenig, Mary Kay; Karam, Rachid; Tang, Sha; Smith, Moyra; Chao, Elizabeth; Balk, Janneke; Hatchwell, Eli; Eis, Peggy S.

J Med Genet ; 58(5): 314-325, 2021 05.

Article in English | MEDLINE | ID: mdl-32518176

2.

Ethnic disparities in the frequency of cancer reported in family histories.

Maves, Heather; Flodman, Pamela; Nathan, Deepika; Smith, Moyra.

J Genet Couns ; 29(3): 451-459, 2020 06.

Article in English | MEDLINE | ID: mdl-32222057

3.

Mitochondrial and ion channel gene alterations in autism.

Smith, Moyra; Flodman, Pamela L; Gargus, John J; Simon, Mariella T; Verrell, Kimberley; Haas, Richard; Reiner, Gail E; Naviaux, Robert; Osann, Katherine; Spence, M Anne; Wallace, Douglas C.

Biochim Biophys Acta ; 1817(10): 1796-802, 2012 Oct.

Article in English | MEDLINE | ID: mdl-22538295

4.

MRNA Transcription, Translation, and Defects in Developmental Cognitive and Behavioral Disorders.

Smith, Moyra.

Front Mol Biosci ; 7: 577710, 2020.

Article in English | MEDLINE | ID: mdl-33102526

5.

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.

Ham, Michelle; Han, Julia; Osann, Kathryn; Smith, Moyra; Kimonis, Virginia.

Mitochondrion ; 46: 262-269, 2019 05.

Article in English | MEDLINE | ID: mdl-30165240

6.

Expanded Insights Into Mechanisms of Gene Expression and Disease Related Disruptions.

Smith, Moyra; Flodman, Pamela L.

Front Mol Biosci ; 5: 101, 2018.

Article in English | MEDLINE | ID: mdl-30542652

7.

DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.

Smith, Moyra.

Front Mol Biosci ; 4: 24, 2017.

Article in English | MEDLINE | ID: mdl-28516087

8.

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.

Ramanathan, Subhadra; Woodroffe, Abigail; Flodman, Pamela L; Mays, Lee Z; Hanouni, Mona; Modahl, Charlotte B; Steinberg-Epstein, Robin; Bocian, Maureen E; Spence, M Anne; Smith, Moyra.

BMC Med Genet ; 5: 10, 2004 Apr 16.

Article in English | MEDLINE | ID: mdl-15090072

9.

No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network.

Devlin, Bernie; Bennett, Pamela; Cook, Edwin H; Dawson, Geraldine; Gonen, David; Grigorenko, Elena L; McMahon, William; Pauls, David; Smith, Moyra; Spence, M Anne; Schellenberg, Gerard D.

Am J Med Genet ; 114(6): 667-72, 2002 Aug 08.

Article in English | MEDLINE | ID: mdl-12210285

10.

The year in human and medical genetics. Highlights of 2007-2008.

Smith, Moyra.

Ann N Y Acad Sci ; 1151: 1-21, 2009 Jan.

Article in English | MEDLINE | ID: mdl-19154514

11.

Nuclear and mitochondrial genome defects in autisms.

Smith, Moyra; Spence, M Anne; Flodman, Pamela.

Ann N Y Acad Sci ; 1151: 102-32, 2009 Jan.

Article in English | MEDLINE | ID: mdl-19154520

12.

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.

Wassink, Thomas H; Piven, Joseph; Vieland, Veronica J; Jenkins, Laura; Frantz, Rebecca; Bartlett, Christopher W; Goedken, Rhinda; Childress, Deb; Spence, M Anne; Smith, Moyra; Sheffield, Val C.

Am J Med Genet B Neuropsychiatr Genet ; 136B(1): 36-44, 2005 Jul 05.

Article in English | MEDLINE | ID: mdl-15892143

13.

Preface. The year in human and medical genetics.

Smith, Moyra.

Ann N Y Acad Sci ; 1151: ix-x, 2009 Jan.

Article in English | MEDLINE | ID: mdl-19154513

14.

Presence of large deletions in kindreds with autism.

Yu, Chang-En; Dawson, Geraldine; Munson, Jeffrey; D'Souza, Ian; Osterling, Julie; Estes, Annette; Leutenegger, Anne-Louise; Flodman, Pamela; Smith, Moyra; Raskind, Wendy H; Spence, M Anne; McMahon, William; Wijsman, Ellen M; Schellenberg, Gerard D.

Am J Hum Genet ; 71(1): 100-15, 2002 Jul.

Article in English | MEDLINE | ID: mdl-12058345

15.

Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network.

Devlin, Bernie; Bennett, Pamela; Dawson, Geraldine; Figlewicz, Denise A; Grigorenko, Elena L; McMahon, William; Minshew, Nancy; Pauls, David; Smith, Moyra; Spence, M Anne; Rodier, Patricia M; Stodgell, Chris; Schellenberg, Gerard D.

Am J Med Genet B Neuropsychiatr Genet ; 126B(1): 46-50, 2004 Apr 01.

Article in English | MEDLINE | ID: mdl-15048647

16.

Mitochondrial dysfunction in autistic patients with 15q inverted duplication.

Filipek, Pauline A; Juranek, Jenifer; Smith, Moyra; Mays, Lee Z; Ramos, Erica R; Bocian, Maureen; Masser-Frye, Diane; Laulhere, Tracy M; Modahl, Charlotte; Spence, M Anne; Gargus, J Jay.

Ann Neurol ; 53(6): 801-4, 2003 Jun.

Article in English | MEDLINE | ID: mdl-12783428

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NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.

Ethnic disparities in the frequency of cancer reported in family histories.

Mitochondrial and ion channel gene alterations in autism.

MRNA Transcription, Translation, and Defects in Developmental Cognitive and Behavioral Disorders.

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.

Expanded Insights Into Mechanisms of Gene Expression and Disease Related Disruptions.

DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.

No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network.

The year in human and medical genetics. Highlights of 2007-2008.

Nuclear and mitochondrial genome defects in autisms.

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.

Preface. The year in human and medical genetics.

Presence of large deletions in kindreds with autism.

Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network.

Mitochondrial dysfunction in autistic patients with 15q inverted duplication.