PMC Links for Books (Select 4322222) - PMC

Select item 82508701.

Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology

Bryan C. Mak, Rossana Sanchez Russo, Michael J. Gambello, Nicole Fleischer, Emily D. Black, Elizabeth Leslie, Melissa M. Murphy, The Emory 3q29 Project, Jennifer Gladys Mulle

Am J Med Genet A. 2021 Jul; 185(7): 2094–2101. Published online 2021 May 3. doi: 10.1002/ajmg.a.62227

PMCID:: PMC8250870

Abstract Article PDF–1.6M

Select item 81051702.

Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care

Rossana Sanchez Russo, Michael J. Gambello, Melissa M. Murphy, Katrina Aberizk, Emily Black, T. Lindsey Burrell, Grace Carlock, Joseph F. Cubells, Michael T. Epstein, Roberto Espana, Katrina Goines, Ryan M. Guest, Cheryl Klaiman, Sookyong Koh, Elizabeth J. Leslie, Longchuan Li, Derek M. Novacek, Celine A. Saulnier, Esra Sefik, Sarah Shultz, Elaine Walker, Stormi Pulver White, The Emory 3q29 Project, Jennifer Gladys Mulle

Genet Med. 2021; 23(5): 872–880. Published online 2021 Feb 9. doi: 10.1038/s41436-020-01053-1

PMCID:: PMC8105170

Abstract Article PDF–1.0M

Select item 77850853.

New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry

Rebecca M. Pollak, Michael C. Zinsmeister, Melissa M. Murphy, Michael E. Zwick, the Emory 3q29 Project, Jennifer G. Mulle

Am J Med Genet A. Author manuscript; available in PMC 2021 Jan 5.

Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1152–1166. Published online 2020 Mar 10. doi: 10.1002/ajmg.a.61540

PMCID:: PMC7785085

Abstract Article PDF–1.2M

Select item 71790074.

Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report

Melissa M. Murphy, T. Lindsey Burrell, Joseph F. Cubells, Michael T. Epstein, Roberto Espana, Michael J. Gambello, Katrina Goines, Cheryl Klaiman, Sookyong Koh, Rossana Sanchez Russo, Celine A. Saulnier, Elaine Walker, The Emory 3q29 Project, Jennifer Gladys Mulle

BMC Psychiatry. 2020; 20: 184. Published online 2020 Apr 22. doi: 10.1186/s12888-020-02598-w

PMCID:: PMC7179007

Abstract Article PDF–603K

Select item 67889625.

Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion

Timothy P. Rutkowski, Ryan H. Purcell, Rebecca M. Pollak, Stephanie M. Grewenow, Georgette M. Gafford, Tamika Malone, Uswa A. Khan, Jason P. Schroeder, Michael P. Epstein, Gary J. Bassell, Stephen T. Warren, David Weinshenker, Tamara Caspary, Jennifer Gladys Mulle

Mol Psychiatry. 2021; 26(3): 772–783. Published online 2019 Apr 11. doi: 10.1038/s41380-019-0413-5

PMCID:: PMC6788962

Abstract Article PDF–1.8M

Select item 66361286.

Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry

Rebecca M. Pollak, Melissa M. Murphy, Michael P. Epstein, Michael E. Zwick, Cheryl Klaiman, Celine A. Saulnier, the Emory 3q29 Project, Jennifer G. Mulle

Mol Autism. 2019; 10: 30. Published online 2019 Jul 16. doi: 10.1186/s13229-019-0281-5

PMCID:: PMC6636128

Abstract Article PDF–1.3M

Select item 51253897.

A clinical case report and literature review of the 3q29 microdeletion syndrome

Devin M. Cox, Merlin G. Butler

Clin Dysmorphol. Author manuscript; available in PMC 2016 Nov 28.

Published in final edited form as: Clin Dysmorphol. 2015 Jul; 24(3): 89–94. doi: 10.1097/MCD.0000000000000077

PMCID:: PMC5125389

Abstract Article PDF–1.0M

Select item 48491998.

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

Megan R. Glassford, Jill A. Rosenfeld, Alexa A. Freedman, Michael E. Zwick, Unique Rare Chromosome Disorder Support Group, Jennifer G. Mulle

Am J Med Genet A. 2016 Apr; 170(4): 999–1006. Published online 2016 Jan 6. doi: 10.1002/ajmg.a.37537

PMCID:: PMC4849199

Abstract Article PDF–573K

Select item 45465299.

The 3q29 deletion confers >40-fold increase in risk for schizophrenia

J G Mulle

Mol Psychiatry. 2015 Sep; 20(9): 1028–1029. Published online 2015 Jun 9. doi: 10.1038/mp.2015.76

PMCID:: PMC4546529

Article PDF–184K

Select item 368548110.

Co-occurrence of Autism, Childhood Psychosis, and Intellectual Disability associated with a de novo 3q29 Microdeletion

Angela Sagar, Jeffrey R. Bishop, D. Clare Tessman, Steve Guter, Christa L. Martin, Edwin H. Cook

Am J Med Genet A. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Am J Med Genet A. 2013 Apr; 161(4): 845–849. Published online 2013 Feb 26. doi: 10.1002/ajmg.a.35754

PMCID:: PMC3685481

Abstract Article PDF–132K

Select item 296437711.

A case of 3q29 microdeletion syndrome involving oral cleft inherited from a non-affected mosaic parent: molecular analysis and ethical implications

Aline L. Petrin, Sandra Daack-Hirsch, Jamie L’Heureux, Jeffrey C Murray

Cleft Palate Craniofac J. Author manuscript; available in PMC 2011 Mar 10.

Published in final edited form as: Cleft Palate Craniofac J. 2011 Mar; 48(2): 222–230. Published online 2010 May 4. doi: 10.1597/09-149

PMCID:: PMC2964377

Abstract Article PDF–1.0M

Select item 291770612.

Microdeletions of 3q29 Confer High Risk for Schizophrenia

Jennifer Gladys Mulle, Anne F. Dodd, John A. McGrath, Paula S. Wolyniec, Adele A. Mitchell, Amol C. Shetty, Nara L. Sobreira, David Valle, M. Katharine Rudd, Glen Satten, David J. Cutler, Ann E. Pulver, Stephen T. Warren

Am J Hum Genet. 2010 Aug 13; 87(2): 229–236. doi: 10.1016/j.ajhg.2010.07.013

PMCID:: PMC2917706

Abstract Article PDF–765K

Select item 240892513.

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Blake C Ballif, Aaron Theisen, Justine Coppinger, Gordon C Gowans, Joseph H Hersh, Suneeta Madan-Khetarpal, Karen R Schmidt, Raymond Tervo, Luis F Escobar, Christopher A Friedrich, Marie McDonald, Lindsey Campbell, Jeffrey E Ming, Elaine H Zackai, Bassem A Bejjani, Lisa G Shaffer

Mol Cytogenet. 2008; 1: 8. Published online 2008 Apr 28. doi: 10.1186/1755-8166-1-8

PMCID:: PMC2408925

Abstract Article PDF–335K

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