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Items: 16

1.
Normal IQ is possible in Smith-Lemli-Opitz syndrome
Yasemen Eroglu, Mina Nguyen-Driver, Robert D. Steiner, Louise Merkens, Mark Merkens, Jean-Baptiste Roullet, Ellen Elias, Geeta Sarphare, Forbes D. Porter, Chumei Li, Elaine Tierney, Małgorzata J. Nowaczyk, Kurt A. Freeman
Am J Med Genet A. Author manuscript; available in PMC 2018 Jun 25.
Published in final edited form as: Am J Med Genet A. 2017 Aug; 173(8): 2097–2100. Published online 2017 Mar 27. doi: 10.1002/ajmg.a.38125
PMCID:
PMC6016830
ArticlePDF–61K
2.
Pulmonary Vein Stenosis in Patients with Smith-Lemli-Opitz Syndrome
Aaron R. Prosnitz, Jane Leopold, Mira Irons, Kathy Jenkins, Amy E. Roberts
Congenit Heart Dis. Author manuscript; available in PMC 2018 Jul 18.
Published in final edited form as: Congenit Heart Dis. 2017 Jul; 12(4): 475–483. Published online 2017 Jul 18. doi: 10.1111/chd.12471
PMCID:
PMC5825182
ArticlePDF–617K
3.
A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
Christopher A. Wassif, Lisa Kratz, Susan E. Sparks, Courtney Wheeler, Simona Bianconi, Andrea Gropman, Karim A. Calis, Richard I. Kelley, Elaine Tierney, Forbes D. Porter
Genet Med. Author manuscript; available in PMC 2017 Mar 7.
Published in final edited form as: Genet Med. 2017 Mar; 19(3): 297–305. Published online 2016 Aug 11. doi: 10.1038/gim.2016.102
PMCID:
PMC5303568
ArticlePDF–811K
4.
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update
Audrey Thurm, Elaine Tierney, Cristan Farmer, Phebe Albert, Lisa Joseph, Susan Swedo, Simona Bianconi, Irena Bukelis, Courtney Wheeler, Geeta Sarphare, Diane Lanham, Christopher A. Wassif, Forbes D. Porter
J Neurodev Disord. 2016; 8: 12. Published online 2016 Apr 5. doi: 10.1186/s11689-016-9145-x
PMCID:
PMC4822234
ArticlePDF–493K
5.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
ArticlePDF–960K
6.
Determination of the Allelic Frequency in Smith-Lemli-Opitz Syndrome by Analysis of Massively Parallel Sequencing Data Sets
Joanna L. Cross, James Iben, Claire Simpson, Audrey Thurm, Susan Swedo, Elaine Tierney, Joan Bailey-Wilson, Leslie G. Biesecker, Forbes D. Porter, Christopher A. Wassif
Clin Genet. Author manuscript; available in PMC 2016 Jun 1.
Published in final edited form as: Clin Genet. 2015 Jun; 87(6): 570–575. Published online 2014 Jun 6. doi: 10.1111/cge.12425
PMCID:
PMC4225182
ArticlePDF–274K
7.
Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders
Melissa D. Svoboda, Jill M. Christie, Yasemen Eroglu, Kurt A. Freeman, Robert D. Steiner
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2014 Jan 13.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2012 Nov 15; 0(4): 285–294. Published online 2012 Oct 5. doi: 10.1002/ajmg.c.31347
PMCID:
PMC3890258
ArticlePDF–246K
8.
Pregnancy in an Individual with Mild Smith-Lemli-Opitz Syndrome
Marissa S. Ellingson, Myra J. Wick, Wendy M. White, Kimiyo M. Raymond, Amy K. Saenger, Pavel N. Pichurin, Christopher A. Wassif, Forbes D. Porter, Dusica Babovic-Vuksanovic
Clin Genet. Author manuscript; available in PMC 2015 May 1.
Published in final edited form as: Clin Genet. 2014 May; 85(5): 495–497. Published online 2013 Jun 24. doi: 10.1111/cge.12209
PMCID:
PMC3883898
ArticlePDF–750K
9.
Brain Magnetic Resonance Imaging Findings in Smith-Lemli-Opitz Syndrome
Ryan W.Y. Lee, Sandra K. Conley, Andrea Gropman, Forbes D. Porter, Eva H. Baker
Am J Med Genet A. Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: Am J Med Genet A. 2013 Oct; 161(10): 2407–2419. Published online 2013 Aug 5. doi: 10.1002/ajmg.a.36096
PMCID:
PMC3787998
ArticlePDF–2.4M
10.
Adrenal function in Smith-Lemli-Opitz Syndrome
Simona E Bianconi, Sandra K Conley, Meg F Keil, Ninet Sinaii, Kristina I Rother, Forbes D Porter, Constantine A Stratakis
Am J Med Genet A. Author manuscript; available in PMC 2012 Nov 4.
Published in final edited form as: Am J Med Genet A. 2011 Nov; 155A(11): 2732–2738. Published online 2011 Oct 11. doi: 10.1002/ajmg.a.34271
PMCID:
PMC3488380
ArticlePDF–183K
11.
Discordant Clinical Phenotype and Sterol Biochemistry in Smith-Lemli-Opitz Syndrome
Grace Koo, Sandra K. Conley, Christopher A. Wassif, Forbes D. Porter
Am J Med Genet A. Author manuscript; available in PMC 2011 Jan 26.
Published in final edited form as: Am J Med Genet A. 2010 Aug; 152A(8): 2094–2098. doi: 10.1002/ajmg.a.33540
PMCID:
PMC3027211
ArticlePDF–323K
12.
Cyclopia (Synophthalmia) in Smith-Lemli-Opitz Syndrome – First Reported Case and Consideration of Mechanism
David D. Weaver, Benjamin D. Solomon, Kelly Akin-Samson, Richard I. Kelley, Maximilian Muenke
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2011 Feb 15.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2010 Feb 15; 154C(1): 142–145. doi: 10.1002/ajmg.c.30241
PMCID:
PMC2815131
ArticlePDF–377K
13.
Potential of sterol analysis by liquid chromatography - tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome
William J. Griffiths, Yuqin Wang, Kersti Karu, Emmanuel Samuel, Shane McDonnell, Martin Hornshaw, Cedric Shackleton
Clin Chem. Author manuscript; available in PMC 2008 Sep 10.
Published in final edited form as: Clin Chem. 2008 Aug; 54(8): 1317–1324. Published online 2008 Jun 12. doi: 10.1373/clinchem.2007.100644
PMCID:
PMC2533047
ArticlePDF–793K
14.
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome
M Witsch-Baumgartne..., M Gruber, H Kraft, M Rossi, P Clayton, M Giros, D Haas, R Kelley, M Krajewska-Walasek, G Utermann
J Med Genet. 2004 Aug; 41(8): 577–584. doi: 10.1136/jmg.2004.018085
PMCID:
PMC1735869
SummaryPDF–213K
15.
The Smith-Lemli-Opitz syndrome
R. Kelley, R. Hennekam
J Med Genet. 2000 May; 37(5): 321–335. doi: 10.1136/jmg.37.5.321
PMCID:
PMC1734573
SummaryPDF–225K
16.
Normal Cognition and Behavior in a Smith-Lemli-Opitz Syndrome Patient Who Presented With Hirschsprung Disease
C. Mueller, S. Patel, M. Irons, K. Antshel, G. Salen, G.S. Tint, C. Bay
Am J Med Genet A. Author manuscript; available in PMC 2005 Sep 13.
Published in final edited form as: Am J Med Genet A. 2003 Nov 15; 123(1): 100–106. doi: 10.1002/ajmg.a.20491
PMCID:
PMC1201564
ArticlePDF–1.1M

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