Publications by authors named "Benjamin D Solomon"

100Publications

The Role of Host Genetic Factors in Coronavirus Susceptibility: Review of Animal and Systematic Review of Human Literature.

Am J Hum Genet 2020 09 12;107(3):381-402. Epub 2020 Aug 12.

Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7420067PMC
September 2020

Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech.

Am J Med Genet A 2020 Sep 23;182(9):2003-2004. Epub 2020 Jul 23.

Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.61766DOI Listing
September 2020

Management of Secondary Genomic Findings.

Am J Hum Genet 2020 07;107(1):3-14

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332641PMC
July 2020

Going forward in a new world.

Am J Med Genet A 2020 07 9;182(7):1553-1554. Epub 2020 Jun 9.

Washington, District of Columbia, USA.

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http://dx.doi.org/10.1002/ajmg.a.61715DOI Listing
July 2020

Response to Wang et al.

Genet Med 2019 09 1;21(9):2158. Epub 2019 Mar 1.

Department of Pediatrics and Medicine, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41436-019-0469-2DOI Listing
September 2019

The etiology of VACTERL association: Current knowledge and hypotheses.

Am J Med Genet C Semin Med Genet 2018 12;178(4):440-446

GeneDx, Gaithersburg, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31664DOI Listing
December 2018

Response to Evans et al.

Genet Med 2019 08 19;21(8):1880-1881. Epub 2018 Dec 19.

Department of Pediatrics and Medicine, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41436-018-0400-2DOI Listing
August 2019

Cancer genetics program: Follow-up on clinical genetics and genomic medicine in Qatar.

Mol Genet Genomic Med 2018 11 16;6(6):865-872. Epub 2018 Dec 16.

Department of Medical Oncology, National Center of Cancer Care and Research, Hamad Medical Corporation, Doha, Qatar.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.534
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http://dx.doi.org/10.1002/mgg3.534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305668PMC
November 2018

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

Am J Med Genet A 2018 11 5;176(11):2451-2455. Epub 2018 Oct 5.

Division of Dermatology, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.40485DOI Listing
November 2018

Holoprosencephaly flashcards: An updated summary for the clinician.

Am J Med Genet C Semin Med Genet 2018 06;178(2):117-121

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31621DOI Listing
June 2018

Introduction.

Am J Med Genet C Semin Med Genet 2018 06;178(2):113-116

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31626DOI Listing
June 2018

Phenotypic diversity of patients diagnosed with VACTERL association.

Am J Med Genet A 2018 09 27;176(9):1830-1837. Epub 2018 Aug 27.

Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California-Irvine, School of Medicine, Irvine, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.40363DOI Listing
September 2018

Early inspirations from times gone by.

Am J Med Genet A 2018 Sep 31;176(9):1797-1798. Epub 2018 Jul 31.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.40474
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http://dx.doi.org/10.1002/ajmg.a.40474DOI Listing
September 2018

Response to ten Broeke et al.

Genet Med 2019 01 24;21(1):258-259. Epub 2018 May 24.

Department of Pediatrics and Medicine, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1038/s41436-018-0031-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252164PMC
January 2019

Holoprosencephaly: A clinical genomics perspective.

Am J Med Genet C Semin Med Genet 2018 06 11;178(2):194-197. Epub 2018 May 11.

GeneDx, Gaithersburg, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31613DOI Listing
June 2018

Clinical, Social, and Genetic Factors Associated with Obesity at 12 Months of Age.

J Pediatr 2018 05 9;196:175-181.e7. Epub 2018 Feb 9.

Inova Translational Medicine Institute, Falls Church, VA; Inova Children's Hospital, Falls Church, VA; Pediatric Specialists of Virginia, Fairfax, VA.

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http://dx.doi.org/10.1016/j.jpeds.2017.12.042DOI Listing
May 2018

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

Cold Spring Harb Mol Case Stud 2017 Nov 21;3(6). Epub 2017 Nov 21.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1101/mcs.a002055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701300PMC
November 2017

Efforts Toward Consensus Variant Interpretation by Commercial Laboratories.

J Clin Oncol 2017 04 30;35(11):1261-1262. Epub 2017 Jan 30.

Jill S. Dolinsky, Ambry Genetics, Aliso Viejo, CA; Kathleen S. Hruska, GeneDx, Gaithersburg, MD; Tina Pesaran and Marcy E. Richardson, Ambry Genetics, Aliso Viejo, CA; Rachel T. Klein and Benjamin D. Solomon, GeneDx, Gaithersburg, MD; and Chia-Ling Gau, Ambry Genetics, Aliso Viejo, CA.

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http://dx.doi.org/10.1200/JCO.2016.71.2505DOI Listing
April 2017

A Child's HLA-DRB1 genotype increases maternal risk of systemic lupus erythematosus.

J Autoimmun 2016 11 4;74:201-207. Epub 2016 Jul 4.

Genetic Epidemiology and Genomics Lab, Division of Epidemiology, School of Public Health, University of California Berkeley, 324 Stanley Hall, Berkeley, CA 94720-3220, USA; California Institute for Quantitative Biosciences (QB3), University of California Berkeley, 174 Stanley Hall, Berkeley, CA 94720-3220, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079818PMC
http://dx.doi.org/10.1016/j.jaut.2016.06.017DOI Listing
November 2016

Antigen-Specific Development of Mucosal Foxp3+RORγt+ T Cells from Regulatory T Cell Precursors.

J Immunol 2016 11 26;197(9):3512-3519. Epub 2016 Sep 26.

Division of Rheumatology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110

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http://www.jimmunol.org/lookup/doi/10.4049/jimmunol.1601217
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http://dx.doi.org/10.4049/jimmunol.1601217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5101183PMC
November 2016

A 2.5-year snapshot of Mendelian discovery.

Mol Genet Genomic Med 2016 Jul 3;4(4):392-4. Epub 2016 Apr 3.

Computational and Statistical Genomics Branch National Human Genome Research Institute Bethesda Maryland 20892.

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http://dx.doi.org/10.1002/mgg3.221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947858PMC
July 2016

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Brain 2016 09 24;139(Pt 9):e52. Epub 2016 Jun 24.

1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 4 Department of Pediatrics, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA 6 Inova Children's Hospital, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1093/brain/aww135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841196PMC
September 2016

Parent-of-origin-specific signatures of de novo mutations.

Nat Genet 2016 08 20;48(8):935-9. Epub 2016 Jun 20.

Inova Translational Medicine Institute (ITMI), Inova Health Systems, Falls Church, Virginia, USA.

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http://dx.doi.org/10.1038/ng.3597DOI Listing
August 2016

Tracking medical genetic literature through machine learning.

Mol Genet Metab 2016 08 22;118(4):255-8. Epub 2016 May 22.

Inova Translational Medicine Institute, Falls Church, VA 22042, USA; Inova Children's Hospital, Falls Church, VA 22042, USA; Department of Pediatrics, Virginia Commonwealth University, Richmond, VA 23298, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.05.016DOI Listing
August 2016

Considerations of pharmacogenetic testing in children.

Pharmacogenomics 2016 06 1;17(9):975-7. Epub 2016 Jun 1.

Division of Medical Genomics, Inova Translational Medicine Institute, Associate Professor, Virginia Commonwealth University School of Medicine, 3300 Gallows Road, 2nd Floor, Claude Moore Building, Falls Church, VA 22042, USA.

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http://dx.doi.org/10.2217/pgs-2016-0073DOI Listing
June 2016

X-Linked Candidate Genes for a Ciliopathy-Like Disorder.

Mol Syndromol 2016 Apr 16;7(1):37-42. Epub 2016 Mar 16.

Division of Medical Genomics, Inova Translational Medicine Institute, Washington, D.C., USA; Department of Pediatrics, Children's National Medical Center, Washington, D.C., USA; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Va., Washington, D.C., USA.

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http://dx.doi.org/10.1159/000444666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862391PMC
April 2016

Genomics ruins a genre.

Per Med 2016 May 22;13(3):221-224. Epub 2016 Mar 22.

Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, VA, USA.

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https://www.futuremedicine.com/doi/10.2217/pme-2016-0001
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http://dx.doi.org/10.2217/pme-2016-0001DOI Listing
May 2016

New observations on maternal age effect on germline de novo mutations.

Nat Commun 2016 Jan 19;7:10486. Epub 2016 Jan 19.

Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1038/ncomms10486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735694PMC
January 2016

The Benefits of Whole-Genome Sequencing Now and in the Future.

Mol Syndromol 2015 Sep 13;6(3):108-9. Epub 2015 Aug 13.

Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Va., USA; Inova Children's Hospital, Inova Health System, Falls Church, Va., USA; Department of Pediatrics, Virginia Commonwealth University (VCU) School of Medicine, Richmond, Va., USA.

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http://dx.doi.org/10.1159/000438732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702011PMC
September 2015

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

J Med Genet 2015 Dec 18;52(12):830-9. Epub 2015 Sep 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517294PMC
December 2015

GLI2 mutations typically result in pituitary anomalies with or without postaxial polydactyly.

Am J Med Genet A 2015 Oct 14;167A(10):2491-2. Epub 2015 May 14.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.37160DOI Listing
October 2015

Genomic sequencing and the impact of molecular diagnosis on patient care.

Mol Syndromol 2015 Feb 21;6(1):4-6. Epub 2015 Jan 21.

Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Va., USA ; Department of Pediatrics, Inova Health System, Virginia Commonwealth University (VCU) School of Medicine, Falls Church, Va., USA ; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Md., USA.

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http://dx.doi.org/10.1159/000371398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369117PMC
February 2015

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

Am J Med Genet A 2015 May 25;167A(5):1111-6. Epub 2015 Feb 25.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia; Department of Pediatrics, Inova Health System, Falls Church, Virginia; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.36883DOI Listing
May 2015

Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.

Int J Pediatr Otorhinolaryngol 2014 Dec 28;78(12):2037-47. Epub 2014 Sep 28.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ijporl.2014.09.019DOI Listing
December 2014

Analysis of renal anomalies in VACTERL association.

Birth Defects Res A Clin Mol Teratol 2014 Oct 5;100(10):801-5. Epub 2014 Sep 5.

Department of Pediatrics, Walter Reed National Military Medical Center-Bethesda, Maryland; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/bdra.23302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211938PMC
October 2014

Mutations in NOTCH1 cause Adams-Oliver syndrome.

Am J Hum Genet 2014 Sep 14;95(3):275-84. Epub 2014 Aug 14.

Department of Medical Genetics and Child and Family Research Institute, University of British Columbia, Vancouver, BC V6H 3N1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157158PMC
September 2014

Obstacles and opportunities for the future of genomic medicine.

Mol Genet Genomic Med 2014 May 6;2(3):205-9. Epub 2014 May 6.

Division of Medical Genomics, Inova Translational Medicine Institute, Inova Health System Falls Church, Virginia ; Department of Pediatrics, Inova Children's Hospital, Inova Health System Falls Church, Virginia.

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http://dx.doi.org/10.1002/mgg3.78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049360PMC
May 2014

T-cell selection and intestinal homeostasis.

Immunol Rev 2014 May;259(1):60-74

Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1111/imr.12171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028094PMC
May 2014

Incidentalomas in genomics and radiology.

N Engl J Med 2014 Mar;370(11):988-90

From the Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, and the Inova Translational Medicine Institute, Falls Church, VA.

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http://dx.doi.org/10.1056/NEJMp1310471DOI Listing
March 2014

T cell immunodominance is dictated by the positively selecting self-peptide.

Elife 2014 14;3:e01457. Epub 2014 Jan 14.

Department of Immunology and Pathology, Washington University School of Medicine, St. Louis, United States.

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http://dx.doi.org/10.7554/eLife.01457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885792PMC
November 2015

Analysis of cardiac anomalies in VACTERL association.

Birth Defects Res A Clin Mol Teratol 2013 Dec;97(12):792-7

Department of Pediatrics, Walter Reed National Military Medical Center-Bethesda, Maryland; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/bdra.23211DOI Listing
December 2013

Clinical genomic database.

Proc Natl Acad Sci U S A 2013 Jun 21;110(24):9851-5. Epub 2013 May 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1302575110
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http://dx.doi.org/10.1073/pnas.1302575110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683745PMC
June 2013

Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.

Am J Med Genet A 2013 Mar 1;161A(3):453-60. Epub 2013 Feb 1.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajmg.a.35233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581720PMC
March 2013

Clinical geneticists' views of VACTERL/VATER association.

Am J Med Genet A 2012 Dec 19;158A(12):3087-100. Epub 2012 Nov 19.

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.35638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3507421PMC
December 2012

When to suspect a genetic syndrome.

Am Fam Physician 2012 Nov;86(9):826-33

National Human Genome Research Institute, Bethesda, MD 20892-3717, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131944PMC
November 2012

Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.

Pediatr Neurol 2012 Nov;47(5):355-61

Clinical Research Training Program, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133743PMC
November 2012

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.

Childs Nerv Syst 2012 Sep 8;28(9):1447-63. Epub 2012 Aug 8.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s00381-012-1756-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101189PMC
September 2012

Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan.

Am J Med Genet A 2012 May 7;158A(5):1244-1245. Epub 2012 Feb 7.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.35207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3331949PMC
May 2012

Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.

Clin Dysmorphol 2012 Oct;21(4):183-90

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-3717, USA.

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https://insights.ovid.com/crossref?an=00019605-201210000-000
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http://dx.doi.org/10.1097/MCD.0b013e3283551fd0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131985PMC
October 2012

Incidental medical information in whole-exome sequencing.

Pediatrics 2012 Jun 14;129(6):e1605-11. Epub 2012 May 14.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1542/peds.2011-0080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362899PMC
June 2012

Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).

J Craniofac Surg 2012 May;23(3):664-8

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1097/SCS.0b013e31824db8bbDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3361570PMC
May 2012

Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.

Mol Genet Metab 2012 Jun 21;106(2):241-3. Epub 2012 Mar 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356444PMC
June 2012

A common genetic network underlies substance use disorders and disruptive or externalizing disorders.

Hum Genet 2012 Jun 11;131(6):917-29. Epub 2012 Apr 11.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://link.springer.com/10.1007/s00439-012-1164-4
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http://dx.doi.org/10.1007/s00439-012-1164-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351604PMC
June 2012

Evidence for SHH as a candidate gene for encephalocele.

Clin Dysmorphol 2012 Jul;21(3):148-51

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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https://insights.ovid.com/crossref?an=00019605-201207000-000
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http://dx.doi.org/10.1097/MCD.0b013e3283518eb0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366050PMC
July 2012

New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

Pediatr Dermatol 2012 Jan-Feb;29(1):89-95. Epub 2011 Oct 13.

Schneider Children's Medical Center of Israel and Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

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http://dx.doi.org/10.1111/j.1525-1470.2011.01403.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131925PMC
May 2012

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

Am J Med Genet A 2011 Nov 4;155A(11):2713-20. Epub 2011 Oct 4.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20814, USA.

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http://dx.doi.org/10.1002/ajmg.a.34261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200498PMC
November 2011

Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension.

Childs Nerv Syst 2011 Dec 5;27(12):2183-6. Epub 2011 Oct 5.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s00381-011-1595-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101181PMC
December 2011

VACTERL/VATER Association.

Orphanet J Rare Dis 2011 Aug 16;6:56. Epub 2011 Aug 16.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35/Room 1B-207, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1186/1750-1172-6-56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169446PMC
August 2011

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.

Hum Genet 2012 Feb 13;131(2):301-10. Epub 2011 Aug 13.

Medical Genetics Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://dx.doi.org/10.1007/s00439-011-1078-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695622PMC
February 2012

Holoprosencephaly: a guide to diagnosis and clinical management.

Indian Pediatr 2011 Jun;48(6):457-66

HHMI-NIH Research Scholars Program, Howard Hughes Medical Institute, Chevy Chase, MD, United States.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131946PMC
http://dx.doi.org/10.1007/s13312-011-0078-xDOI Listing
June 2011

De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.

Birth Defects Res A Clin Mol Teratol 2011 Sep 23;91(9):862-5. Epub 2011 May 23.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/bdra.20821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193386PMC
September 2011

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.

Am J Med Genet A 2011 Apr 17;155A(4):860-4. Epub 2011 Mar 17.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.33903DOI Listing
April 2011