Publications by authors named "Philip M Boone"

24Publications

Free, online videos for distance learning in medical genetics.

Eur J Med Genet 2020 Sep 12;63(9):103983. Epub 2020 Jun 12.

Center for Genomic Medicine, Massachusetts General Hospital, Boston, USA; Division of Genetics and Genomics, Boston Children's Hospital, USA; Harvard Medical School Genetics Training Program, Boston, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291974PMC
September 2020

The Genetics of Pneumothorax.

Am J Respir Crit Care Med 2019 06;199(11):1344-1357

5 Pulmonary Genetics Center, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts; and.

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https://www.atsjournals.org/doi/10.1164/rccm.201807-1212CI
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http://dx.doi.org/10.1164/rccm.201807-1212CIDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543724PMC
June 2019

Familial pneumothorax: towards precision medicine.

Thorax 2018 03 28;73(3):270-276. Epub 2017 Dec 28.

Wellcome Trust/MRC Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK.

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http://thorax.bmj.com/lookup/doi/10.1136/thoraxjnl-2017-2111
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http://dx.doi.org/10.1136/thoraxjnl-2017-211169DOI Listing
March 2018

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

Am J Med Genet A 2016 11 13;170(11):3028-3032. Epub 2016 Jul 13.

Department of Molecular and Human Genetics, Baylor College of Medicine.

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http://dx.doi.org/10.1002/ajmg.a.37847DOI Listing
November 2016

Adolescents, Family History, and Inherited Disease Risk: An Opportunity.

Authors:
Philip M Boone

Pediatrics 2016 08 1;138(2). Epub 2016 Jul 1.

Boston Combined Residency Program in Pediatrics, Boston, Massachusetts and Harvard Medical School Genetics Training Program, Boston, Massachusetts

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http://dx.doi.org/10.1542/peds.2016-0579DOI Listing
August 2016

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

Mol Genet Genomic Med 2016 Jan 14;4(1):77-94. Epub 2015 Nov 14.

Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Department of PediatricsBaylor College of MedicineHoustonTexas; Texas Children's HospitalHoustonTexas; Department of OphthalmologyBaylor College of MedicineHoustonTexas; Department of MedicineBaylor College of MedicineHoustonTexas.

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http://dx.doi.org/10.1002/mgg3.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707028PMC
January 2016

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.

Genom Data 2014 Dec;2:144-146

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen 6500 HB, The Netherlands.

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http://dx.doi.org/10.1016/j.gdata.2014.06.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526866PMC
December 2014

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Am J Hum Genet 2014 Aug 24;95(2):143-61. Epub 2014 Jul 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129405PMC
August 2014

Detection of clinically relevant copy number variants with whole-exome sequencing.

Hum Mutat 2013 Oct 30;34(10):1439-48. Epub 2013 Aug 30.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, 6500 HB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22387DOI Listing
October 2013

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.

Am J Med Genet A 2011 Aug 7;155A(8):2024-7. Epub 2011 Jul 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.34098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140606PMC
August 2011

Genomic medicine and neurological disease.

Hum Genet 2011 Jul 19;130(1):103-21. Epub 2011 May 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-011-1001-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3133694PMC
July 2011