Elizabeth J Bhoj

Elizabeth J Bhoj

UNVERIFIED PROFILE

Are you Elizabeth J Bhoj?   Register this Author

Register author
Elizabeth J Bhoj

Elizabeth J Bhoj

Publications by authors named "Elizabeth J Bhoj"

Are you Elizabeth J Bhoj?   Register this Author

27Publications

881Reads

48Profile Views

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Muenke syndrome: Medical and surgical comorbidities and long-term management.

Am J Med Genet A 2019 Aug 20;179(8):1442-1450. Epub 2019 May 20.

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61199
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.61199DOI Listing
August 2019

An Algorithm for the Assessment of Facial Asymmetry in Children With Focus on Etiology and Treatment.

Cleft Palate Craniofac J 2019 Mar 11;56(3):419-424. Epub 2018 May 11.

2 Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1055665618775725DOI Listing
March 2019

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

Am J Med Genet A 2018 09 2;176(9):2041-2043. Epub 2018 Aug 2.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40360DOI Listing
September 2018

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

Am J Med Genet A 2018 01 12;176(1):75-81. Epub 2017 Nov 12.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38516DOI Listing
January 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

Genet Med 2017 06 20;19(6):715-718. Epub 2016 Oct 20.

Division of Genomic Diagnostics and Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2016.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095193PMC
June 2017

Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.

Am J Med Genet A 2016 Feb 15;170A(2):482-486. Epub 2015 Oct 15.

Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.37438
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37438DOI Listing
February 2016

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.

Am J Med Genet A 2015 Nov 25;167A(11):2497-502. Epub 2015 Jun 25.

Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37217DOI Listing
November 2015

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

Am J Med Genet A 2015 Nov 25;167A(11):2548-54. Epub 2015 Jun 25.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37221DOI Listing
November 2015

Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.

Am J Med Genet A 2015 Apr 23;167A(4):852-7. Epub 2015 Feb 23.

Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36985DOI Listing
April 2015

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Nat Commun 2014 Jul 22;5:4483. Epub 2014 Jul 22.

1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ncomms5483
Publisher Site
http://dx.doi.org/10.1038/ncomms5483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109005PMC
July 2014

Pallor and lethargy in a 19-month-old boy.

Pediatr Emerg Care 2014 Jun;30(6):444-6

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PEC.0000000000000174DOI Listing
June 2014

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

Eur J Hum Genet 2011 May 2;19(5):540-6. Epub 2011 Feb 2.

McDermott Center for Human Growth and Development and Department of Internal Medicine, The University of Texas Southwestern Medical Center, Dallas, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2010.245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083624PMC
May 2011

MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.

Mol Cytogenet 2009 Feb 13;2. Epub 2009 Feb 13.

McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1755-8166-2-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2646739PMC
February 2009

MAVS and MyD88 are essential for innate immunity but not cytotoxic T lymphocyte response against respiratory syncytial virus.

Proc Natl Acad Sci U S A 2008 Sep 9;105(37):14046-51. Epub 2008 Sep 9.

Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9148, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0804717105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2532974PMC
September 2008