BretBostwickMD

PubMed

• 7 citations
  Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
  Toner, K. N., Erin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R Clause, Avin...> ;Genetics in Medicine. 2022 Sep 1
• 6 citations
  One is the loneliest number: genotypic matchmaking using the electronic health record.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Genetics in Medicine. 2021 Jul 6
• 1 citations
  Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
  Michelle E Walters, Mahshid S. Azamian, Rachel Franciskovich, Gladys Zapata, Patricia P. Hernandez, Pengfei Liu, Ian M. Campbell, Bret L. Bostwick, Seema R. Lalani> ;American Journal of Medical Genetics. Part A. 2021 Mar 1
• 6 citations
  Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.
  Caitlin M. Burk, Kara Coffey, Emily M. Mace, Bret L. Bostwick, Ivan K. Chinn, Zeynep Coban-Akdemir, Shalini N. Jhangiani, James R. Lupski, Damara Ortiz, Jessie L. Barn...> ;The Journal of Allergy and Clinical Immunology. in Practice. 2020 Mar 1
• 8 citations
  Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The A...
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Human Genetics. 2019 Sep 5
• 14 citations
  Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
  Ender Karaca, Jennifer E. Posey, Bret L. Bostwick, Pengfei Liu, Alper Gezdirici, Gozde Yesil, Zeynep Coban Akdemir, Yavuz Bayram, Frederike L. Harms, Peter Meinecke, M...> ;American Journal of Medical Genetics. Part A. 2019 Aug 13
• 48 citations
  C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
  Ravi Savarirayan, Melita Irving, Carlos A Bacino, Bret Bostwick, Joel Charrow, Valerie Cormier-Daire, Kim-Hanh Le Quan Sang, Patricia Dickson, Paul Harmatz, John Phill...> ;The New England Journal of Medicine. 2019 Jul 4
• 47 citations
  Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Human Genetics. 2019 Jun 6
• 50 citations
  Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
  Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nich...> ;American Journal of Human Genetics. 2019 Jan 3
• 3 citations
  The role of genomic approaches in diagnosis and management of primary immunodeficiency.
  Ivan K. Chinn, Bret L. Bostwick> ;Current Opinion in Pediatrics. 2018 Dec 1
• 52 citations
  Schaaf-Yang syndrome overview: Report of 78 individuals.
  John J. McCarthy, Philip J. Lupo, Erin Kovar, Megan E. Rech, Bret L. Bostwick, Daryl A. Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A. Schrier Vergano...> ;American Journal of Medical Genetics. Part A. 2018 Oct 10
• 104 citations
  Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
  M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas, Marietta M. de Guzman, Lisa R. Forbes, Ivan K. Chinn, Emily M. Mace, Tiphanie P. Vogel, Alexandre F. Carisey, Fel...> ;American Journal of Human Genetics. 2018 Jun 7
• 13 citations
  The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
  Andrea Klunder Petersen, Haley Streff, Mari Tokita, Bret L. Bostwick> ;American Journal of Medical Genetics. Part A. 2018 Jul 1
• 51 citations
  Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
  Pawel Stankiewicz, Tahir N. Khan, Przemyslaw Szafranski, Leah Slattery, Haley Streff, Francesco Vetrini, Jonathan A. Bernstein, Chester W. Brown, Jill A. Rosenfeld, Su...> ;American Journal of Human Genetics. 2017 Oct 5
• 298 citations
  Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
  Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar L. Magoulas, Andrew R. Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V. Dharmadhikari, Chunjing Qu, Patri...> ;JAMA Pediatrics. 2017 Dec 4
• 54 citations
  Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
  Bret L. Bostwick, Scott D. McLean, Jennifer E. Posey, Haley Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farre...> ;Genome Medicine. 2017 Aug 14
• 32 citations
  Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.
  Bret L. Bostwick, Ping Fang, Ankita Patel, V. Reid Sutton> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2016 Mar 1
• 33 citations
  Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions
  Marcus J. Miller, Bret L. Bostwick, Adam D. Kennedy, Taraka R. Donti, V. Reid Sutton, Sarah H. Elsea, Qin Sun> ;JIMD Reports. 2016 Jan 1
• 5 citations
  In vivo 6-thioguanine-resistant T cells from melanoma patients have public TCR and share TCR beta amino acid sequences with melanoma-reactive T cells.
  Cindy L. Zuleger, Michael D. Macklin, Bret L. Bostwick, Qinglin Pei, Michael A. Newton, Mark R. Albertini> ;Journal of Immunological Methods. 2011 Feb 28
• 10 citations
  A Drosophila behavioral mutant, down and out (dao), is defective in an essential regulator of Erg potassium channels
  Tim Fergestad, Harinath Sale, Bret L. Bostwick, Ashleigh E. Schaffer, Lingling Ho, Gail A. Robertson, Barry Ganetzky> ;Proceedings of the National Academy of Sciences of the United States of America. 2010 Mar 23
• 77 citations
  Metabolic Disruption in Drosophila Bang-Sensitive Seizure Mutants
  Tim Fergestad, Bret L. Bostwick, Barry Ganetzky> ;Genetics. 2006 Jul 1
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Journal Articles

• Schaaf‐Yang Syndrome Overview: Report of 78 Individuals  
  Joel Charrow, Edward Lose, Yves Lacassie, Philip J Lupo, Daryl Scott, Bret Bostwick, American Journal of Medical Genetics Part A
• Cover Image, Volume 172C, Number 1, March 2016  
  Bret Bostwick, Ping Fang, Ankita Patel, VR Sutton, Am J Med Genet C Semin Med Genet, 6/2016

Books/Book Chapters

• GeneReviews 
  Chapter: Focal Dermal Hypoplasia 
  Bostwick B, Van den Veyver IB, Sutton VREditors: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K.GeneReviews, Seattle