Publications by authors named "Dustin Baldridge"

21Publications

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

Am J Med Genet A 2020 Nov 13. Epub 2020 Nov 13.

Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Saint Louis Children's Hospital, Saint Louis, Missouri, USA.

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http://dx.doi.org/10.1002/ajmg.a.61962DOI Listing
November 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Precise breakpoint detection in a patient with 9p- syndrome.

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

Department of Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1101/mcs.a005348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304358PMC
June 2020

MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.

Am J Med Genet B Neuropsychiatr Genet 2020 06 8;183(4):227-233. Epub 2020 Apr 8.

Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri, USA.

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http://dx.doi.org/10.1002/ajmg.b.32781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7605444PMC
June 2020

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

Am J Med Genet A 2020 05 21;182(5):1053-1065. Epub 2020 Feb 21.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1002/ajmg.a.61518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295006PMC
May 2020

Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons.

Mol Autism 2019 30;10:51. Epub 2019 Dec 30.

1Department of Developmental Biology, Washington University School of Medicine, 660 S. Euclid Avenue, St. Louis, MO 63110 USA.

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http://dx.doi.org/10.1186/s13229-019-0306-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6936127PMC
June 2020

22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1101/mcs.a004291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913156PMC
December 2019

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Am J Hum Genet 2018 12 7;103(6):968-975. Epub 2018 Nov 7.

Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288318PMC
December 2018

Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome.

Cell Rep 2018 11;25(6):1404-1414.e6

Department of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA; Division of Biology and Biomedical Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183163
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http://dx.doi.org/10.1016/j.celrep.2018.10.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261530PMC
November 2018

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genet Med 2017 09 2;19(9):1040-1048. Epub 2017 Mar 2.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1038/gim.2016.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581723PMC
September 2017

Digynic triploidy: utility and challenges of noninvasive prenatal testing.

Clin Case Rep 2015 Jun 9;3(6):406-10. Epub 2015 Apr 9.

Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine St. Louis, Missouri.

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http://dx.doi.org/10.1002/ccr3.247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498852PMC
June 2015

Signaling pathways in human skeletal dysplasias.

Annu Rev Genomics Hum Genet 2010 ;11:189-217

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

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http://dx.doi.org/10.1146/annurev-genom-082908-150158DOI Listing
September 2010