Lindsay B Henderson

Lindsay B Henderson

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Lindsay B Henderson

Lindsay B Henderson

Publications by authors named "Lindsay B Henderson"

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A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.

Clin Dysmorphol 2020 Jul;29(3):161-164

School of Medicine, University of Missouri Kansas City.

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http://dx.doi.org/10.1097/MCD.0000000000000316DOI Listing
July 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 Jul 31. 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
July 2020

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

The impact of chromosomal microarray on clinical management: a retrospective analysis.

Genet Med 2014 Sep 13;16(9):657-64. Epub 2014 Mar 13.

1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA [2] Cytogenetics Laboratory, Kennedy Krieger Institute, Baltimore, Maryland, USA [3] Department of Pathology, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2014.18DOI Listing
September 2014

Large ABCA3 and SFTPC deletions resulting in lung disease.

Ann Am Thorac Soc 2013 Dec;10(6):602-7

1 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.

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http://dx.doi.org/10.1513/AnnalsATS.201306-170OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960967PMC
December 2013

First trimester diagnosis of holoprosencephaly secondary to a ring chromosome 7.

Case Rep Genet 2013 21;2013:578202. Epub 2013 Feb 21.

Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1155/2013/578202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3594923PMC
March 2013

Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.

PLoS Genet 2012 15;8(3):e1002580. Epub 2012 Mar 15.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1371/journal.pgen.1002580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3305406PMC
September 2012

Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respir Res 2010 Oct 8;11:140. Epub 2010 Oct 8.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1186/1465-9921-11-140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964615PMC
October 2010