Publications Authored by Julie McCarrier

Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.

Authors:

Volkan Okur Katrin Watschinger Dmitriy Niyazov Julie McCarrier Donald Basel Martin Hermann Ernst R Werner Wendy K Chung

Hum Genet 2019 Dec 25;138(11-12):1259-1266. Epub 2019 Sep 25.

Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USA.

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http://dx.doi.org/10.1007/s00439-019-02065-x	DOI Listing

December 2019

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.

Authors:

Aditi Gupta Nikita R Dsouza Yuri A Zarate Rachel Lombardo Robert Hopkin Allison R Linehan Jamela Simpson Julie McCarrier Katherine E Agre Ralitza H Gavrilova Michael C Stephens Rayna M Grothe Kristin G Monaghan Yili Xie Donald Basel Raul A Urrutia Conrad R Cole Eric W Klee Michael T Zimmermann

Eur J Med Genet 2019 Nov 25:103817. Epub 2019 Nov 25.

Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103817	DOI Listing

November 2019

Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

Authors:

Daniel C Helbling David Mendoza Julie McCarrier Mark A Vanden Avond Matthew M Harmelink Paul E Barkhaus Donald Basel Michael W Lawlor

J Neuropathol Exp Neurol 2019 Mar;78(3):283-287

Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.

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http://dx.doi.org/10.1093/jnen/nlz004	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380315	PMC

March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:

Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522	PMC

March 2019

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Am J Hum Genet 2018 12 29;103(6):1038-1044. Epub 2018 Nov 29.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.024	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288413	PMC

December 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:

Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031	Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.09.006	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110	PMC

November 2018

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Hum Mutat 2018 02 14;39(2):281-291. Epub 2017 Dec 14.

Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/humu.23373	DOI Listing

February 2018

Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis.

Authors:

Donald Basel Julie McCarrier

Pediatr Clin North Am 2017 Feb;64(1):265-272

Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, 9000 West Wisconsin Avenue, MS 716, Milwaukee, WI 53226, USA.

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