Lacey A Smith

Lacey A Smith

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Lacey A Smith

Lacey A Smith

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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.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
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 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
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Authors:
Heather E Olson Nolwenn Jean-Marçais Edward Yang Delphine Heron Katrina Tatton-Brown Paul A van der Zwaag Emilia K Bijlsma Bryan L Krock E Backer Erik-Jan Kamsteeg Margje Sinnema Margot R F Reijnders David Bearden Amber Begtrup Aida Telegrafi Roelineke J Lunsing Lydie Burglen Gaetan Lesca Megan T Cho Lacey A Smith Beth R Sheidley Christelle Moufawad El Achkar Phillip L Pearl Annapurna Poduri Cara M Skraban Jennifer Tarpinian Addie I Nesbitt Dietje E Fransen van de Putte Claudia A L Ruivenkamp Patrick Rump Nicolas Chatron Isabelle Sabatier Julitta De Bellescize Laurent Guibaud David A Sweetser Jessica L Waxler Klaas J Wierenga Jean Donadieu Vinodh Narayanan Keri M Ramsey Caroline Nava Jean-Baptiste Rivière Antonio Vitobello Frédéric Tran Mau-Them Christophe Philippe Ange-Line Bruel Yannis Duffourd Laurel Thomas Stefan H Lelieveld Janneke Schuurs-Hoeijmakers Han G Brunner Boris Keren Julien Thevenon Laurence Faivre Gary Thomas Christel Thauvin-Robinet

Am J Hum Genet 2018 10;103(4):631

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174321PMC
October 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Authors:
Heather E Olson Nolwenn Jean-Marçais Edward Yang Delphine Heron Katrina Tatton-Brown Paul A van der Zwaag Emilia K Bijlsma Bryan L Krock E Backer Erik-Jan Kamsteeg Margje Sinnema Margot R F Reijnders David Bearden Amber Begtrup Aida Telegrafi Roelineke J Lunsing Lydie Burglen Gaetan Lesca Megan T Cho Lacey A Smith Beth R Sheidley Christelle Moufawad El Achkar Phillip L Pearl Annapurna Poduri Cara M Skraban Jennifer Tarpinian Addie I Nesbitt Dietje E Fransen van de Putte Claudia A L Ruivenkamp Patrick Rump Nicolas Chatron Isabelle Sabatier Julitta De Bellescize Laurent Guibaud David A Sweetser Jessica L Waxler Klaas J Wierenga Jean Donadieu Vinodh Narayanan Keri M Ramsey Caroline Nava Jean-Baptiste Rivière Antonio Vitobello Frédéric Tran Mau-Them Christophe Philippe Ange-Line Bruel Yannis Duffourd Laurel Thomas Stefan H Lelieveld Janneke Schuurs-Hoeijmakers Han G Brunner Boris Keren Julien Thevenon Laurence Faivre Gary Thomas Christel Thauvin-Robinet

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

A Model Program for Translational Medicine in Epilepsy Genetics.

Authors:
Lacey A Smith Jeremy F P Ullmann Heather E Olson Christelle M El Achkar Gessica Truglio McKenna Kelly Beth Rosen-Sheidley Annapurna Poduri

J Child Neurol 2017 03 6;32(4):429-436. Epub 2017 Jan 6.

1 Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073816685654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625332PMC
March 2017

Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling.

Authors:
Lacey A Smith Jessica Douglas Alicia A Braxton Kate Kramer

J Genet Couns 2015 Aug 18;24(4):654-62. Epub 2014 Nov 18.

Genetic Counseling Program, Graduate School of Arts & Sciences, Brandeis University, Waltham, MA, USA,

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http://dx.doi.org/10.1007/s10897-014-9794-4DOI Listing
August 2015

Maternal smoking and the retinoid pathway in the developing lung.

Authors:
Sara E Manoli Lacey A Smith Carrie A Vyhlidal Chang Hyeok An Yolanda Porrata Wellington V Cardoso Rebecca M Baron Kathleen J Haley

Respir Res 2012 Jun 1;13:42. Epub 2012 Jun 1.

Department of Medicine, Division of Pulmonary and Critical Care, Brigham and Women's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1186/1465-9921-13-42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3479035PMC
June 2012

RUNX transcription factors: association with pediatric asthma and modulated by maternal smoking.

Authors:
Kathleen J Haley Jessica Lasky-Su Sara E Manoli Lacey A Smith Aliakbar Shahsafaei Scott T Weiss Kelan Tantisira

Am J Physiol Lung Cell Mol Physiol 2011 Nov 29;301(5):L693-701. Epub 2011 Jul 29.

Brigham and Women's Hospital, Division of Pulmonary and Critical Care Medicine, PBB-3, 75 Francis St., Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1152/ajplung.00348.2010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3213989PMC
November 2011