Lance H Rodan

Lance H Rodan

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Lance H Rodan

Lance H Rodan

Publications by authors named "Lance H Rodan"

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation.

Mov Disord Clin Pract 2019 Jul 21;6(6):494-497. Epub 2019 Jun 21.

Department of Neurology Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.

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http://dx.doi.org/10.1002/mdc3.12797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660234PMC
July 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 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.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 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

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Mol Genet Metab 2018 09 15;125(1-2):118-126. Epub 2018 Jun 15.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183011
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http://dx.doi.org/10.1016/j.ymgme.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557438PMC
September 2018

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Mol Genet Metab 2018 06 6;124(2):161-167. Epub 2018 Apr 6.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183004
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http://dx.doi.org/10.1016/j.ymgme.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976541PMC
June 2018

Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome.

Eur J Paediatr Neurol 2018 May 19;22(3):544-547. Epub 2018 Feb 19.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173198
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http://dx.doi.org/10.1016/j.ejpn.2018.02.005DOI Listing
May 2018

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):149-155. Epub 2017 Dec 10.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1002/mdc3.12573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005694PMC
December 2017

Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

Pediatr Neurol 2017 Nov 3;76:47-53. Epub 2017 Jun 3.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008785PMC
November 2017

Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation.

Clin Chem 2017 11;63(11):1771-1773

Division of Genetics and Metabolism and Department of Neurology, Boston Children's Hospital, Boston, MA.

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http://dx.doi.org/10.1373/clinchem.2017.279497DOI Listing
November 2017

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

JIMD Rep 2018 9;40:17-22. Epub 2017 Sep 9.

Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/8904_2017_55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122020PMC
September 2017

Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child.

Clin Chem 2017 06;63(6):1171-1173

Division of Genetics and Metabolism, and.

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http://dx.doi.org/10.1373/clinchem.2017.271643DOI Listing
June 2017

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.

Pediatr Emerg Care 2017 Apr;33(4):296-301

From the *Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; and †Department of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/PEC.0000000000001093DOI Listing
April 2017

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.

Pediatr Emerg Care 2017 Feb;33(2):142-146

*Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; and †Department of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/PEC.0000000000001028DOI Listing
February 2017

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.

J Child Neurol 2017 01 23;32(1):127-131. Epub 2016 Oct 23.

2 Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1177/0883073816672998DOI Listing
January 2017

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.

Eur J Hum Genet 2016 12 22;24(12):1826-1827. Epub 2016 Jun 22.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

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http://www.nature.com/articles/ejhg201674
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http://dx.doi.org/10.1038/ejhg.2016.74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117927PMC
December 2016

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

J Child Neurol 2016 07 6;31(8):1027-35. Epub 2016 Apr 6.

Department of Neurology, Boston Children's Hospital, Boston, MA, USA Department of Neurology, Massachusetts General Hospital, Boston, MA, USA Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073816635749DOI Listing
July 2016

A 10-Month-Old With Intermittent Hypotonia and Paralysis.

Pediatrics 2016 07 1;138(1). Epub 2016 Jun 1.

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts;

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http://dx.doi.org/10.1542/peds.2015-1896DOI Listing
July 2016

L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome.

PLoS One 2015 20;10(5):e0127066. Epub 2015 May 20.

Division of Neurology, Dept. of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ont., Canada, M5G 1X8; Dept. of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ont., Canada, M5G 1X8.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0127066PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439047PMC
April 2016

N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.

JIMD Rep 2017 30;31:73-77. Epub 2016 Apr 30.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/8904_2016_555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388641PMC
April 2016

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome.

Neurol Genet 2016 Feb 14;2(1):e43. Epub 2016 Jan 14.

Hospital for Sick Children, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817900PMC
February 2016

Clinical Use of CSF Neurotransmitters.

Pediatr Neurol 2015 Oct 11;53(4):277-86. Epub 2015 Jun 11.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994150027
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http://dx.doi.org/10.1016/j.pediatrneurol.2015.04.016DOI Listing
October 2015

Anti-glutamic Acid decarboxylase antibody associated limbic encephalitis in a child: expanding the spectrum of pediatric inflammatory brain diseases.

J Child Neurol 2014 May 3;29(5):677-83. Epub 2013 Oct 3.

1Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1177/0883073813500527DOI Listing
May 2014

MR spectroscopy in pediatric Wernicke encephalopathy.

Neurology 2013 Mar;80(10):969

Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1212/WNL.0b013e3182840cd9DOI Listing
March 2013

Reversible splenial lesion syndrome in pediatric systemic lupus erythematosus.

J Rheumatol 2012 Aug;39(8):1698-9

The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.

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http://www.jrheum.org/lookup/doi/10.3899/jrheum.120390
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http://dx.doi.org/10.3899/jrheum.120390DOI Listing
August 2012

A citywide prehospital protocol increases access to stroke thrombolysis in Toronto.

Stroke 2009 Dec 29;40(12):3841-4. Epub 2009 Oct 29.

North and East GTA-Ontario Regional Stroke Centre and Division of Neurology, Department of Medicine, and Brain Sciences Program, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.

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http://stroke.ahajournals.org/content/40/12/3841.full.pdf
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http://stroke.ahajournals.org/cgi/doi/10.1161/STROKEAHA.108.
Publisher Site
http://dx.doi.org/10.1161/STROKEAHA.108.540377DOI Listing
December 2009