Publications by authors named "Alastair MacLennan"

96Publications

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review.

Dev Med Child Neurol 2020 09 15;62(9):1024-1030. Epub 2020 Jun 15.

Discipline of Obstetrics & Gynaecology, University of Adelaide, Adelaide, South Australia, Australia.

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September 2020

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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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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November 2018

A genomic cause of cerebral palsy should not change the clinical classification.

Ann Clin Transl Neurol 2018 Aug 22;5(8):1011. Epub 2018 Jun 22.

For the Australian Collaborative Cerebral Palsy Research Group The Robinson Research Institute The University of Adelaide North Adelaide South Australia Australia.

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August 2018

Teaching midwives to poke with needles on non-existing meridians.

Women Birth 2019 04 18;32(2):e284-e285. Epub 2018 Jun 18.

University Hospital, 80000 Amiens, France. Electronic address:

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April 2019

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

Transl Psychiatry 2018 04 23;8(1):88. Epub 2018 Apr 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.

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April 2018

Cerebral palsy and genomics: an international consortium.

Dev Med Child Neurol 2018 02;60(2):209-210

The Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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February 2018

The genetic basis of cerebral palsy.

Dev Med Child Neurol 2017 05 1;59(5):462-469. Epub 2017 Jan 1.

Departments of Child Health, Neurology and Genetics, University of Arizona, College of Medicine, Phoenix, AZ, USA.

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May 2017

Reply.

Am J Obstet Gynecol 2016 05 29;214(5):671. Epub 2016 Jan 29.

Neurogenetics Research Program, School of Paediatrics and reproductive Health, The University of Adelaide, Adelaide, South Australia.

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May 2016

Cerebral palsy: causes, pathways, and the role of genetic variants.

Am J Obstet Gynecol 2015 Dec 21;213(6):779-88. Epub 2015 May 21.

Neurogenetics Research Program, School of Pediatrics and Reproductive Health, the University of Adelaide, Adelaide, Australia.

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December 2015

Letters to the editor.

Menopause 2015 Mar;22(3):361

The Robinson Research Institute The University of Adelaide North Adelaide, Australia.

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March 2015

Cesarean delivery and cerebral palsy: a systematic review and meta-analysis.

Obstet Gynecol 2013 Dec;122(6):1169-75

Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health, Robinson Institute, University of Adelaide, Adelaide, South Australia, Australia.

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December 2013

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

Eur J Med Genet 2013 Sep 30;56(9):506-9. Epub 2013 Jul 30.

The Robinson Institute, The University of Adelaide, Adelaide, Australia. Electronic address:

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September 2013

Single-nucleotide polymorphism associations with preterm delivery: a case-control replication study and meta-analysis.

Pediatr Res 2013 Oct 8;74(4):433-8. Epub 2013 Jul 8.

Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health, Robinson Institute, University of Adelaide, Adelaide, South Australia, Australia.

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October 2013

Genetic and clinical contributions to cerebral palsy: a multi-variable analysis.

J Paediatr Child Health 2013 Jul 11;49(7):575-81. Epub 2013 Jun 11.

Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health, Robinson Institute, Adelaide, SA 5006, Australia.

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July 2013