Publications by authors named "Eric Haan"

98Publications

CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.

Am J Med Genet A 2020 07 17;182(7):1780-1784. Epub 2020 Apr 17.

Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61601DOI Listing
July 2020

Long QT Syndrome Type 1 in an Australian Indigenous Patient.

Circ Genom Precis Med 2020 04 31;13(2):e002813. Epub 2020 Jan 31.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL (C.G.V., A.L.G.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7416536PMC
April 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 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

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

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.

Am J Med Genet A 2016 11 2;170(11):2960-2964. Epub 2016 Aug 2.

School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37856DOI Listing
November 2016

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.

J Genet Couns 2017 02 21;26(1):159-172. Epub 2016 Jul 21.

South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), 72 King William Road, North Adelaide, SA, 5006, Australia.

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http://dx.doi.org/10.1007/s10897-016-9994-1DOI Listing
February 2017

Age range for inclusion affects ascertainment by birth defects registers.

Birth Defects Res A Clin Mol Teratol 2016 Sep 21;106(9):761-6. Epub 2016 Jun 21.

School of Paediatrics and Reproductive Health, University of Adelaide, Australia.

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http://dx.doi.org/10.1002/bdra.23534DOI Listing
September 2016

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

Heart Rhythm 2016 08 5;13(8):1652-60. Epub 2016 May 5.

Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2016.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5453511PMC
August 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Hum Mol Genet 2015 Sep 29;24(18):5250-9. Epub 2015 Jun 29.

School of Paediatrics and Reproductive Health, School of Molecular and Biomedical Sciences, SA Pathology, Adelaide, Australia, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia,

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http://dx.doi.org/10.1093/hmg/ddv245DOI Listing
September 2015

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Eur J Med Genet 2015 Jun-Jul;58(6-7):364-8. Epub 2015 Apr 28.

Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.04.004DOI Listing
March 2016

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

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http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
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http://dx.doi.org/10.1093/hmg/ddu614DOI Listing
April 2015

Lamin A/C mutation: An easily missed opportunity.

Int J Cardiol 2015 Feb 3;181:48-9. Epub 2014 Dec 3.

Department of Cardiovascular Medicine, Flinders Medical Centre, Australia; School of Medicine, Flinders University, Australia.

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http://dx.doi.org/10.1016/j.ijcard.2014.12.013DOI Listing
February 2015

Phenotypes of AKT3 deletion: a case report and literature review.

Am J Med Genet A 2015 Jan 25;167A(1):174-9. Epub 2014 Nov 25.

Royal Melbourne Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36710DOI Listing
January 2015

Frontotemporal dementia and its subtypes: a genome-wide association study.

Authors:
Raffaele Ferrari Dena G Hernandez Michael A Nalls Jonathan D Rohrer Adaikalavan Ramasamy John B J Kwok Carol Dobson-Stone William S Brooks Peter R Schofield Glenda M Halliday John R Hodges Olivier Piguet Lauren Bartley Elizabeth Thompson Eric Haan Isabel Hernández Agustín Ruiz Mercè Boada Barbara Borroni Alessandro Padovani Carlos Cruchaga Nigel J Cairns Luisa Benussi Giuliano Binetti Roberta Ghidoni Gianluigi Forloni Daniela Galimberti Chiara Fenoglio Maria Serpente Elio Scarpini Jordi Clarimón Alberto Lleó Rafael Blesa Maria Landqvist Waldö Karin Nilsson Christer Nilsson Ian R A Mackenzie Ging-Yuek R Hsiung David M A Mann Jordan Grafman Christopher M Morris Johannes Attems Timothy D Griffiths Ian G McKeith Alan J Thomas P Pietrini Edward D Huey Eric M Wassermann Atik Baborie Evelyn Jaros Michael C Tierney Pau Pastor Cristina Razquin Sara Ortega-Cubero Elena Alonso Robert Perneczky Janine Diehl-Schmid Panagiotis Alexopoulos Alexander Kurz Innocenzo Rainero Elisa Rubino Lorenzo Pinessi Ekaterina Rogaeva Peter St George-Hyslop Giacomina Rossi Fabrizio Tagliavini Giorgio Giaccone James B Rowe Johannes C M Schlachetzki James Uphill John Collinge Simon Mead Adrian Danek Vivianna M Van Deerlin Murray Grossman John Q Trojanowski Julie van der Zee William Deschamps Tim Van Langenhove Marc Cruts Christine Van Broeckhoven Stefano F Cappa Isabelle Le Ber Didier Hannequin Véronique Golfier Martine Vercelletto Alexis Brice Benedetta Nacmias Sandro Sorbi Silvia Bagnoli Irene Piaceri Jørgen E Nielsen Lena E Hjermind Matthias Riemenschneider Manuel Mayhaus Bernd Ibach Gilles Gasparoni Sabrina Pichler Wei Gu Martin N Rossor Nick C Fox Jason D Warren Maria Grazia Spillantini Huw R Morris Patrizia Rizzu Peter Heutink Julie S Snowden Sara Rollinson Anna Richardson Alexander Gerhard Amalia C Bruni Raffaele Maletta Francesca Frangipane Chiara Cupidi Livia Bernardi Maria Anfossi Maura Gallo Maria Elena Conidi Nicoletta Smirne Rosa Rademakers Matt Baker Dennis W Dickson Neill R Graff-Radford Ronald C Petersen David Knopman Keith A Josephs Bradley F Boeve Joseph E Parisi William W Seeley Bruce L Miller Anna M Karydas Howard Rosen John C van Swieten Elise G P Dopper Harro Seelaar Yolande A L Pijnenburg Philip Scheltens Giancarlo Logroscino Rosa Capozzo Valeria Novelli Annibale A Puca Massimo Franceschi Alfredo Postiglione Graziella Milan Paolo Sorrentino Mark Kristiansen Huei-Hsin Chiang Caroline Graff Florence Pasquier Adeline Rollin Vincent Deramecourt Florence Lebert Dimitrios Kapogiannis Luigi Ferrucci Stuart Pickering-Brown Andrew B Singleton John Hardy Parastoo Momeni

Lancet Neurol 2014 Jul;13(7):686-99

Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA.

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http://dx.doi.org/10.1016/S1474-4422(14)70065-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126PMC
July 2014

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

Am J Hum Genet 2014 Mar;94(3):470-8

School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA 5005, Australia; Robinson Institute, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951929PMC
March 2014

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Pathology 2014 Jan;46(1):41-5

1Cytogenetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 2Molecular Genetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 3School of Molecular and Biomedical Sciences, The University of Adelaide 4School of Paediatrics and Reproductive Health, The University of Adelaide 5South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide 6Centre for Disability Health, North East Clinic, Modbury Hospital, Adelaide 7Ashford Medical Centre, Ashford, Adelaide 8Flinders Medical Centre, Bedford Park 9Calvary Hospital, North Adelaide 10Women's and Children's Health Network, North Adelaide 11Parks Community Health Service, Angle Park, South Australia, Australia 12see Acknowledgements for all members.

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http://linkinghub.elsevier.com/retrieve/pii/S003130251630641
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http://dx.doi.org/10.1097/PAT.0000000000000043DOI Listing
January 2014

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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http://dx.doi.org/10.1016/j.ejmg.2013.07.003DOI Listing
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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http://dx.doi.org/10.1038/pr.2013.117DOI Listing
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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http://dx.doi.org/10.1111/jpc.12279DOI Listing
July 2013

Rare copy number variation in cerebral palsy.

Eur J Hum Genet 2014 Jan 22;22(1):40-5. Epub 2013 May 22.

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

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http://dx.doi.org/10.1038/ejhg.2013.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865415PMC
January 2014

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Am J Med Genet B Neuropsychiatr Genet 2013 Jan 26;162B(1):24-35. Epub 2012 Nov 26.

Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.b.32114DOI Listing
January 2013

New mutations and sporadic intellectual disability.

Lancet 2012 Nov 27;380(9854):1630-1. Epub 2012 Sep 27.

School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1016/S0140-6736(12)61603-1DOI Listing
November 2012

Reproductive technologies: the alchemy of life.

Med J Aust 2012 Sep;197(5):259-60

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http://dx.doi.org/10.5694/mja12.10865DOI Listing
September 2012

RPGR mutations might cause reduced orientation of respiratory cilia.

Pediatr Pulmonol 2013 Apr 6;48(4):352-63. Epub 2012 Aug 6.

Department of Molecular and Clinical Genetics, Institute of Human Genetics Polish Academy of Sciences, Poznań, Poland.

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http://dx.doi.org/10.1002/ppul.22632DOI Listing
April 2013

Reproductive technologies and the risk of birth defects.

N Engl J Med 2012 May 5;366(19):1803-13. Epub 2012 May 5.

Robinson Institute, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1056/NEJMoa1008095DOI Listing
May 2012

Cytomegalovirus and Epstein-Barr virus may be associated with some cases of cerebral palsy.

J Matern Fetal Neonatal Med 2012 Oct 23;25(10):2078-81. Epub 2012 Mar 23.

Robinson Institute, The University of Adelaide, Women's and Children's Hospital, Adelaide, SA, Australia.

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http://dx.doi.org/10.3109/14767058.2012.666587DOI Listing
October 2012

Epidemiologic associations with cerebral palsy.

Obstet Gynecol 2011 Sep;118(3):576-82

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

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http://dx.doi.org/10.1097/AOG.0b013e31822ad2dcDOI Listing
September 2011

A new syndrome with craniosynostosis and cleft lip and palate.

J Craniofac Surg 2011 Jan;22(1):122-4

Australian Craniofacial Unit, SA Pathology, Women's and Children's Hospital, Adelaide, SA, Australia.

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http://dx.doi.org/10.1097/SCS.0b013e3181f6f7f5DOI Listing
January 2011

Fetal MBL2 haplotypes combined with viral exposure are associated with adverse pregnancy outcomes.

J Matern Fetal Neonatal Med 2011 Jun 21;24(6):847-54. Epub 2010 Dec 21.

The University of Adelaide, Women’sand Children's Hospital, Adelaide, South Australia.

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http://dx.doi.org/10.3109/14767058.2010.531324DOI Listing
June 2011

The Australian cerebral palsy research study--protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy.

J Paediatr Child Health 2011 Mar 21;47(3):99-110. Epub 2010 Nov 21.

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

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http://dx.doi.org/10.1111/j.1440-1754.2010.01896.xDOI Listing
March 2011

CP or not CP? A review of diagnoses in a cerebral palsy register.

Pediatr Neurol 2010 Mar;42(3):177-80

Department of Paediatric Rehabilitation Medicine, The Women's and Children's Hospital, North Adelaide, SA, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.09.001DOI Listing
March 2010

DNA from buccal swabs suitable for high-throughput SNP multiplex analysis.

J Biomol Tech 2009 Dec;20(5):232-5

The University of Adelaide, Disciplines of Obstetrics and Gynaecology, Women's and Children's Hospital, Adelaide, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777348PMC
December 2009

Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.

J Pediatr 2009 Jul 25;155(1):90-3. Epub 2009 Apr 25.

Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.jpeds.2009.02.023DOI Listing
July 2009

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Upper limb orthoses and assistive technology utilization in children with hemiplegic cerebral palsy recruited from a population register.

Dev Neurorehabil 2009 Apr;12(2):92-9

Paediatric Rehabilitation, Women's and Children's Hospital, North Adelaide, Australia.

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http://dx.doi.org/10.1080/17518420902783223DOI Listing
April 2009

Combining first and second trimester markers for Down syndrome screening: think twice.

Aust N Z J Obstet Gynaecol 2008 Oct;48(5):492-500

Department of Genetic Medicine, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1479-828X.2008.00911.xDOI Listing
October 2008

Motor function in 5-year-old children with cerebral palsy in the South Australian population.

Dev Med Child Neurol 2009 Jul 19;51(7):551-6. Epub 2008 Nov 19.

Paediatric Rehabilitation Department, Children, Youth and Women's Health Service, Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia.

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http://dx.doi.org/10.1111/j.1469-8749.2008.03182.xDOI Listing
July 2009

Folate awareness and the prevalence of neural tube defects in South Australia, 1966-2007.

Med J Aust 2008 Nov;189(10):566-9

SA Health, Government of South Australia, Adelaide, SA, Australia.

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November 2008

Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population.

Hum Genet 2008 Nov 23;124(4):411-6. Epub 2008 Sep 23.

Discipline of Obstetrics and Gynaecology, Women's and Children's Hospital, The University of Adelaide, 1st Floor Queen Victoria Building, 72 King William Road, Adelaide, SA, 5006, Australia.

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http://dx.doi.org/10.1007/s00439-008-0564-yDOI Listing
November 2008

Self-esteem, self-concept, and quality of life in children with hemiplegic cerebral palsy.

J Pediatr 2008 Oct 18;153(4):473-7. Epub 2008 Jul 18.

Flinders University Rehabilitation Studies Unit, University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1016/j.jpeds.2008.05.040DOI Listing
October 2008

Mannose-binding lectin haplotypes may be associated with cerebral palsy only after perinatal viral exposure.

Am J Obstet Gynecol 2008 May;198(5):509.e1-8

Discipline of Obstetrics and Gynecology, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1016/j.ajog.2008.02.027DOI Listing
May 2008

Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome.

Clin Dysmorphol 2008 Apr;17(2):87-90

Department of Ophthalmology and Visual Sciences, Royal Adelaide Hospital, North Terrace, Adelaide, South Australia.

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http://dx.doi.org/10.1097/01.mcd.0000228427.79358.0bDOI Listing
April 2008

Upper-limb botulinum toxin A injection and occupational therapy in children with hemiplegic cerebral palsy identified from a population register: a single-blind, randomized, controlled trial.

Pediatrics 2007 May 23;119(5):e1149-58. Epub 2007 Apr 23.

Flinders University Department of Rehabilitation and Aged Care, Repatriation General Hospital, Daw Park, South Australia, Australia.

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http://dx.doi.org/10.1542/peds.2006-2425DOI Listing
May 2007

Trends in state/population-based Down syndrome screening and invasive prenatal testing with the introduction of first-trimester combined Down syndrome screening, South Australia, 1995-2005.

Am J Obstet Gynecol 2007 Apr;196(4):315.e1-7; discussion 285-6

Department of Perinatal Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia 5006.

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http://dx.doi.org/10.1016/j.ajog.2007.01.037DOI Listing
April 2007

Diagnosis of foetal alcohol syndrome and alcohol use in pregnancy: a survey of paediatricians' knowledge, attitudes and practice.

J Paediatr Child Health 2006 Nov;42(11):698-703

Discipline of Paediatrics and Child Health, University of Sydney, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2006.00954.xDOI Listing
November 2006

Associations between fetal inherited thrombophilia and adverse pregnancy outcomes.

Am J Obstet Gynecol 2006 Apr;194(4):947.e1-10

Department of Obstetrics and Gynaecology, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1016/j.ajog.2006.01.111DOI Listing
April 2006

The association between inherited cytokine polymorphisms and cerebral palsy.

Am J Obstet Gynecol 2006 Mar;194(3):674.e1-11

Department of Obstetrics and Gynaecology, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1016/j.ajog.2006.01.093DOI Listing
March 2006

Neurotropic viruses and cerebral palsy: population based case-control study.

BMJ 2006 Jan 6;332(7533):76-80. Epub 2006 Jan 6.

Department of Obstetrics and Gynaecology, University of Adelaide, Women's and Children's Hospital, 1st Floor Queen Victoria Building, 72 King William Road, Adelaide, SA 5006, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1326927PMC
January 2006

Health professionals' knowledge, practice and opinions about fetal alcohol syndrome and alcohol consumption in pregnancy.

Aust N Z J Public Health 2005 Dec;29(6):558-64

Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, Western Perth.

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http://dx.doi.org/10.1111/j.1467-842x.2005.tb00251.xDOI Listing
December 2005

Associations between inherited thrombophilias, gestational age, and cerebral palsy.

Am J Obstet Gynecol 2005 Oct;193(4):1437

Department of Obstetrics and Gynaecology, The University of Adelaide, Adelaide, South Australia.

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http://dx.doi.org/10.1016/j.ajog.2005.02.107DOI Listing
October 2005

The prevalence of inherited thrombophilias in a Caucasian Australian population.

Pathology 2005 Apr;37(2):160-3

Department of Obstetrics and Gynaecology, The University of Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1080/00313020500058250DOI Listing
April 2005

Maternal diabetes and congenital anomalies in South Australia 1986-2000: a population-based cohort study.

Birth Defects Res A Clin Mol Teratol 2005 Sep;73(9):605-11

South Australian Birth Defects Register, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/bdra.20172DOI Listing
September 2005

Familial Parry-Romberg disease.

Int J Pediatr Otorhinolaryngol 2005 May;69(5):705-8

Australian Craniofacial Unit, Women's and Children's Hospital, SA, Australia.

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http://dx.doi.org/10.1016/j.ijporl.2004.12.004DOI Listing
May 2005

The clinical geneticist and the "new genetics".

Authors:
Eric A Haan

Med J Aust 2003 May;178(9):458-62

SA Clinical Genetics Service, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006.

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May 2003

Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances.

Am J Med Genet A 2003 Feb;117A(1):57-64

Cytogenetics Department, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.10048DOI Listing
February 2003

The risk of mortality or cerebral palsy in twins: a collaborative population-based study.

Pediatr Res 2002 Nov;52(5):671-81

Neuroepidemiology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1203/00006450-200211000-00011DOI Listing
November 2002

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

Am J Med Genet 2002 Feb;107(4):285-93

Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia.

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http://dx.doi.org/10.1002/ajmg.10159DOI Listing
February 2002