Publications by authors named "David Markie"

35Publications

Deletion of Exon 1 in in Osteopathia Striata with Cranial Sclerosis.

Authors:
Jingyi Mi Padmini Parthasarathy Benjamin J Halliday Tim Morgan John Dean Malgorzata J M Nowaczyk David Markie Stephen P Robertson Emma M Wade

Genes (Basel) 2020 Nov 30;11(12). Epub 2020 Nov 30.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.

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November 2020

Correction to: Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects.

Authors:
Riku Takei Murray Cadzow David Markie Matt Bixley Amanda Phipps-Green Tanya J Major Changgui Li Hyon K Choi Zhiqiang Li Hua Hu Hui Guo Meian He Yongyong Shi Lisa K Stamp Nicola Dalbeth Tony R Merriman Wen-Hua Wei

J Hum Genet 2021 Feb;66(2):225

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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February 2021

Wilms tumor in patients with osteopathia striata with cranial sclerosis.

Authors:
Alicia Bach Jingyi Mi Matthew Hunter Benjamin J Halliday Sixto García-Miñaúr Francesca Sperotto Eva Trevisson David Markie Ian M Morison Marwan Shinawi Daniel N Willis Stephen P Robertson

Eur J Hum Genet 2020 Sep 2. Epub 2020 Sep 2.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.

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September 2020

Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects.

Authors:
Riku Takei Murray Cadzow David Markie Matt Bixley Amanda Phipps-Green Tanya J Major Changgui Li Hyon K Choi Zhiqiang Li Hua Hu Hui Guo Meian He Yongyong Shi Lisa K Stamp Nicola Dalbeth Tony R Merriman Wen-Hua Wei

J Hum Genet 2021 Feb 10;66(2):161-169. Epub 2020 Aug 10.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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February 2021

An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.

Authors:
Hui Peng Zandra A Jenkins Ruby White Sam Connors Matthew F Hunter Anne Ronan Andreas Zankl David M Markie Philip B Daniel Stephen P Robertson

J Clin Endocrinol Metab 2020 03;105(3)

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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March 2020

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.

Authors:
Sean G W Driver Meremaihi R Jackson Konrad Richter Paul Tomlinson Ben Brockway Benjamin J Halliday David M Markie Stephen P Robertson Emma M Wade

Eur J Hum Genet 2020 04 2;28(4):445-452. Epub 2019 Dec 2.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.

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April 2020

Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus.

Authors:
Lord J J Gowans Sophia Cameron-Christie Rebecca L Slayton Tamara Busch Miguel Romero-Bustillos Steven Eliason Mason Sweat Nara Sobreira Wenjie Yu Piranit N Kantaputra Elizabeth Wohler Wasiu Lanre Adeyemo Salil A Lachke Deepti Anand Collen Campbell Bernadette K Drummond David M Markie W Jansen van Vuuren L Jansen van Vuuren Paul S Casamassimo Ronald Ettinger Arwa Owais I van Staden Brad A Amendt Adebowale A Adeyemo Jeffrey C Murray Stephen P Robertson Azeez Butali

Front Genet 2019 20;10:800. Epub 2019 Sep 20.

Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa City, IA, United States.

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September 2019

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Authors:
Sophia R Cameron-Christie Constance F Wells Marleen Simon Marja Wessels Candy Z N Tang Wenhua Wei Riku Takei Coranne Aarts-Tesselaar Sarah Sandaradura David O Sillence Marie-Pierre Cordier Hermine E Veenstra-Knol Matteo Cassina Kathrin Ludwig Eva Trevisson Melanie Bahlo David M Markie Zandra A Jenkins Stephen P Robertson

Am J Hum Genet 2019 Sep;105(3):669

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September 2019

Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family.

Authors:
Sophia R Cameron-Christie Justin Wilde Andrew Gray Rick Tankard Melanie Bahlo David Markie Helen M Evans Stephen P Robertson

BMC Med Genomics 2018 Dec 18;11(1):121. Epub 2018 Dec 18.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9054, New Zealand.

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December 2018

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.

Authors:
Adam C O'Neill Christina Kyrousi Johannes Klaus Richard J Leventer Edwin P Kirk Andrew Fry Daniela T Pilz Tim Morgan Zandra A Jenkins Micha Drukker Samuel F Berkovic Ingrid E Scheffer Renzo Guerrini David M Markie Magdalena Götz Silvia Cappello Stephen P Robertson

Cell Rep 2018 12;25(10):2729-2741.e6

Department of Women's and Children's Health, University of Otago, Dunedin, New Zealand. Electronic address:

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December 2018

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour.

Authors:
Benjamin J Halliday Ryuji Fukuzawa David M Markie Richard G Grundy Jackie L Ludgate Michael A Black Jane E Skeen Robert J Weeks Daniel R Catchpoole Aedan G K Roberts Anthony E Reeve Ian M Morison

PLoS Genet 2018 06 18;14(6):e1007399. Epub 2018 Jun 18.

Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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June 2018

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Authors:
Sophia R Cameron-Christie Constance F Wells Marleen Simon Marja Wessels Candy Z N Tang Wenhua Wei Riku Takei Coranne Aarts-Tesselaar Sarah Sandaradura David O Sillence Marie-Pierre Cordier Hermine E Veenstra-Knol Matteo Cassina Kathrin Ludwig Eva Trevisson Melanie Bahlo David M Markie Zandra A Jenkins Stephen P Robertson

Am J Hum Genet 2018 06 24;102(6):1115-1125. Epub 2018 May 24.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand. Electronic address:

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June 2018

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.

Authors:
Adam C O'Neill Christina Kyrousi Melanie Einsiedler Ingo Burtscher Micha Drukker David M Markie Edwin P Kirk Magdalena Götz Stephen P Robertson Silvia Cappello

Front Cell Neurosci 2018 12;12:57. Epub 2018 Mar 12.

Max Planck Institute of Psychiatry, Munich, Germany.

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March 2018

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.

Authors:
Zandra A Jenkins Alison Macharg Cheng-Yee Chang Margriet van Kogelenberg Tim Morgan Sophia Frentz Wenhua Wei Jacek Pilch Mark Hannibal Nicola Foulds George McGillivray Richard J Leventer Sixto García-Miñaúr Stuart Sugito Scott Nightingale David M Markie Tracy Dudding Raj P Kapur Stephen P Robertson

Hum Mutat 2018 01 2;39(1):103-113. Epub 2017 Nov 2.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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January 2018

Mutations in the netrin-1 gene cause congenital mirror movements.

Authors:
Aurélie Méneret Elizabeth A Franz Oriane Trouillard Thomas C Oliver Yvrick Zagar Stephen P Robertson Quentin Welniarz R J MacKinlay Gardner Cécile Gallea Myriam Srour Christel Depienne Christine L Jasoni Caroline Dubacq Florence Riant Jean-Charles Lamy Marie-Pierre Morel Raphael Guérois Jessica Andreani Coralie Fouquet Mohamed Doulazmi Marie Vidailhet Guy A Rouleau Alexis Brice Alain Chédotal Isabelle Dusart Emmanuel Roze David Markie

J Clin Invest 2017 Nov 25;127(11):3923-3936. Epub 2017 Sep 25.

Pathology Department, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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November 2017

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Authors:
Cara M Skraban Constance F Wells Preetha Markose Megan T Cho Addie I Nesbitt P Y Billie Au Amber Begtrup John A Bernat Lynne M Bird Kajia Cao Arjan P M de Brouwer Elizabeth H Denenberg Ganka Douglas Kristin M Gibson Katheryn Grand Alice Goldenberg A Micheil Innes Jane Juusola Marlies Kempers Esther Kinning David M Markie Martina M Owens Katelyn Payne Richard Person Rolph Pfundt Amber Stocco Claire L S Turner Nienke E Verbeek Laurence E Walsh Taylor C Warner Patricia G Wheeler Dagmar Wieczorek Alisha B Wilkens Evelien Zonneveld-Huijssoon Tjitske Kleefstra Stephen P Robertson Avni Santani Koen L I van Gassen Matthew A Deardorff

Am J Hum Genet 2017 Jul;101(1):139-148

Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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July 2017

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Authors:
Silvio Alessandro Di Gioia Samantha Connors Norisada Matsunami Jessica Cannavino Matthew F Rose Nicole M Gilette Pietro Artoni Nara Lygia de Macena Sobreira Wai-Man Chan Bryn D Webb Caroline D Robson Long Cheng Carol Van Ryzin Andres Ramirez-Martinez Payam Mohassel Mark Leppert Mary Beth Scholand Christopher Grunseich Carlos R Ferreira Tyler Hartman Ian M Hayes Tim Morgan David M Markie Michela Fagiolini Amy Swift Peter S Chines Carlos E Speck-Martins Francis S Collins Ethylin Wang Jabs Carsten G Bönnemann Eric N Olson John C Carey Stephen P Robertson Irini Manoli Elizabeth C Engle

Nat Commun 2017 07 6;8:16077. Epub 2017 Jul 6.

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

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July 2017

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Authors:
Emma M Wade Zandra A Jenkins Philip B Daniel Tim Morgan Marie C Addor Lesley C Adés Debora Bertola Axel Bohring Erin Carter Tae-Joon Cho Christa M de Geus Hans-Christoph Duba Elaine Fletcher Kinga Hadzsiev Raoul C M Hennekam Chong A Kim Deborah Krakow Eva Morava Teresa Neuhann David Sillence Andrea Superti-Furga Hermine E Veenstra-Knol Dagmar Wieczorek Louise C Wilson David M Markie Stephen P Robertson

Am J Med Genet A 2017 Jul 12;173(7):1739-1746. Epub 2017 May 12.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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July 2017

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Authors:
Emma M Wade Philip B Daniel Zandra A Jenkins Aideen McInerney-Leo Paul Leo Tim Morgan Marie Claude Addor Lesley C Adès Debora Bertola Axel Bohring Erin Carter Tae-Joon Cho Hans-Christoph Duba Elaine Fletcher Chong A Kim Deborah Krakow Eva Morava Teresa Neuhann Andrea Superti-Furga Irma Veenstra-Knol Dagmar Wieczorek Louise C Wilson Raoul C M Hennekam Andrew J Sutherland-Smith Tim M Strom Andrew O M Wilkie Matthew A Brown Emma L Duncan David M Markie Stephen P Robertson

Am J Hum Genet 2016 08 15;99(2):392-406. Epub 2016 Jul 15.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand. Electronic address:

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August 2016

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.

Authors:
Verity F Oliver Katherine A van Bysterveldt Murray Cadzow Bernhard Steger Vito Romano David Markie Alex W Hewitt David A Mackey Colin E Willoughby Trevor Sherwin Philip S Crosier Charles N McGhee Andrea L Vincent

Ophthalmology 2016 Apr 16;123(4):709-22. Epub 2016 Jan 16.

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand. Electronic address:

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April 2016