Publications by authors named "Benjamin J Halliday"

7Publications

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

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

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

Authors:
Frederike L Harms Padmini Parthasarathy Dennis Zorndt Malik Alawi Sigrid Fuchs Benjamin J Halliday Colina McKeown Hugo Sampaio Natasha Radhakrishnan Suresh K Radhakrishnan Magali Gorce Benjamin Navet Alban Ziegler Rani Sachdev Stephen P Robertson Sheela Nampoothiri Kerstin Kutsche

Hum Mutat 2020 Sep 15;41(9):1645-1661. Epub 2020 Jul 15.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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September 2020

The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.

Authors:
Emma M Wade Benjamin J Halliday Zandra A Jenkins Adam C O'Neill Stephen P Robertson

Hum Mutat 2020 05 11;41(5):865-883. Epub 2020 Mar 11.

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

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May 2020

Expanding the molecular and clinical phenotypes of FUT8-CDG.

Authors:
Bobby G Ng Hassan Dastsooz Mohammad Silawi Parham Habibzadeh Shima B Jahan Mohammad A F Fard Benjamin J Halliday Kimiyo Raymond Maura R Z Ruzhnikov Zahra Tabatabaei Afsaneh Taghipour-Sheshdeh Elise Brimble Stephen P Robertson Mohammad A Faghihi Hudson H Freeze

J Inherit Metab Dis 2020 07 23;43(4):871-879. Epub 2020 Feb 23.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

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July 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

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