Publications by authors named "Stephen P Robertson"

100Publications

Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.

Am J Med Genet A 2020 Dec 29. Epub 2020 Dec 29.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

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December 2020

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

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

Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.

J Mol Med (Berl) 2020 Nov 22;98(11):1639-1656. Epub 2020 Sep 22.

Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, USA.

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November 2020

Wilms tumor in patients with osteopathia striata with cranial sclerosis.

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

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

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

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

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.

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

Cantu syndrome and hypopituitarism: implications for endocrine monitoring.

Endocrinol Diabetes Metab Case Rep 2019 Nov 12;2019. Epub 2019 Nov 12.

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

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November 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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September 2019

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

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

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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June 2019

Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy overexpression.

Bone Rep 2018 Dec 21;9:27-36. Epub 2018 Jun 21.

Division of Pathology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, SE-14152 Huddinge, Sweden.

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December 2018

The filamin-B-refilin axis - spatiotemporal regulators of the actin-cytoskeleton in development and disease.

J Cell Sci 2018 04 13;131(8). Epub 2018 Apr 13.

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

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April 2018

A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.

Am J Med Genet A 2018 04;176(4):980-984

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

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April 2018

Ethnic Disparity in the Incidence and Outcome of Biliary Atresia in New Zealand.

J Pediatr Gastroenterol Nutr 2018 02;66(2):218-221

Department of Paediatric Surgery, Starship Child Health, Auckland, New Zealand.

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February 2018

Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A.

J Biol Chem 2017 05 27;292(20):8390-8400. Epub 2017 Mar 27.

From the Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195 and

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May 2017

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.

Am J Med Genet A 2016 10 13;170(10):2706-10. Epub 2016 Jul 13.

Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.

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October 2016

Identification and Successful Negotiation of a Metabolic Checkpoint in Direct Neuronal Reprogramming.

Cell Stem Cell 2016 Mar 31;18(3):396-409. Epub 2015 Dec 31.

Physiological Genomics, Biomedical Center Ludwig-Maximilians-University Munich, 80336 Munich, Germany; Institute for Stem Cell Research, Helmholtz Center Munich, 85764 Neuherberg, Germany; Excellence Cluster of Systems Neurology (SYNERGY), 80336 Munich, Germany. Electronic address:

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March 2016

Telomere length and periodontal attachment loss: a prospective cohort study.

J Clin Periodontol 2016 Feb 19;43(2):121-7. Epub 2016 Feb 19.

Dunedin Multidisciplinary Health and Development Research Unit, Department of Psychology, University of Otago, Dunedin, New Zealand.

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February 2016

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Am J Med Genet A 2015 Jun 21;167(6):1215-22. Epub 2015 Apr 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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June 2015

Association of mutations in FLNA with craniosynostosis.

Eur J Hum Genet 2015 Dec 15;23(12):1684-8. Epub 2015 Apr 15.

Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.

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December 2015

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.

Am J Med Genet A 2015 May 28;167A(5):1161-4. Epub 2015 Mar 28.

Faculdade de Medicina da Universidade de São Paulo, Unidade de Genética do Instituto da Criança, São Paulo, Brazil.

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May 2015

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Am J Hum Genet 2015 Apr 26;96(4):623-30. Epub 2015 Mar 26.

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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April 2015

Arterial tortuosity in patients with Filamin A- associated vascular aneurysms.

Am J Med Genet A 2014 Nov 14;164A(11):2961-3. Epub 2014 Aug 14.

Medical Genetics Institute, Rabin Medical Center, Petach-Tikva, Israel.

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November 2014

An osteosclerotic form of Robinow syndrome.

Am J Med Genet A 2014 Oct 14;164A(10):2638-42. Epub 2014 Jul 14.

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

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October 2014

A new acro-osteolysis syndrome caused by duplications including PTHLH.

J Hum Genet 2014 Sep 10;59(9):484-7. Epub 2014 Jul 10.

Department of Genetics, The Hospital for Sick Children, London, UK.

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September 2014

A turner syndrome patient carrying a mosaic distal x chromosome marker.

Case Rep Genet 2014 17;2014:597314. Epub 2014 Mar 17.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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April 2014

Neuropsychiatric disease in patients with periventricular heterotopia.

J Neuropsychiatry Clin Neurosci 2013 ;25(1):26-31

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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September 2013

Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion.

Am J Med Genet A 2013 Mar 7;161A(3):594-9. Epub 2013 Feb 7.

Division of Plastic and Reconstructive Surgery, Department of Surgery, Montefiore Medical Center, Bronx, NY 10467, USA.

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March 2013

Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.

Am J Med Genet A 2012 Aug 27;158A(8):1897-901. Epub 2012 Jun 27.

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.

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August 2012

Resolving the impasse on predictive genetic testing in minors: will more evidence be the solution?

J Med Ethics 2012 Sep 19;38(9):525-6; discussion 533-4. Epub 2012 Apr 19.

Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand.

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September 2012

TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

J Recept Signal Transduct Res 2012 Jun 14;32(3):150-5. Epub 2012 Mar 14.

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

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June 2012

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.

Am J Med Genet A 2011 Dec 3;155A(12):3144-7. Epub 2011 Nov 3.

Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.

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December 2011

WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.

J Med Genet 2010 Nov 2;47(11):791-4. Epub 2010 Aug 2.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, PO Box 913 Dunedin, New Zealand.

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November 2010

Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.

Hum Mol Genet 2009 Dec 22;18(24):4791-800. Epub 2009 Sep 22.

Institute of Molecular BioSciences, Massey University, Palmerston North, New Zealand.

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December 2009

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.

Neuromuscul Disord 2009 Jul 23;19(7):485-8. Epub 2009 Jun 23.

Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan.

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July 2009

Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms.

Hum Genet 2009 Oct 12;126(4):559-65. Epub 2009 Jun 12.

Dunedin Multidisciplinary Health and Development Research Unit, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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October 2009

Longitudinal studies of gene-environment interaction in common diseases--good value for money?

Novartis Found Symp 2008 ;293:128-37; discussion 138-42, 181-3

Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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December 2008

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

Eur J Hum Genet 2008 Oct 14;16(10):1176-86. Epub 2008 May 14.

Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand.

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October 2008

Characterizing the oculoauriculofrontonasal syndrome.

Clin Dysmorphol 2008 Apr;17(2):79-85

Genetic Health Queensland, Royal Children's Hospital, University of Queensland, Brisbane, Queensland, Australia.

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April 2008

Maternal psychological reaction to newborn genetic screening for type 1 diabetes.

Pediatrics 2007 Aug 3;120(2):e324-35. Epub 2007 Jul 3.

Department of Women's and Children's Health, Otago Medical School, University of Otago, PO Box 913, Dunedin, New Zealand.

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August 2007

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.

Eur J Hum Genet 2007 Jan 23;15(1):3-9. Epub 2006 Aug 23.

Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.

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January 2007