Margot van Allen

Margot van Allen

UNVERIFIED PROFILE

Are you Margot van Allen?   Register this Author

Register author
Margot van Allen

Margot van Allen

Publications by authors named "Margot van Allen"

Are you Margot van Allen?   Register this Author

42Publications

1817Reads

14Profile Views

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 Jan 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Renpenning syndrome in a female.

Am J Med Genet A 2019 Dec 16. Epub 2019 Dec 16.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61451DOI Listing
December 2019

Case Series: A Kindred With Eruptive Vellus Hair Cysts and Systemic Features.

J Cutan Med Surg 2017 Nov/Dec;21(6):564-567. Epub 2017 Jun 28.

1 Department of Dermatology and Skin Science, University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1203475417719044DOI Listing
July 2018

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

Pediatr Neurol 2017 Oct 8;75:87-90. Epub 2017 Jun 8.

Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2017.06.003DOI Listing
October 2017

De novo mutation in 2 patients with neonatal-onset epilepsy.

Neurol Genet 2016 Dec 10;2(6):e120. Epub 2016 Nov 10.

Centre for Applied Neurogenetics (CAN), Department of Medical Genetics (I.G., M.B.M., D.M.E., M.J.F.), Division of Neurology (L.H., E.B.T., S.E.B., M.B.C., M.D.), Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, Canada; Department of Neurology (E.M.B.), University of Alabama at Birmingham; HudsonAlpha Institute for Biotechnology (M.L.T., G.M.C.), Huntsville, AL; Department of Medical Genetics (S.A., M.I.V.A.), University of British Columbia, Vancouver, Canada; and Departments of Pathology and Laboratory Medicine (T.N.N.), University of British Columbia and BC Children's Hospital, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113095PMC
December 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1515792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983272PMC
June 2016

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.

Clin Dysmorphol 2016 Apr;25(2):77-81

Departments of aPathology and Laboratory Medicine bMedical Genetics, University of British Columbia cChild and Family Research Institute, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000108DOI Listing
April 2016

Profiling placental and fetal DNA methylation in human neural tube defects.

Epigenetics Chromatin 2016 16;9. Epub 2016 Feb 16.

Child and Family Research Institute, 950 W 28th Ave, Vancouver, BC V5Z 4H4 UK ; Dept of Medical Genetics, University of British Columbia, C201-4500 Oak St, Vancouver, BC V6H 3N1 UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13072-016-0054-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756451PMC
February 2016

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Mol Genet Metab 2016 Jan 17;117(1):42-8. Epub 2015 Nov 17.

Division of Biochemical Diseases, Dept of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada; Center for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.11.008DOI Listing
January 2016

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.

J Hum Genet 2015 Dec 15;60(12):743-7. Epub 2015 Oct 15.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2015.116DOI Listing
December 2015

Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.

Eur J Med Genet 2013 May 14;56(5):229-35. Epub 2013 Feb 14.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.01.013DOI Listing
May 2013

Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension.

Childs Nerv Syst 2011 Dec 5;27(12):2183-6. Epub 2011 Oct 5.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-011-1595-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101181PMC
December 2011

Methylation profiling in individuals with Russell-Silver syndrome.

Am J Med Genet A 2010 Feb;152A(2):347-55

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33204DOI Listing
February 2010

Spina bifida before and after folic acid fortification in Canada.

Birth Defects Res A Clin Mol Teratol 2008 Sep;82(9):622-6

Department of Social and Preventive Medicine, Laval University, Quebec City, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.20485DOI Listing
September 2008

Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.

Am J Med Genet A 2007 Dec;143A(24):2931-6

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31946DOI Listing
December 2007

Brain anomalies in encephalocraniocutaneous lipomatosis.

Am J Med Genet A 2007 Dec;143A(24):2963-72

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32074DOI Listing
December 2007

Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.

Birth Defects Res A Clin Mol Teratol 2005 Nov;73(11):919-23

Department of Medical Genetics, British Columbia's Children and Women's Center, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.20189DOI Listing
November 2005

Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.

Am J Med Genet A 2004 Jan;124A(2):158-64

Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20370DOI Listing
January 2004