Bronwyn Kerr

Bronwyn Kerr

UNVERIFIED PROFILE

Are you Bronwyn Kerr?   Register this Author

Register author
Bronwyn Kerr

Bronwyn Kerr

Publications by authors named "Bronwyn Kerr"

Are you Bronwyn Kerr?   Register this Author

69Publications

2772Reads

5Profile Views

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Am J Med Genet A 2019 Sep 20;179(9):1725-1744. Epub 2019 Jun 20.

Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61270DOI Listing
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

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Am J Hum Genet 2018 01 21;102(1):175-187. Epub 2017 Dec 21.

Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778085PMC
January 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.

Clin Dysmorphol 2017 Oct;26(4):247-251

aDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark bManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre cSchool of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester dWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00019605-201710000-0001
Publisher Site
http://dx.doi.org/10.1097/MCD.0000000000000169DOI Listing
October 2017

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

J Pediatr Genet 2017 Sep 12;6(3):129-141. Epub 2017 Apr 12.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0037-1601335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548525PMC
September 2017

Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.

Dev Med Child Neurol 2017 05 4;59(5):544-549. Epub 2017 Feb 4.

Division of Neuroscience & Experimental Psychology, Faculty of Biological, Medical & Health Sciences, University of Manchester and Royal Manchester Children's Hospital and Manchester Academic Health Sciences Centre, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.13394DOI Listing
May 2017

Severe constipation in a patient with Myhre syndrome: a case report.

Clin Dysmorphol 2016 Apr;25(2):54-7

aFaculty of Health and Medicine, Lancaster University, Lancaster bManchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000109DOI Listing
April 2016

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Am J Hum Genet 2016 Feb 28;98(2):363-72. Epub 2016 Jan 28.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M13 9WL, UK. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(15)00509-1.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500509
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746363PMC
February 2016

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.

Pediatr Nephrol 2015 Sep 5;30(9):1459-65. Epub 2015 Mar 5.

Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, M13 9PT, Manchester, UK,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-015-3067-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536279PMC
September 2015

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Eur J Med Genet 2015 Sep 20;58(9):455-65. Epub 2015 Jul 20.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.07.003DOI Listing
September 2015

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.

Ann Rheum Dis 2015 Jun 17;74(6):1249-56. Epub 2014 Jan 17.

Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/annrheumdis-2013-204309DOI Listing
June 2015

Prominent Lower-Limb Involvement in a Family with Myoclonus-Dystonia.

Mov Disord Clin Pract 2014 Jun 26;1(2):115-117. Epub 2014 May 26.

Department of Neurology Greater Manchester Neurosciences Center Salford Royal NHS Foundation Trust Salford United Kingdom.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mdc3.12022
Publisher Site
http://dx.doi.org/10.1002/mdc3.12022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183303PMC
June 2014

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

Eur J Med Genet 2013 Feb 5;56(2):108-13. Epub 2012 Dec 5.

Institute of Human Genetics, University Hospital Magdeburg, Leipziger Str. 44, 39120 Magdeburg, Germany.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212120030
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2012.11.001DOI Listing
February 2013

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.

Arch Dis Child 2012 Sep 14;97(9):812-7. Epub 2012 Jul 14.

Clinical Fellow in Clinical Genetics, Central Manchester University Hospitals Foundation Trust, Manchester Academic Health Sciences Centre, Genetic Medicine, St Mary's Hospital, Oxford Rd, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2012-302125DOI Listing
September 2012

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Am J Med Genet A 2012 May 11;158A(5):1102-10. Epub 2012 Apr 11.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495255PMC
May 2012

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.

Arch Dis Child 2010 Sep 6;95(9):724-30. Epub 2010 Apr 6.

University of Manchester, Manchester Academic Health Science Centre, St Mary's Hospital, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/adc.2009.160069DOI Listing
September 2010

Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndrome.

Clin Dysmorphol 2008 Oct;17(4):255-8

Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00019605-200810000-000
Publisher Site
http://dx.doi.org/10.1097/MCD.0b013e328310e07dDOI Listing
October 2008

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.

Am J Med Genet A 2008 May;146A(9):1218-20

Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children's Hospitals University NHS Trust, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32273DOI Listing
May 2008

Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome.

Clin Dysmorphol 2007 Jul;16(3):203-6

Academic Unit of Medical Genetics and Regional Genetic Service, Central Manchester and Manchester University Hospital NHS Trust, Manchester, UK.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00019605-200707000-000
Publisher Site
http://dx.doi.org/10.1097/MCD.0b013e328011f974DOI Listing
July 2007

Cardiomyopathy with renal anomalies in two siblings: a new recessive syndrome?

Clin Dysmorphol 2007 Jan;16(1):51-3

Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Pendlebury, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e328010caa9DOI Listing
January 2007

BRCA1/2 predictive testing: a study of uptake in two centres.

Eur J Hum Genet 2004 Aug;12(8):654-62

Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester M13 0JH, UK.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/5201206
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5201206DOI Listing
August 2004

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.

Am J Med Genet A 2003 Mar;117A(3):245-50

Hunter Genetics, University of Newcastle, PO Box 84, Waratah, New South Wales 2298, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.10005DOI Listing
March 2003

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Nat Genet 2002 Dec 4;32(4):661-5. Epub 2002 Nov 4.

Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006, Australia.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ng1040
Publisher Site
http://dx.doi.org/10.1038/ng1040DOI Listing
December 2002