Siddharth Banka

Siddharth Banka

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Siddharth Banka

Siddharth Banka

Publications by authors named "Siddharth Banka"

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Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

Am J Med Genet A 2019 Jun 20;179(6):1058-1062. Epub 2019 Mar 20.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.61131DOI Listing
June 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 May 9. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
May 2019

The clinical presentation caused by truncating CHD8 variants.

Clin Genet 2019 Apr 18. Epub 2019 Apr 18.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.

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http://doi.wiley.com/10.1111/cge.13554
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http://dx.doi.org/10.1111/cge.13554DOI Listing
April 2019

A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy.

Am J Med Genet A 2019 Mar 9;179(3):507-511. Epub 2019 Jan 9.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.a.40661
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http://dx.doi.org/10.1002/ajmg.a.40661DOI Listing
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 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.

J Hum Genet 2019 Feb 20;64(2):161-170. Epub 2018 Nov 20.

Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1038/s10038-018-0536-6DOI Listing
February 2019

Kabuki syndrome: international consensus diagnostic criteria.

J Med Genet 2019 Feb 4;56(2):89-95. Epub 2018 Dec 4.

President, the Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2018-105625DOI Listing
February 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:

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

Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome.

Endocrinol Diabetes Metab Case Rep 2018 23;2018. Epub 2018 Aug 23.

Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.

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https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM1
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http://dx.doi.org/10.1530/EDM-18-0085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109209PMC
August 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:

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

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Am J Hum Genet 2017 Sep;101(3):466-477

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

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http://dx.doi.org/10.1016/j.ajhg.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591022PMC
September 2017

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

Eur J Paediatr Neurol 2016 Mar 18;20(2):286-295. Epub 2015 Dec 18.

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

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http://dx.doi.org/10.1016/j.ejpn.2015.11.012DOI Listing
March 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:

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

Response to: 'Mutation in MMP2 gene may result in scleroderma-like skin thickening' by Bader-Meunier et al.

Ann Rheum Dis 2016 Jan 13;75(1):e2. Epub 2015 Oct 13.

Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/annrheumdis-2015-208538DOI Listing
January 2016

Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

Clin Dysmorphol 2015 Oct;24(4):135-9

aDepartment of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland bDepartment of Clinical Genetics, Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester cDepartment of Clinical Genetics, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000092DOI Listing
October 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.

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

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.

Orphanet J Rare Dis 2013 Jun 13;8:84. Epub 2013 Jun 13.

Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1186/1750-1172-8-84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718741PMC
June 2013

Trisomy 18 mosaicism: report of two cases.

World J Pediatr 2013 May 21;9(2):179-81. Epub 2011 Nov 21.

Academic Unit of Medical Genetics, St. Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1007/s12519-011-0280-xDOI Listing
May 2013

G6PC3 mutations cause non-syndromic severe congenital neutropenia.

Mol Genet Metab 2013 Feb 21;108(2):138-41. Epub 2012 Dec 21.

Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, and St Mary's Hospital, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1016/j.ymgme.2012.12.001DOI Listing
February 2013

Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients.

Muscle Nerve 2012 Nov 19;46(5):698-704. Epub 2012 Sep 19.

Division of Cardiovascular Medicine, University of Manchester and Wellcome Trust Clinical Research Facility, Manchester, UK.

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http://dx.doi.org/10.1002/mus.23377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3469745PMC
November 2012

Pernicious anemia - genetic insights.

Autoimmun Rev 2011 Jun 4;10(8):455-9. Epub 2011 Feb 4.

Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1016/j.autrev.2011.01.009DOI Listing
June 2011

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion.

Am J Med Genet A 2011 Jun 13;155A(6):1453-7. Epub 2011 May 13.

Genetic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, UK.

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http://doi.wiley.com/10.1002/ajmg.a.34034
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http://dx.doi.org/10.1002/ajmg.a.34034DOI Listing
June 2011

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

Eur J Hum Genet 2011 Jan 18;19(1):18-22. Epub 2010 Aug 18.

Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2010.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039503PMC
January 2011

Mutations in the G6PC3 gene cause Dursun syndrome.

Am J Med Genet A 2010 Oct;152A(10):2609-11

Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.33615DOI Listing
October 2010

Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemia.

J Pediatr Hematol Oncol 2010 May;32(4):319-22

Academic Unit of Medical Genetics, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1097/MPH.0b013e3181d74719DOI Listing
May 2010

De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability.

Clin Dysmorphol 2010 Apr;19(2):73-5

Academic Unit of Medical Genetics, St. Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328331a6d7DOI Listing
April 2010

Liver cyst caused by the peritoneal catheter of a CSF shunt.

Pediatr Neurosurg 2007 ;43(5):444-5

Department of Neurosurgery, Birmingham Childrens' Hospital, Birmingham, UK.

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http://dx.doi.org/10.1159/000106402DOI Listing
December 2007

Liver cyst caused by the peritoneal catheter of a cerebrospinal fluid shunt.

Pediatr Neurosurg 2007 ;43(4):343-4

Department of Neurosurgery, Birmingham Children's Hospital, Birmingham, England.

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http://dx.doi.org/10.1159/000103320DOI Listing
October 2007

First report of occurrence of choroid plexus papilloma and medulloblastoma in the same patient.

Childs Nerv Syst 2007 May 15;23(5):587-9. Epub 2006 Nov 15.

Department of Neurosurgery, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK.

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http://dx.doi.org/10.1007/s00381-006-0249-6DOI Listing
May 2007