Publications Authored by Ajoy Sarkar

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Authors:

Stuart Aitken Helen V Firth Jeremy McRae Mihail Halachev Usha Kini Michael J Parker Melissa M Lees Katherine Lachlan Ajoy Sarkar Shelagh Joss Miranda Splitt Shane McKee Andrea H Németh Richard H Scott Caroline F Wright Joseph A Marsh Matthew E Hurles David R FitzPatrick

Am J Hum Genet 2019 Nov 10;105(5):933-946. Epub 2019 Oct 10.

Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.

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http://dx.doi.org/10.1016/j.ajhg.2019.09.015	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848993	PMC

November 2019

Infection in cirrhosis: A prospective study.

Authors:

Chandramouli Bhattacharya Manisha Das-Mondal Debkishore Gupta Ajoy K Sarkar Sujit Kar-Purkayastha Asokananda Konar

Ann Hepatol 2019 Nov - Dec;18(6):862-868. Epub 2019 Sep 5.

Department of Gastroenterology, Peerless Hospitex Hospital and Research Center, Kolkata, West Bengal, India.

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http://dx.doi.org/10.1016/j.aohep.2019.07.010	DOI Listing

September 2019

Bilateral NAION and GPIbα gene.

Authors:

Christina S Lim Ajoy Sarkar Christopher Knapp

BMC Ophthalmol 2019 Jan 7;19(1). Epub 2019 Jan 7.

Ophthalmology Department, Lincoln County Hospital, Greetwell Road, Lincoln, Lincolnshire, UK.

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http://dx.doi.org/10.1186/s12886-018-1010-0	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322330	PMC

January 2019

In vitro assessment of the broad-spectrum ultraviolet protection of clothing.

Authors:

Ellinor Q Coyne Michael K Lichtman Julie Simons Ajoy K Sarkar Thomas M Rünger

J Am Acad Dermatol 2018 Aug 6;79(2):373-375. Epub 2018 Jan 6.

Department of Dermatology, Boston University Medical Center, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.jaad.2017.12.078	DOI Listing

August 2018

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Am J Hum Genet 2018 08 26;103(2):305-316. Epub 2018 Jul 26.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.003	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080769	PMC

August 2018

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

Authors:

Ceris I Owen Ramsay Bowden Michael J Parker Jo Patterson Joan Patterson Sue Price Ajoy Sarkar Bruce Castle Charulatha Deshpande Miranda Splitt Neeti Ghali John Dean Andrew J Green Charlene Crosby Katrina Tatton-Brown

Am J Med Genet A 2018 05 31;176(5):1108-1114. Epub 2018 Jan 31.

South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.38610	DOI Listing

May 2018

Seeing the diagnosis on karyotype-SOX2 and eye development.

Authors:

Jennifer Mulvihill Ajoy Sarkar Abhijit Dixit

Ophthalmic Genet 2017 12 1;38(6):580-583. Epub 2017 Mar 1.

b Department of Clinical Genetics , City Campus, Nottingham University Hospitals NHS Trust , Nottingham , UK.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2017.1	Publisher Site
http://dx.doi.org/10.1080/13816810.2017.1290119	DOI Listing

December 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:

Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671	PMC

November 2017

Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1.

Authors:

Rosalyn Jewell Ajoy Sarkar Rebecca Jones Ashley Wilkinson Kate Martin Paul Arundel Meena Balasubramanian

Clin Dysmorphol 2017 Oct;26(4):228-230

aYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds bClinical Genetics Service, City Hospital Campus cDepartment of Cytogenetics, Nottingham University Hospitals NHS Trust, Nottingham dDepartment of Paediatric Psychology eHighly Specialised Severe, Complex and Atypical OI Service fSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust gAcademic Unit of Child Health, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000186	DOI Listing

October 2017

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

Epilepsia 2017 04 6;58(4):565-575. Epub 2017 Feb 6.

The Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, United Kingdom.

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http://dx.doi.org/10.1111/epi.13669	DOI Listing

April 2017

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

Hum Mol Genet 2017 02;26(3):519-526

Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.

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http://hmg.oxfordjournals.org/content/early/2017/01/04/hmg.d	Web Search
http://dx.doi.org/10.1093/hmg/ddw409	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409128	PMC

February 2017

A nontoxic case of vitamin D toxicity.

Authors:

Sutirtha Chakraborty Ajoy Krishna Sarkar Chandramouli Bhattacharya Prasad Krishnan Subhosmito Chakraborty

Lab Med 2015 ;46(2):146-9; quiz e31

Department of Biochemistry, Tata Medical Center, Kolkata, India.

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http://dx.doi.org/10.1309/LM5URN1QIR7QBLXK	DOI Listing

July 2016

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Am J Hum Genet 2016 05 21;98(5):981-992. Epub 2016 Apr 21.

MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.018	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863663	PMC

May 2016

Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome.

Authors:

Mark J Hamilton Ajoy Sarkar Abhijit Dixit Elizabeth Marder

Am J Med Genet A 2016 Mar 10;170(3):804-8. Epub 2015 Dec 10.

Department of Community Paediatrics, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK.

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http://dx.doi.org/10.1002/ajmg.a.37497	DOI Listing

March 2016

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Authors:

Sarah Hull Nicholas Owen Farrah Islam Dhani Tracey-White Vincent Plagnol Graham E Holder Michel Michaelides Keren Carss F Lucy Raymond Jean-Michel Rozet Simon C Ramsden Graeme C M Black Isabelle Perrault Ajoy Sarkar Mariya Moosajee Andrew R Webster Gavin Arno Anthony T Moore

Invest Ophthalmol Vis Sci 2016 Mar;57(3):1053-62

University College London Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 12Ophthalmology, University of California, San Francisco, California, United States.

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http://dx.doi.org/10.1167/iovs.15-17976	DOI Listing

March 2016

Arsenic-induced toxicity and carcinogenicity: a two-wave cross-sectional study in arsenicosis individuals in West Bengal, India.

Authors:

Somnath Paul Nandana Das Pritha Bhattacharjee Mayukh Banerjee Jayanta K Das Nilendu Sarma Ajoy Sarkar Apurba K Bandyopadhyay Tanmoy J Sau Santanu Basu Saptarshi Banerjee Papia Majumder Ashok K Giri

J Expo Sci Environ Epidemiol 2013 Mar 19;23(2):156-62. Epub 2012 Sep 19.

Molecular and Human Genetics Division, Indian Institute of Chemical Biology (A Unit of Council of Scientific and Industrial Research, New Delhi), 4 Raja S. C. Mullick Road, Jadavpur, Kolkata, India.

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