Draft:Dhavendra Kumar (geneticist)

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Dhavendra Kumar (Geneticist)

Background

Professor Dhavendra Kumar is an Indian born UK hospital medical practitioner (GMC UK Number 2351409) in clinical genetics and genomics with a special interest in genomic applications in medicine and healthcare.

Dhavendra was born on 19th January 1951 in the city of Moradabad belonging to the Uttar Pradesh, one of the largest states in north India. His parents migrated from Karachi (now in Pakistan) to India in January 1948, following the partition of British India and Independence on 15 August 1947. He grew in the post-independence India in a modest middle class integrated family.

Education

Dhavendra was raised in the cities of Bulandshahar and Moradabad, both in the northern Indian state of Uttar Pradesh. He was educated in Gandhi Montessori School, Bulandshahar and the Government Intermediate College, Moradabad. In 1965, he passed high school with distinction in Science and Mathematics. He selected Biology in the secondary grade with a special interest in life sciences. In 1966, he got highest score in the National Science Talent Search competition instituted by the Government of India. His science essay on Cosmic Rays was selected for the UP State Science Talent Prize.

After passing the Intermediate examination in 1967 with distinction in Biology and Chemistry, he decided to study for the State entrance examination to study Medicine. In August 1968, he joined the King George’s Medical College affiliated to the University of Lucknow, India; one of the most prestigious and the oldest medical schools of India. He graduated (M.B, B.S) in 1973 with two gold medals for best performance in the second and final professional examinations. After three years of junior doctor’s training and passing the postgraduate examination with thesis, in 1977 Dhavendra was conferred the higher degree of Doctor of Medicine (MD) in Pediatrics. He was awarded a gold medal for the best performance in the MD examination.

Career and Research

Following a brief period of practicing as a Consultant Pediatrician, Dhavendra moved to the United Kingdom to pursue a career in a specialist field of Pediatrics. Whilst working as Chief Resident in the Department of Pediatrics, King George’s Medical College, Lucknow, he had developed an interest in genetics. The Council of Scientific and Industrial Research (CSIR) of India had granted a research grant to carry out a cytogenetic study in children with mental retardation.

In June 1979, Dhavendra moved to Britain with the aim of pursuing a career in specialist Pediatrics. He quickly passed the Diploma in Child Health (DCH) examination of the Royal Colleges of Physicians and Surgeons in Ireland. He joined the Child Development team of the Sheffield Children’s Hospital in January 1980. Within six months of his appointment in Sheffield, he took up the part time position of Clinical Assistant in the Sub-Department of Medical Genetics, the University of Sheffield. This was the start of Dhavendra’s long career in Medical Genetics that he pursued throughout his professional life.

Dhavendra spent considerable time with devotion and dedication in the diagnosis and management of a number of diverse and heterogeneous rare and common genetic diseases. His special interest has been developmental malformation syndromes (clinical dysmorphology), inherited metabolic diseases (inborn errors of metabolism), early onset neurological diseases (pediatric neurogenetics), eye genetic diseases (ophthalmic genetics), inherited cancers (cancer genetics), and inherited cardiac conditions (cardiovascular genetics). His work for organizing and delivering the multi-disciplinary inherited cardiovascular conditions service is recognized as a national benchmark throughout NHS in the UK.

In addition to extremely busy clinical duties, Professor Kumar found time to plan and carry out clinically applied research. He wrote a number of clinical and cytogenetic case reports on rare malformation syndromes. Some of these are listed in the ‘London Dysmorphology Database’ (https://www.face2gene.com/lmd-history/), Victor McKusick’s ‘On line Mendelian Inheritance in Man’ (www.OMIM.org) and ‘POSSUM dysmorphology database’ (www.Possum.net.au) as new and eponymous syndromes. Some of these reports led to detailed molecular genetic investigations leading to deciphering and cloning specific genes with pathogenic sequence mutations or variants. His detailed analysis of clinical and genetic heterogeneity in hereditary spincocerebellar ataxia (SCA) led to several further studies with delineation of a number of dominantly and recessively inherited SCA. This work was presented to the University of Sheffield for the award of Master in Medical Science (MMedSci).  Professor Kumar presented his lifetime work on clinical and genetic heterogeneity in human inherited diseases as a thesis to his Alma Mater and was awarded the Doctor of Science Honoris Causa (D.Sc.) 

Theses

  1. MD (Pediatrics) University of Lucknow, India   1977.      “A study of plasma and cerebrospinal fluid electrolytes in certain childhood neurological disorders with special reference to magnesium” 
  2. M Med Sci. (Medical Genetics) University of Sheffield 1987.    “Genetic studies in hereditary cerebellar ataxia and related disorders”
  3. DSc. King George’s Medical University, Lucknow, India, 2015 “Clinical and Genetic Heterogeneity of Human Inherited Disease- Personal Observations and Interpretations”

Books

Professor Kumar has conceived, planned, co-authored and edited a number of gooks on cardiovascular genetics & genomics, genomic and molecular medicine and health genomics.

  1. “Genetic Disorders of the Indian Subcontinent” [Kluwer-Springer Academic, The Netherlands, 2004]. 
  2. “Genomics and Clinical Medicine” [Oxford Univ. Press, 2007]; Oxford Monographs on Medical Genetics.
  3. “Principles and Practice of Clinical Cardiovascular Genetics” (Oxford Univ. Press, 2010); Oxford Monographs in Medical Genetics.
  4. “Oxford Handbook of Inherited Cardiac Disease” (Oxford Univ. Press 2011)
  5. “Genomics and Health in Developing World” (Oxford Univ. Press, 2012); Oxford Monographs in Medical Genetics.
  6. “Genomic and Molecular Medicine”, Morgan and Claypool, USA (2012-2018)

E-book series Editor in Chief with following titles:

  1. Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta   Meena Balasubramanian January 2017Abstract | PDF (2917 KB) | PDF Plus (1153 KB) 
  2. Molecular Genetics of Thalassemia Syndromes   Reena Das, Prashant Sharma August 2016 Abstract | PDF (6210 KB) | PDF Plus (1593 KB) 
  3. Molecular Basis of Developmental Anomalies of the Human Gastrointestinal Tract   Charles Shaw-Smith December 2015 Abstract | PDF (17812 KB) | PDF Plus (4726 KB) 
  4. The Molecular Biology of Neurofibromatosis Type 1   Meena Upadhyaya February 2014 Abstract | PDF (1886 KB) | PDF Plus (816 KB) 
  5. Clinical and Molecular Aspects of Motor Neuron Disease   Johnathan Cooper-Knock, Thomas Jenkins, Pamela J. Shaw September 2013 Abstract | PDF (4370 KB) | PDF Plus (813 KB) 
  6. The Molecular Biology of Chronic Heart Failure   Dhavendra Kumar February 2013 Abstract | PDF (5841 KB) | PDF Plus (1518 KB) 
  7. Clinical and Genetic Aspects of Sudden Cardiac Death in the Practice of Sports Medicine   Lynne Millar, Nabeel Sheikh, Sanjay Sharma June 2012 Abstract | PDF (30425 KB) | PDF Plus (4564 KB) 
  8. Molecular Genetics of Stroke   Yoshiji Yamada March 2012 Abstract | PDF (5978 KB) | PDF Plus (1333 KB) 
  9. “Genomic Medicine- Principles & Practice”, Oxford University Press, NY, 2014; Oxford Monographs on Medical Genetics.
  10. “Medical and Health Genomics”, Elsevier, 2015.
  11. “Genomics and Society”, Elsevier, 2016.
  12. “Cardiovascular Genomics- Principles and Clinical Practice”, Springer Nature, 2018

Journals

  • Founder/Editor in Chief: Genomic Medicine (Springer, 2006-2009), continues as Human Genomics (Bio-Med Central), the official journal for the Human Genome Organization International (HUGO), current serving as Associate Editor.
  • Founder/ Editor in Chief: Applied and Translational Genomics (Elsevier 2010-2014).
  • Founder/ Editor in Chief: Genomic and Molecular Cardiology (GMF-UK, 2015 to Date)
  • Founder/ Editor in Chief: Seminars in Genomic Medicine (GMF-UK, 2016 to Date)
  • Associate Editor: Journal of Genetics (Springer Verlag), 2014-2018.
  • Chief Serial Editor: Advances in Genetics (Elsevier, 2017 to Date)

Awards and Honors

  • Awarded a Gold Medal for the highest percentage of marks at the second professional MBBS examination (1971), which covered the second MBBS professional examination included pharmacology, pathology, forensic medicine, and social and preventive medicine.
  • Awarded a Gold Medal for the first position at the final professional MBBS examination (1973): Final MBBS examination subjects included general medicine, general surgery, ophthalmology and obstetrics and gynaecology.         
  • Awarded a Gold Medal for the best successful candidate for M.D. in Paediatrics, University of Lucknow, India. December 1977.
  • Honoris Causa Doctor of Science for lifetime achievements in Medicine and Bio-Medical Sciences, King George’s Medical University, Lucknow, India.
  • BMA Medical Book Award 2017-‘Highly Commended’ for ‘Medical and Health Genomics’ (Elsevier)
  • Awarded ‘Hind Rattan (Jewel of India)’ January 2018, Global Non-Residents Indians Conference, Bangkok, Thailand.

Academic appointments

  • Honorary Senior Research Fellow, Institute of Medical Genetics, Cardiff University School of Medicine, Cardiff, UK; 2009 to Date.
  • Visiting Professor, The Genomic Policy Unit, The University of South Wales, UK; 2009 to Contd.
  • Visiting Professor, Education & Research, Chettinad Health University, Chennai, India; 2011 to 2016.
  • Adjunct Professor, Public Health/ Medical Genetics, China Capital Medical University, Beijing, China; 2010- to Date
  • Visiting Professor, Ranbaxy Science Foundation, India; January- February 2013
  • Distinguished Academic Visitor, 10-12 December 2015, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
  • Visiting Fellow, William Harvey Research Centre, Queen Mary University of London, UK, 15 January 2016 to 30 March 2016.
  • Adjunct Professor, Kasturba Gandhi Medical College, Manipal University, Manipal, Karnataka, India; March 2017 to Date.
  • External examiner for higher postgraduate degree thesis: Cardiff. University; Queen’s University Belfast; All India Institute of Medical Sciences, New Delhi, India; Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India; The University of Cape Town, South Africa.
  • External reviewer for Research grants: Medical Research Council (UK); Wellcome Trust (UK); European Rare Disease Research; The Netherlands Vici Research Fund, Amsterdam; the Belgian Research Council, Brussels and the Heart Research (UK).
  • External assessor for Higher Faculty (Chair) appointments: The University College London, UK; King’s College, London, UK; The University of Leicester, UK; The University of Jordan, Amman.
  • Peer Review/ External referee to accredited Journals: Journal of Medical Genetics; American Journal of Medical Genetics; European Journal of Medical Genetics; Human Genetics; Journal of Life and Society; Journal of Translational Medicine and Journal of Genetics.
  • Invited Lectures and Keynote addresses at a number of professional and scientific conferences and academic institutions in several countries.

Global projects

  • Genomic Medicine Foundation (UK)- Founder Medical Director and CEO (www.genomicmedicine.org)
  • Global Consortium for Genomic Education (GC4GE) in collaboration with the Global Genomic Medicine Collaborative (G2MC), Genomic Alliance for Global Health (GA4GH) and Human Genome Organization International (HUGO)- Founder and Chair.
  • Global Familial Heart Challenge (GFHC) in collaboration with the Human Variome Project (HVP)- Founder and global leader.
  • UK India Genomic Medicine Alliance (UKIGMA) incorporating the Indo-UK Genetic Education Forum (IUKGEF)- Founder and Chair

Media

  • You Tube recordings: https://www.youtube.com/results?search_query=dhavendra+kuma r+genetics
  • Key note address on ‘AUTISM in the Developing World’ at the ‘International Conference on Care for Autism’ held on 5 June 2013 in Jerusalem, Israel organized by the International Center for Autism Research and Education.
  • TV Interview on ‘Genomic and Precision Medicine’ at the International Clinical Trials Day, 20 May 2016, Prague, Czech Republic organized by the European Centre for Research Infrastructure (ECRIN).

References[edit]

  1. Gray R G F, Kumar D, Whitfield A E, Glycogen Phosphorylase b Kinase deficiency in three siblings. J. Inherited Metabolic Disease 1983, 6, 107.
  2. Kumar D, Curtis D, and Blank C E, Grebe Chondrodysplasia and Brachydactyly in a family. Clinical Genetics 1984, 25(1), 68-72
  3. Blank C E, Kumar D, Johnson M. Multivitamins and prevention of Neural Tube Defects: A need for detailed counselling. Lancet 1984, February 4, 291
  4. Kumar D Genetics of Indian Childhood Cirrhosis. Tropical and Geographic Medicine 1984, 36, 313-316
  5. Barnes ICS, Kumar D, Bell R J M. A child with recombinant of chromosome 8 inherited from her carrier mother. Journal Medical Genetics, 1985, 22(1), 67-70
  6. Gray RGF and Kumar D. Mitochondrial Malic enzyme in Friedreich’s Ataxia –Failure to demonstrate reduced activity in cultured fibroblasts. J.NeurNeurosurgPsych.Jan1985, 48(1),70-74.
  7. Kumar D, Blank C E, Griffiths B L. Cornelia de Lange syndrome in several members of the same family. Journal Med Genet 1985, 22:296-300
  8. Kumar D, Blank C E, Gelsthorpe K. Hereditary Cerebellar Ataxia and Genetic Linkage with HLA. Human Genetics 1986, 72: 327-332
  9. Kumar D and Blank C E. Hereditary Spinocerebellar Ataxia and genetic linkage with HLA. Journal Medical Genetics, 1984, 21, 301
  10. Kumar D, Clark J W, Blank C E, Patton M A. A family with Craniofrontonasal dysplasia and fragile site 12q13 segregating independently. Clin Genetics, 1986, 29(6): 530-537
  11. Kumar D, Levick R K. Autosomal dominant onychodystrophy and anonychia and brachydactyly type ‘B’ with ectrodactyly. Clin Genetics, 1986, 30: 219-225.
  12. Kumar D, Heath P R and Blank C E. Clinical manifestations of trisomy 5q J.Medical Genetics, 1987, 24(3): 180-184
  13. Kumar D, Papiha S S, Gelsthorpe K. Cell mediated immunological status and association of genetic markers in Hereditary Cerebellar Ataxia. Disease Markers 1987, 5: 31-41
  14. Kumar D. Genetic aspects of congenital cerebellar ataxia: Ind. J. Pediatrics 1986, 53: 761-773
  15. Kumar D, Timperley W R. Neurilemmomatosis and Neurifibromatosis Syndrome Ind. Journal Pediatrics 1985, 52:523-526
  16. Kumar D, Timperley W. Late onset sporadic Cerebellar Ataxia: The clinical, genetic and pathological aspects of some observations on a series of ten patients. Acta Neurol. Scand. 1988 77:181-186.
  17. Hurst J, Mankiewicz M, Kumar D, Winter R M. Hirschsprung’s disease,microcephaly and Iris coloboma. A new syndrome of defective neuronal migration Journal Med. Genetics, 1988,25: 494-500.
  18. Kumar D Syndrome of the Month: Moebius syndrome J.Med Genet 1990, 27:122-126
  19. Nour S, Kumar D, Dickson J A. Anorectal malformations with sacral bony abnormalities. Archives of Disease in Childhood, 1989, 64: 1618-1620
  20. Kumar D Late onset Spinocerebellar Ataxia of possible X-linked recessive inheritance Brain dysfunction, 1989,2(5): 268-272
  21. Kumar D, Blank C E. Early onset Spinocerebellar Ataxia with retained tendon reflexes: an autosomal recessive disease distinct from Friedreich’s Ataxia. Indian Pediatrics, 989, 26: 1014-1019
  22. Priestley L, Kumar D, Sykes B Amplification of COL2A1variable region used for segregation analysis in a family with the Stickler syndrome Hum Genet, 1990,85: 525-526
  23. Kumar D, Mueller RF, Duggan MB, Brocklebank T. Familial aplasia/ hypoplasia of pelvis, femur, and ulna with abnormal digits in an inbred Muslim family: an example of autosomal recessive disorder with overlapping features of syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild. Am. J.Medical Genetics 1997; 70:107-113
  24. Kumar D, Garcia-Minaur S, Quarrell OWJ, Landa G and Garazar C. A distinct syndrome of familial cleft lip and palate with prominent eyes and characteristic facies in two unrelated families. Clinical Dysmorphology, 1996;5:295-301.
  25. Kumar D, Moss G, Primhak R, Coombs R: Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of the angiotensin-1 converting enzyme [ACE] inhibitors J Med Genet 1997;34:541-545
  26. Kumar D, Masel J A new multiple malformation syndrome of Mullerian Dysgenesis, facial hypoplasia, bilateral limb deformity brachydactyly, spinal stenosis and scoliosis. Clinical Genetics July 1997; 52: 30-36.
  27. Kumar D, Rittey C, Cameron A, Variend S: A recognizable inherited syndrome of progressive central nervous system degeneration and intra cranial calcification with over lapping features of Aicardi-Goutieres syndrome. Am J Medical Genetics 1998;75:508-515.
  28. Kumar D, Primhak, R, Kumar, A: Variable phenotype in Kaufman-McKusick syndrome: Report of Inbred Muslim Family and Review of Literature. Clinical Dysmorphology 1998;7:163-170.
  29. Kumar D: A case of lateral facial clefts with Fallot’s tetralogy, duodenal stenosis and intestinal malrotation- a new multiple congenital anomaly syndrome? Clinical Dysmorphology 1999; 8(1): 19-22.
  30. William Reardon, Anne Smith, John W Honour, Peter Hindmarsh, Debipriya Das, GillRumsby, Isabelle Nelson, Sue Malcom, Lesley Ades, David Sillence, Dhavendra Kumar,Celia DeLozier-Blanchet, Shane McKee, Thaddeus Kelly, Wallace L McKeehan, Michael Baraitser, Robin M Winter: Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet 2000, 37(1):26-32.
  31. Bhola RM, Horne GV, Squirrell DM, Chan TK, Kumar D: Autosomal dominant congenital superior oblique palsy. Eye 2001, 15: 479-484
  32. Slovtinek AM, Searby C, A;l-Gazali L, Hennekam RC, Schrander Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Canani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG: Mutation analysis of the MKKS gene in Mckusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Human Genetics, 2002, 110(6):561-7.
  33. Manir Ali, Lorna J Highet, Didier Lacombe, Cyril Goizet, Mary D King, Uta Tacke, Marjo S van der Knaap, Lieven Lagae, Chris Rittey, Han G Brunner, Hans von Bokhoven, Ben Hamel, Yvette A Oade, A Sanchis, I Desguerre, D Cau, N Mathieu, M L Moutard, Pierre Lebon, D. Kumar, Andrew P Jackson, and Yanick Joseph Crow. A second locus for Aicardi-Goutiéres syndrome at chromosome 13q14-21. J Med Genet (Published Online First: 20 May 2005.) 2006, 43(5):444-450.
  34. Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet. 2006 79(2):402-8.
  35. Dhavendra Kumar. Genomic medicine: a new frontier of medicine in the twenty first century. Genomic Med. 2007; 1:3-7.
  36. Dhavendra Kumar. Genome Mirror-2006: 1) The human variome project 2) The Nobel worthiness of RNA interference 3) Metabolomics and beyond. Genomic Med. 2007; 1:87-90.
  37. Dhavendra Kumar. From evidence based medicine to genomic medicine. Genomic Med. Published on-line doi. 10.1007/s11568-007-9013-6; Genomic Med. 2007;1: 95-104; doi 10.1007/s11568-007-9013-6;
  38. Dhavendra Kumar. Genome Mirror 2007: 1) The future of genomic medicine- satellite symposium at the American Society of Human Genetics, 22 October 2007, San Diego, USA; 2) Rapid commercialization of the personalized medicine- a slippery slope- commentary on mini-symposium ‘Navigenics and the era of personalized medicine- the science, policy and ethics of personalized medicine’. Genomic Med. 2007; 1:147-148.
  39. Dhavendra Kumar. Genome Mirror 2008: 1. Recent molecular advances in essential hypertension- Alcohol and risk for hypertension & a possible genome-based vaccine for hypertension; 2) Personalized medicine: the emerging paradigm of warfarin. Genomic Med. 2008; 2:51-53.
  40. Dhavendra Kumar. The personalised medicine- a paradigm of evidence-based medicine. Annali dell’Instituto Superiore di Sanita 2011; 47(1): 31-40.
  41. Dhavendra Kumar. Applied and translational genomics- what is new? Applied and Translational Genomics 2012; 1:1-2.
  42. Dhavendra Kumar (2013)The molecular biology of chronic heart failure . Colloquium series on Genomic & Molecular Medicine, Morgan & Claypool Life Sciences, DOI:10.4199/C00071ED1V01Y201212GMM0 03, pp1-80.
  43. Louis J. Muglia, Special Edition Editor⁎ and Dhavendra Kumar, Editor-in-Chief. Introduction to evolutionary genomic approaches to human disease☆ Appl Transl Genom. 2013 Dec 1; 2: 41; Published online 2013 Oct 21. doi: 10.1016/j.atg.2013.10.003; PMC 5121262
  44. Dhavendra Kumar. Genetic and genomic perspectives of obesity and diabetes mellitus:Implications for clinical medicine and public health. In 'Gains of Genomic Research in Biology and Medicine', Eds. N.Mehra & R.Jalali, Ranbaxy Science Foundation, New Delhi.2014. pp3-53.
  45. Dhavendra Kumar. Harnessing genomics for the developing world. In 'Gains of Genomic Research in Biology and Medicine', Eds. N.Mehra & R. Jalali, Ranbaxy Science Foundation, New Delhi.2014. pp215-228.;
  46. Dhavendra Kumar. ‘GENOMIC MEDICINE’- Prospects, Promises and Expectations- Inaugural editorial. CurrTrendGenomicMed 2015;1:2.
  47. Dhavendra Kumar. ‘Applied and translational genetic and genomic practice of the cardiovascular medicine and surgery’- Inaugural Editorial. CardiovascularGeneticsGenomics 2015;1:1-3.
  48. Jeremy F McRae,……..Dhavendra Kumar, …….. Matthew E Hurles et al: Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation - The Deciphering Developmental Disorders Study . bioRxiv 049056; doi: https://doi.org/10.1101/049056
  49. Fadil M. Hannan Sarah A. Howles Dhavendra Kumar …..Rajesh V. Thakker. Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects; Human Molecular Genetics, Volume 24, Issue 18, 15 September 2015, Pages 5079–5092; https://doi.org/10.1093/hmg/ddv226
  50. Mark J Hamilton, Richard Caswell, Natalie Canham, .......Dhavendra Kumar, et al. The Deciphering Developmental Disorders Study, Mohnish Suri. "Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability"(Journal of Medical Genetics. https://creativecommons.org/licenses/by/4.0/ https://dx.doi.org/10.1136/jmedgenet-2017-104620
  51. Prevalence and architecture of de novo mutations in developmental disorders. Deciphering Developmental Disorders Study: Jeremy F. McRae…….., Dhavendra Kumar & Matthew E. Hurles; Nature volume542, pages433–438 (23 February 2017); doi:10.1038/nature21062
  52. Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation. JeremyF McRae, Stephen Clayton, …….. Dhavendra Kumar, …… Matthew E Hurles. doi: https://doi.org/10.1101/049056
  53. Quantifying the contribution of recessive coding variation to developmental disorders. Hilary C. Martin, Wendy D. Jones, …….. Dhavendra Kumar, … Jeffrey C. Barrett. bioRxiv (2017) Key: citeulike:14481973
  54. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. VíctorFaundes……………12DhavendraKumar7…SiddharthBanka13 https://doi.org/10.1016/j.ajhg.2017.11.013
  55. Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles. Hilary C. Martin, Wendy D. Jones, ………. Dhavendra Kumar, Jeffrey C. Barrett. doi: https://doi.org/10.1101/201533