Search | VHL CLAP/WR-PAHO/WHO

1.

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

Faundes, Víctor; Newman, William G; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J; Demos, Michelle K; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J; Rankin, Julia; Robertson, Lisa; Temple, I Karen; Banka, Siddharth.

Am J Hum Genet ; 102(1): 175-187, 2018 01 04.

Article in English | MEDLINE | ID: mdl-29276005

2.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

Nisselle, Amy; Janinski, Monika; Martyn, Melissa; McClaren, Belinda; Kaunein, Nadia; Barlow-Stewart, Kristine; Belcher, Andrea; Bernat, John A; Best, Stephanie; Bishop, Michelle; Carroll, June C; Cornel, Martina; Dissanayake, Vajira H W; Dodds, Agnes; Dunlop, Kate; Garg, Gunjan; Gear, Russell; Graves, Debra; Knight, Ken; Korf, Bruce; Kumar, Dhavendra; Laurino, Mercy; Ma, Alan; Maguire, Jane; Mallett, Andrew; McCarthy, Maria; McEwen, Alison; Mulder, Nicola; Patel, Chirag; Quinlan, Catherine; Reed, Kate; Riggs, Erin Rooney; Sinnerbrink, Ingrid; Slavotinek, Anne; Suppiah, Vijayaprakash; Terrill, Bronwyn; Tobias, Edward S; Tonkin, Emma; Trumble, Steve; Wessels, Tina-Marie; Metcalfe, Sylvia; Jordan, Helen; Gaff, Clara.

Genet Med ; 23(7): 1356-1365, 2021 07.

Article in English | MEDLINE | ID: mdl-33824503

3.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Hamilton, Mark J; Caswell, Richard C; Canham, Natalie; Cole, Trevor; Firth, Helen V; Foulds, Nicola; Heimdal, Ketil; Hobson, Emma; Houge, Gunnar; Joss, Shelagh; Kumar, Dhavendra; Lampe, Anne Katrin; Maystadt, Isabelle; McKay, Victoria; Metcalfe, Kay; Newbury-Ecob, Ruth; Park, Soo-Mi; Robert, Leema; Rustad, Cecilie F; Wakeling, Emma; Wilkie, Andrew O M; Study, The Deciphering Developmental Disorders; Twigg, Stephen R F; Suri, Mohnish.

J Med Genet ; 55(1): 28-38, 2018 01.

Article in English | MEDLINE | ID: mdl-29021403

4.

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

Hannan, Fadil M; Howles, Sarah A; Rogers, Angela; Cranston, Treena; Gorvin, Caroline M; Babinsky, Valerie N; Reed, Anita A; Thakker, Clare E; Bockenhauer, Detlef; Brown, Rosalind S; Connell, John M; Cook, Jacqueline; Darzy, Ken; Ehtisham, Sarah; Graham, Una; Hulse, Tony; Hunter, Steven J; Izatt, Louise; Kumar, Dhavendra; McKenna, Malachi J; McKnight, John A; Morrison, Patrick J; Mughal, M Zulf; O'Halloran, Domhnall; Pearce, Simon H; Porteous, Mary E; Rahman, Mushtaqur; Richardson, Tristan; Robinson, Robert; Scheers, Isabelle; Siddique, Haroon; Van't Hoff, William G; Wang, Timothy; Whyte, Michael P; Nesbit, M Andrew; Thakker, Rajesh V.

Hum Mol Genet ; 24(18): 5079-92, 2015 Sep 15.

Article in English | MEDLINE | ID: mdl-26082470

5.

India's COVID-19 emergency: overarching conclusions belie facts.

Kumar, Dhavendra; Mittal, Madhukar.

Lancet ; 397(10293): 2465, 2021 06 26.

Article in English | MEDLINE | ID: mdl-34175083

6.

Indigenous population genome databases for India and South Asia: emerging need for health and social applications.

Kumar, Dhavendra.

J Genet ; 1022023.

Article in English | MEDLINE | ID: mdl-37798871

7.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin, Hilary C; Jones, Wendy D; McIntyre, Rebecca; Sanchez-Andrade, Gabriela; Sanderson, Mark; Stephenson, James D; Jones, Carla P; Handsaker, Juliet; Gallone, Giuseppe; Bruntraeger, Michaela; McRae, Jeremy F; Prigmore, Elena; Short, Patrick; Niemi, Mari; Kaplanis, Joanna; Radford, Elizabeth J; Akawi, Nadia; Balasubramanian, Meena; Dean, John; Horton, Rachel; Hulbert, Alice; Johnson, Diana S; Johnson, Katie; Kumar, Dhavendra; Lynch, Sally Ann; Mehta, Sarju G; Morton, Jenny; Parker, Michael J; Splitt, Miranda; Turnpenny, Peter D; Vasudevan, Pradeep C; Wright, Michael; Bassett, Andrew; Gerety, Sebastian S; Wright, Caroline F; FitzPatrick, David R; Firth, Helen V; Hurles, Matthew E; Barrett, Jeffrey C.

Science ; 362(6419): 1161-1164, 2018 12 07.

Article in English | MEDLINE | ID: mdl-30409806

8.

Preface.

Kumar, Dhavendra.

Adv Genet ; 108: xi-xiv, 2021.

Article in English | MEDLINE | ID: mdl-34844718

9.

Preface.

Kumar, Dhavendra.

Adv Genet ; 107: xi-xii, 2021.

Article in English | MEDLINE | ID: mdl-33641750

10.

Preface.

Kumar, Dhavendra.

Adv Genet ; 105: xi-xii, 2020.

Article in English | MEDLINE | ID: mdl-32560792

11.

Preface: The origin of life and astrobiology.

Kumar, Dhavendra; Steele, Edward J; Wickramasinghe, N Chandra.

Adv Genet ; 106: xv-xviii, 2020.

Article in English | MEDLINE | ID: mdl-33081930

12.

Preface.

Kumar, Dhavendra.

Adv Genet ; 103: ix-xi, 2019.

Article in English | MEDLINE | ID: mdl-30904098

13.

Preface.

Kumar, Dhavendra.

Adv Genet ; 104: ix-x, 2019.

Article in English | MEDLINE | ID: mdl-31200810

14.

The personalised medicine. A paradigm of evidence-based medicine.

Kumar, Dhavendra.

Ann Ist Super Sanita ; 47(1): 31-40, 2011.

Article in English | MEDLINE | ID: mdl-21430336

15.

Disorders of the genome architecture: a review.

Kumar, Dhavendra.

Genomic Med ; 2(3-4): 69-76, 2008 Dec.

Article in English | MEDLINE | ID: mdl-19277903

16.

Introduction to evolutionary genomic approaches to human disease.

Muglia, Louis J; Kumar, Dhavendra.

Appl Transl Genom ; 2: 41, 2013 Dec 01.

Article in English | MEDLINE | ID: mdl-27896053

17.

"Applied and Translational Genomics" - What is new?

Kumar, Dhavendra.

Appl Transl Genom ; 1: 1-2, 2012 Dec 01.

Article in English | MEDLINE | ID: mdl-27896046

18.

From evidence-based medicine to genomic medicine.

Kumar, Dhavendra.

Genomic Med ; 1(3-4): 95-104, 2007.

Article in English | MEDLINE | ID: mdl-18923934

19.

The emergence of 'The HUGO Journal'.

Kumar, Dhavendra; Liu, Edison T.

Hugo J ; 3(1-4): 1-2, 2009 Dec.

Article in English | MEDLINE | ID: mdl-21119754

20.

Genome mirror 2008.

Kumar, Dhavendra.

Genomic Med ; 2(1-2): 51-3, 2008 Jan.

Article in English | MEDLINE | ID: mdl-18716919

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

Config filters

Your selection (0)

Export format:

Export:

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

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

India's COVID-19 emergency: overarching conclusions belie facts.

Indigenous population genome databases for India and South Asia: emerging need for health and social applications.

Quantifying the contribution of recessive coding variation to developmental disorders.

Preface.

Preface.

Preface.

Preface: The origin of life and astrobiology.

Preface.

Preface.

The personalised medicine. A paradigm of evidence-based medicine.

Disorders of the genome architecture: a review.

Introduction to evolutionary genomic approaches to human disease.

"Applied and Translational Genomics" - What is new?

From evidence-based medicine to genomic medicine.

The emergence of 'The HUGO Journal'.

Genome mirror 2008.