Andrew O M Wilkie (Zerin Hyder)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 51

Top Venues

Journal of medical genetics

Nature communications

Genes

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Journal of medical genetics 61 (5) (2024)
Sachiko Iseki, Andrew O M Wilkie
Introduction: Professor Gillian Morriss-Kay DSc. Journal of anatomy (2024)
Isaac Scott Walton, Emma McCann, Astrid Weber, Jenny E V Morton, Peter Noons, Louise C Wilson, Rosanna C Ching, Deirdre Cilliers, David Johnson, Julie M Phipps, Deborah J Shears, Gregory P L Thomas, Steven A Wall, Stephen R F Twigg, Andrew O M Wilkie
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis. Journal of anatomy (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG (2024)
Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Journal of medical genetics 61 (5) (2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart L Loeys
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Journal of medical genetics 61 (4) (2024)
Yang Pei, Mélanie Tanguy, Adam Giess, Abhijit Dixit, Louise C Wilson, Richard J Gibbons, Stephen R F Twigg, Greg Elgar, Andrew O M Wilkie
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark. Genes 15 (7) (2024)
Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Journal of medical genetics (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Journal of medical genetics 61 (5) (2024)
Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Journal of medical genetics 61 (5) (2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart L Loeys
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Journal of medical genetics 61 (4) (2024)
Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Journal of medical genetics (2024)
Yang Pei, Mélanie Tanguy, Adam Giess, Abhijit Dixit, Louise C Wilson, Richard J Gibbons, Stephen R F Twigg, Greg Elgar, Andrew O M Wilkie
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark. Genes 15 (7) (2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart L Loeys
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Journal of medical genetics (2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart L Loeys
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Journal of medical genetics 61 (4) (2024)
Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Journal of medical genetics 61 (5) (2024)
Yang Pei, Mélanie Tanguy, Adam Giess, Abhijit Dixit, Louise C Wilson, Richard J Gibbons, Stephen R F Twigg, Greg Elgar, Andrew O M Wilkie
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark. Genes 15 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart L Loeys
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Journal of medical genetics 61 (4) (2024)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Rebecca S Tooze, Eduardo Calpena, Astrid Weber, Louise C Wilson, Stephen R F Twigg, Andrew O M Wilkie
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 14 (3) (2023)
Rebecca S Tooze, Eduardo Calpena, Astrid Weber, Louise C Wilson, Stephen R F Twigg, Andrew O M Wilkie
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 14 (3) (2023)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Amy Rachel Moore, Jing Yu, Yang Pei, Emily W Y Cheng, Ana Lisa Taylor Tavares, Woolf T Walker, N Simon Thomas, Arveen Kamath, Rita Ibitoye, Dragana Josifova, Anna Wilsdon, Alison Ross, Alistair D Calder, Amaka C Offiah, Andrew O M Wilkie, null null, Jenny C Taylor, Alistair T Pagnamenta
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project. Journal of medical genetics (2023)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J Maher, Loïc M Thibaut, Jonathan Williams, Edward M Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A Hurst, Diana Johnson, Wendy D Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M Lees, Harry G Leitch, Jenny E V Morton, Andrea H Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W Davies, Andrew O M Wilkie, Anne Goriely
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Nature communications 14 (1) (2023)
Rebecca S Tooze, Eduardo Calpena, Astrid Weber, Louise C Wilson, Stephen R F Twigg, Andrew O M Wilkie
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 14 (3) (2023)
Johannes Zschocke, Peter H Byers, Andrew O M Wilkie
Mendelian inheritance revisited: dominance and recessiveness in medical genetics. Nature reviews. Genetics (2023)
Johannes Zschocke, Peter H Byers, Andrew O M Wilkie
Gregor Mendel and the concepts of dominance and recessiveness. Nature reviews. Genetics 23 (7) (2022)
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha E Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika L Erwin, Karen W Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna de Geus, Louisa Kalsner, Arthur Sorlin, Ange-Line Bruel, David A Koolen, Melissa K Gabriel, Mari Rossi, David R Fitzpatrick, Andrew O M Wilkie, Eduardo Calpena, David Johnson, Alice Brooks, Marjon van Slegtenhorst, Julie Fleischer, Daniel Groepper, Kristin Lindstrom, A Micheil Innes, Allison Goodwin, Jennifer Humberson, Amanda Noyes, Katherine G Langley, Aida Telegrafi, Amy Blevins, Jessica Hoffman, Maria J Guillen Sacoto, Jane Juusola, Kristin G Monaghan, Sumit Punj, Marleen Simon, Rolph Pfundt, Ype Elgersma, Tjitske Kleefstra
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Human mutation 42 (4) (2021)
Maria J Nabais Sá, Kerry A Miller, Mary McQuaid, Nils Koelling, Andrew O M Wilkie, Hugo Wurtele, Arjan P M de Brouwer, Jorge Oliveira
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis. Journal of medical genetics (2021)
Eduardo Calpena, Maud Wurmser, Simon J McGowan, Rodrigo Atique, Débora R Bertola, Michael L Cunningham, Jonas A Gustafson, David Johnson, Jenny E V Morton, Maria Rita Passos-Bueno, Andrew T Timberlake, Richard P Lifton, Steven A Wall, Stephen R F Twigg, Pascal Maire, Andrew O M Wilkie
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of medical genetics (2021)
Andrew O M Wilkie, Eduardo Calpena, Yang Pei, Rebecca S Tooze, Helen Brittain, Stephen R F Twigg, Deirdre Cilliers, Jenny E V Morton, Emma McCann, Astrid Weber, Louise C Wilson, Andrew G L Douglas, Ruth McGowan, Anna Need, Andrew Bond, Ana Lisa Taylor Tavares, Ellen R A Thomas, null null, Susan L Hill, Zandra C Deans, Freya Boardman-Pretty, Mark Caulfield, Richard H Scott, Andrew O M Wilkie
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis. Genetics in medicine : official journal of the American College of Medical Genetics 23 (12) (2021)
Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, Elise Boudry-Labis, Anne Dieux-Coeslier, Rachel Harrison, Diana Johnson, Katherine Lachlan, Jenny E V Morton, Helen Stewart, Pradeep Vasudevan, null null, Stephen R F Twigg, Andrew O M Wilkie
Dissection of contiguous gene effects for deletions around ERF on chromosome 19. Human mutation 42 (7) (2021)
D'Juan T Farmer, Hana Mlcochova, Yan Zhou, Nils Koelling, Guanlin Wang, Neil Ashley, Helena Bugacov, Hung-Jhen Chen, Riana Parvez, Kuo-Chang Tseng, Amy E Merrill, Robert E Maxson, Andrew O M Wilkie, J Gage Crump, Stephen R F Twigg
The developing mouse coronal suture at single-cell resolution. Nature communications 12 (1) (2021)
Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M A Swagemakers, Nils Koelling, Simon J McGowan, Julie M Phipps, Meena Balasubramanian, Michael L Cunningham, Sofia Douzgou, Wanda Lattanzi, Jenny E V Morton, Deborah Shears, Astrid Weber, Louise C Wilson, Helen Lord, Tracy Lester, David Johnson, Steven A Wall, Stephen R F Twigg, Irene M J Mathijssen, Freya Boardman-Pretty, null null, Simeon A Boyadjiev, Andrew O M Wilkie
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. Genetics in medicine : official journal of the American College of Medical Genetics 22 (9) (2020)
Tobias Schwerd, Freia Krause, Stephen R F Twigg, Dominik Aschenbrenner, Yin-Huai Chen, Uwe Borgmeyer, Miryam Müller, Santiago Manrique, Neele Schumacher, Steven A Wall, Jonathan Jung, Timo Damm, Claus-Christian Glüer, Jürgen Scheller, Stefan Rose-John, Edith Yvonne Jones, Arian Laurence, Andrew O M Wilkie, Dirk Schmidt-Arras, Holm H Uhlig
A variant in IL6ST with a selective IL-11 signaling defect in human and mouse. Bone research 8 (1) (2020)
Tobias Schwerd, Freia Krause, Stephen R F Twigg, Dominik Aschenbrenner, Yin-Huai Chen, Uwe Borgmeyer, Miryam Müller, Santiago Manrique, Neele Schumacher, Steven A Wall, Jonathan Jung, Timo Damm, Claus-Christian Glüer, Jürgen Scheller, Stefan Rose-John, Edith Yvonne Jones, Arian Laurence, Andrew O M Wilkie, Dirk Schmidt-Arras, Holm H Uhlig
A variant in IL6ST with a selective IL-11 signaling defect in human and mouse. Bone research 8 (2020)
Wei Wei, Salih Tuna, Michael J Keogh, Katherine R Smith, Timothy J Aitman, Philip L Beales, David L H Bennett, Daniel P Gale, Maria A K Bitner-Glindzicz, Graeme C Black, Paul Brennan, Perry Mark Elliott, Frances A Flinter, R Andres Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R Maher, Hugh Stephen Markus, Nicholas W Morrell, William G Newman, Irene Roberts, John Andrew Sayer, Kenneth G C Smith, Jenny C Taylor, Hugh C Watkins, Andrew R Webster, Andrew O M Wilkie, Catherine Williamson, null null, null null, Sofie Ashford, Christopher J Penkett, Kathleen E Stirrups, Augusto Rendon, Willem H Ouwehand, John R Bradley, F Lucy Raymond, Mark Caulfield, Ernest Turro, Patrick F Chinnery
Germline selection shapes human mitochondrial DNA diversity. Science (New York, N.Y.) 364 (6442) (2019)
Geoffrey J Maher, Hannah K Ralph, Zhihao Ding, Nils Koelling, Hana Mlcochova, Eleni Giannoulatou, Pawan Dhami, Dirk S Paul, Stefan H Stricker, Stephan Beck, Gilean McVean, Andrew O M Wilkie, Anne Goriely
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes. Genome research 28 (12) (2018)
Deborah L Lloyd, Markus Toegel, Tudor A Fulga, Andrew O M Wilkie
The Drosophila homologue of MEGF8 is essential for early development. Scientific reports 8 (1) (2018)
Eleni Giannoulatou, Geoffrey J Maher, Zhihao Ding, Ad J M Gillis, Lambert C J Dorssers, Alexander Hoischen, Ewa Rajpert-De Meyts, null null, Gilean McVean, Andrew O M Wilkie, Leendert H J Looijenga, Anne Goriely
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline. PloS one 12 (5) (2017)
Andrew O M Wilkie, Anne Goriely
Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders. Prenatal diagnosis 37 (9) (2017)
Tobias Schwerd, Stephen R F Twigg, Dominik Aschenbrenner, Santiago Manrique, Kerry A Miller, Indira B Taylor, Melania Capitani, Simon J McGowan, Elizabeth Sweeney, Astrid Weber, Liye Chen, Paul Bowness, Andrew Riordan, Andrew Cant, Alexandra F Freeman, Joshua D Milner, Steven M Holland, Natalie Frede, Miryam Müller, Dirk Schmidt-Arras, Bodo Grimbacher, Steven A Wall, Edith Yvonne Jones, Andrew O M Wilkie, Hans Holm Uhlig
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. The Journal of experimental medicine 214 (9) (2017)
Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, Isabelle Maystadt, Laura Baker, Valerie Benoit, Alfonso Caro-Llopis, Nicola S Cooper, François-Guillaume Debray, Laurence Faivre, Thatjana Gardeitchik, Bjørn I Haukanes, Gunnar Houge, Emma Kivuva, Francisco Martinez, Sarju G Mehta, Marie-Cécile Nassogne, Nina Powell-Hamilton, Rolph Pfundt, Monica Rosello, Trine Prescott, Pradeep Vasudevan, Barbara van Loon, Christine Verellen-Dumoulin, Alain Verloes, Charlotte von der Lippe, Emma Wakeling, Andrew O M Wilkie, Louise Wilson, Amy Yuen, Ddd Study, Karen J Low, Ruth A Newbury-Ecob
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European journal of human genetics : EJHG 26 (1) (2017)

Andrew O M Wilkie.css-eqlu8i{font-size:small;padding-left:4px;} (Zerin Hyder)

Publication Activity (10 Years)

Top Topics

Top Venues

Andrew O M Wilkie (Zerin Hyder)