M Williams - Mater Research Institute, The University of Queensland

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论文共 19 篇作者统计合作学者相似作者

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Standardized Practices for RNA Diagnostics Using Clinically Accessible Specimens Reclassifies 75% of Putative Splicing Variants

Adam M. Bournazos,Lisa G. Riley,Shobhana Bommireddipalli,Lesley Ades,Lauren S. Akesson,Mohammad Al-Shinnag,Stephen Alexander,Alison D. Archibald,Shanti Balasubramaniam,Yemima Berman,Victoria Beshay,Kirsten Boggs,Jasmina Bojadzieva,Natasha J. Brown,Samantha J. Bryen,Michael F. Buckley,Belinda Chong,Mark R. Davis,Ruebena Dawes,Martin Delatycki,Liz Donaldson,Lilian Downie,Caitlin Edwards,Matthew Edwards, Amanda Engel,Lisa J. Ewans,Fathimath Faiz,Andrew Fennell,Michael Field,Mary-Louise Freckmann,Lyndon Gallacher,Russell Gear,Himanshu Goel,Shuxiang Goh,Linda Goodwin,Bernadette Hanna,James Harraway,Megan Higgins,Gladys Ho,Bruce K. Hopper,Ari E. Horton,Matthew F. Hunter,Aamira J. Huq,Sarah Josephi-Taylor,Himanshu Joshi,Edwin Kirk,Emma Krzesinski,Kishore R. Kumar,Frances Lemckert,Richard J. Leventer,Suzanna E. Lindsey-Temple,Sebastian Lunke,Alan Ma, Steven Macaskill,Amali Mallawaarachchi,Melanie Marty,Justine E. Marum,Hugh J. McCarthy,Manoj P. Menezes,Alison McLean,Di Milnes,Shekeeb Mohammad,David Mowat,Aram Niaz,Elizabeth E. Palmer,Chirag Patel,Shilpan G. Patel,Dean Phelan,Jason R. Pinner,Sulekha Rajagopalan,Matthew Regan,Jonathan Rodgers,Miriam Rodrigues,Richard H. Roxburgh,Rani Sachdev,Tony Roscioli, Ruvishani Samarasekera,Sarah A. Sandaradura,Elena Savva,Tim Schindler,Margit Shah,Ingrid B. Sinnerbrink,Janine M. Smith,Richard J. Smith,Amanda Springer,Zornitza Stark,Samuel P. Strom,Carolyn M. Sue,Kenneth Tan,Tiong Y. Tan,Esther Tantsis,Michel C. Tchan,Bryony A. Thompson,Alison H. Trainer,Karin Van Spaendonck-Zwarts,Rebecca Walsh,Linda Warwick,Stephanie White,Susan M. White,Mark G. Williams,Meredith J. Wilson, Wui Kwan Wong,Dale C. Wright,Patrick Yap,Alison Yeung,Helen Young,Kristi J. Jones,Bruce Bennetts,Sandra T. Cooper

Genetics in medicineno. 1 (2022): 130-145

引用40浏览0WOS引用

Loss of Nuclear UBE3A Activity is the Predominant Cause of Angelman Syndrome in Individuals Carrying UBE3A Missense Mutations

Stijn N. Bossuyt,A. Mattijs Punt,Ilona J. de Graaf,Janny van den Burg,Mark G. Williams,Helen Heussler,Ype Elgersma,Ben Distel

Human molecular genetics online/Human molecular genetics（2021）

引用12浏览0WOS引用

Caregivers Report on the Pathway to a Formal Diagnosis of Angelman Syndrome: A Comparison Across Genetic Etiologies Within the Global Angelman Syndrome Registry

University of Newcastle, Queensland University of Technology,Williams Mark G.,Cross Meagan,Simons Chloe, Children’s Health Queensland

Advances in neurodevelopmental disorders（2021）

引用2浏览0引用

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019)

Joanna Kennedy,David Goudie,Edward Blair,Kate Chandler,Shelagh Joss,Victoria McKay, Andrew Green,Ruth Armstrong,Melissa Lees,Benjamin Kamien,Bruce Hopper,Tiong Yang Tan,Patrick Yap,Zornitza Stark,Nobuhiko Okamoto,Noriko Miyake,Naomichi Matsumoto,Ellen Macnamara,Jennifer L. Murphy,Elizabeth McCormick,Hakon Hakonarson,Marni J. Falk, Dong Li,Patrick Blackburn,Eric Klee,Dusica Babovic-Vuksanovic,Susan Schelley,Louanne Hudgins,Sarina Kant,Bertrand Isidor,Benjamin Cogne,Kimberley Bradbury,Mark Williams,Chirag Patel,Helen Heussler,Celia Duff-Farrier,Phillis Lakeman,Ingrid Scurr,Usha Kini,Mariet Elting,Margot Reijnders,Janneke Schuurs-Hoeijmakers,Mohamed Wafik,Anne Blomhoff,Claudia A. L. Ruivenkamp,Esther Nibbeling,Alexander J. M. Dingemans,Emilie D. Douine,Stanley F. Nelson,Maja Hempel,Tatjana Bierhals,Davor Lessel,Jessika Johannsen,Valerie A. Arboleda,Ruth Newbury-Ecob

GENETICS IN MEDICINEno. 11 (2020): 1920-1920

引用0浏览0引用

Congenital Hyperinsulinism Due to Pancreatic Mosaicism for Paternal Uniparental Disomy of All Chromosome 11, with the Additional Finding of Pancreatic Mosaicism for Trisomy 12

Louise Conwell,James Harraway,Mark Williams,Christopher Joy, Bonnie Scurry, Kevin Lee,Craig McBride,Kelvin Choo,Tony Huynh, Carolyn Ng,Sarah Flanagan

HORMONE RESEARCH IN PAEDIATRICS（2019）

引用0浏览0引用

KAT6A Syndrome: Genotype–phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants

Joanna Kennedy,David Goudie,Edward Blair,Kate Chandler,Shelagh Joss,Victoria McKay,Andrew Green,Ruth Armstrong,Melissa Lees,Benjamin Kamien,Bruce Hopper,Tiong Yang Tan,Patrick Yap,Zornitza Stark,Nobuhiko Okamoto,Noriko Miyake,Naomichi Matsumoto,Ellen Macnamara,Jennifer L. Murphy,Elizabeth McCormick,Hakon Hakonarson,Marni J. Falk, Dong Li,Patrick Blackburn,Eric Klee,Dusica Babovic-Vuksanovic,Susan Schelley,Louanne Hudgins,Sarina Kant,Bertrand Isidor,Benjamin Cogne,Kimberley Bradbury,Mark Williams,Chirag Patel,Helen Heussler,Celia Duff-Farrier,Phillis Lakeman,Ingrid Scurr,Usha Kini,Mariet Elting,Margot Reijnders,Janneke Schuurs-Hoeijmakers,Mohamed Wafik,Anne Blomhoff,Claudia A. L. Ruivenkamp,Esther Nibbeling,Alexander J. M. Dingemans,Emilie D. Douine,Stanley F. Nelson,Maja Hempel,Tatjana Bierhals,Davor Lessel,Jessika Johannsen,Valerie A. Arboleda,Ruth Newbury-Ecob

Genetics in medicine（2019）

引用18浏览0WOS引用

Expanding the Phenotype of Intellectual Disability Caused by HIVEP2 Variants

Heidi Goldsmith, Anna Wells, Maria J. N. Sa,Mark Williams,Helen Heussler,Melissa Buckman,Rolph Pfundt,Bert B. A. de Vries,Himanshu Goel

American journal of medical genetics Part A（2019）

引用7浏览0WOS引用

DNA Extraction from Placental, Fetal and Neonatal Tissue at Autopsy: What Organ to Sample for DNA in the Genomic Era

Admire Matsika,Renee Gallagher,Mark Williams,Christopher Joy, Emma Lowe,Gareth Price,Lachlan Webb,Louise Marquart,Anita Pelecanos,James Harraway,Deon J. Venter,Jane E. Armes

PATHOLOGY（2019）

引用2浏览0WOS引用

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