Meena Balasubramanian (M Balasubramanian)

Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 32

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Journal of medical genetics

Molecular genetics & genomic medicine

University of Sheffield

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

Affiliation History

University of Sheffield Mar 23 2017

United Kingdom

Reader :: Academic Unit of Child Health, Department of Oncology and Metabolism

Sheffield Children's NHS Foundation Trust Oct 01 2012

United Kingdom

Consultant in Clinical Genetics :: Sheffield Clinical Genetics Service

Sheffield Children's NHS Foundation Trust Jan 02 2008 - Oct 01 2012

United Kingdom

Specialist Registrar :: Sheffield Clinical Genetics Service

Princess Anne Hospital Jan 01 2007 - Jan 01 2008

United Kingdom

Specialist Registrar :: Wessex Clinical Genetics Service

Publications

Emily Woods, Nicola Holmes, Shadi Albaba, Iwan Robert Evans, Meena Balasubramanian
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism. Clinical genetics (2024)
Emily Woods, Nicola Holmes, Shadi Albaba, Iwan Robert Evans, Meena Balasubramanian
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism. Clinical genetics 105 (5) (2024)
Emily Woods, Nicola Holmes, Shadi Albaba, Iwan Robert Evans, Meena Balasubramanian
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism. Clinical genetics 105 (5) (2024)
Emily Woods, Nicola Holmes, Shadi Albaba, Iwan Robert Evans, Meena Balasubramanian
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism. Clinical genetics 105 (5) (2024)
Sunwoo Lee, Eguzkine Ochoa, Magdalena Badura-Stronka, Deirdre Donnelly, Damien Lederer, Sally A Lynch, Alice Gardham, Jenny Morton, Helen Stewart, France Docquier, Fay Rodger, Ezequiel Martin, Ana Toribio, Eamonn R Maher, Meena Balasubramanian
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. European journal of human genetics : EJHG (2023)
James Taylor, Meena Balasubramanian
First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be? BMJ case reports 15 (3) (2022)
Emily Woods, Imogen Marson, Emanuele Coci, Michael Spiller, Ajith Kumar, Angela Brady, Tessa Homfray, Richard Fisher, Peter Turnpenny, Julia Rankin, Farah Kanani, Konrad Platzer, Athina Ververi, Eleftheria Emmanouilidou, Nourxan Bourboun, George Giannakoulas, Meena Balasubramanian
Expanding the phenotype of TAB2 variants and literature review. American journal of medical genetics. Part A 188 (11) (2022)
James Taylor, Michael Spiller, Kara Ranguin, Antonio Vitobello, Christophe Philippe, Ange-Line Bruel, Gerarda Cappuccio, Nicola Brunetti-Pierri, Marjolaine Willems, Bertrand Isidor, Kristen Park, Meena Balasubramanian
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American journal of medical genetics. Part A 188 (5) (2022)
Schaida Schirwani, Emily Woods, David A Koolen, Charlotte W Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M Graham, Katheryn Grand, Tyler Mark Pierson, Jeffrey M Chung, Meena Balasubramanian
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. American journal of medical genetics. Part A (2022)
Emily Woods, Michael Spiller, Meena Balasubramanian
Report of two children with global developmental delay in association with de novo TLK2 variant and literature review. American journal of medical genetics. Part A (2021)
Yuri A Zarate, Katherine A Bosanko, Mary Ann Thomas, David T Miller, Kristina Cusmano-Ozog, Antonio Federico Martínez-Monseny, Cynthia J Curry, John M Graham, Lea Velsher, Mir Reza Bekheirnia, Veronica Seidel, Demitrios Dedousis, Anna L Mitchell, Amy M DiMarino, Angelika Riess, Meena Balasubramanian, Jennifer L Fish, Aisling R Caffrey, Nicole Fleischer, Tyler Mark Pierson, Ronald V Lacro
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clinical genetics 99 (4) (2021)
Elizabeth Anderson, Zena Lam, Paul Arundel, Michael Parker, Meena Balasubramanian
Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility. Clinical genetics 100 (3) (2021)
Anna Durkin, Catherine DeVile, Paul Arundel, Mary Bull, Jennifer Walsh, Nicholas J Bishop, Emilie Hupin, Susan Parekh, Ramesh Nadarajah, Amaka C Offiah, Alistair Calder, Joanna Brock, Duncan Baker, Meena Balasubramanian
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review. Journal of medical genetics (2021)
Melody Grace Redman, Bart E Wagner, Sophie Cadden, Duncan Baker, Jessica M Bowen, Diana Johnson, Glenda Sobey, Meena Balasubramanian
Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta. Ultrastructural pathology 45 (6) (2021)
Patrick Thornley, Nicholas J Bishop, Duncan Baker, Joanna Brock, Paul Arundel, Christine Burren, Sarah Smithson, Catherine DeVile, Belinda Crowe, Jeremy Allgrove, Vrinda Saraff, Nick Shaw, Meena Balasubramanian
Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study. Archives of disease in childhood (2021)
T Michael Yates, Philippe M Campeau, Jamal Ghoumid, Maria Kibaek, Martin J Larsen, Thomas Smol, Sami Albaba, Jens Michael Hertz, Meena Balasubramanian
Biallelic variants in GLE1 with survival beyond neonatal period. Clinical genetics 98 (6) (2020)
Thabo M Yates, Morgan Drucker, Angela Barnicoat, Karen Low, Erica H Gerkes, Andrew E Fry, Michael J Parker, Mary O'Driscoll, Perrine Charles, Helen Cox, Isabelle Marey, Boris Keren, Tuula Rinne, Meriel McEntagart, Vijaya Ramachandran, Suzanne Drury, Fleur Vansenne, Deborah A Sival, Johanna C Herkert, Bert Callewaert, Wen-Hann Tan, Meena Balasubramanian
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human mutation 41 (5) (2020)
Lianne C Krab, Íñigo Marcos-Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne-Marie Bisgaard, David R Fitzpatrick, Sanna Gudmundsson, Sylvia A Huisman, Tugba Kalayci, Saskia M Maas, Francisco Martinez Castellano, Margo Whiteford, Leonie A Menke, Paul A Mulder, Oliver D Murch, Michael Parker, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Jill Anne Rosenfeld, Emanuela Scarano, Marwan S Shinawi, Paulino Gómez-Puertas, Zeynep Tümer, Raoul C M Hennekam
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Human genetics 139 (5) (2020)
Anna Durkin, Shadi Albaba, Andrew E Fry, Jenny E Morton, Andrew Douglas, Ana Beleza, Denise Williams, Catharina M L Volker-Touw, Sally A Lynch, Natalie Canham, Virginia Clowes, Volker Straub, Katherine Lachlan, Frances Gibbon, Mayy El Gamal, Vinod Varghese, Michael J Parker, Ruth Newbury-Ecob, Peter D Turnpenny, Alice Gardham, Neeti Ghali, Meena Balasubramanian
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review. American journal of medical genetics. Part A 182 (7) (2020)
Jessica A Radley, Rory B G O'Sullivan, Sarah E Turton, Helen Cox, Julie Vogt, Jenny Morton, Elizabeth Jones, Sarah Smithson, Katherine Lachlan, Julia Rankin, Jill Clayton-Smith, Josh Willoughby, Frances F Elmslie, Francis H Sansbury, Nicola Cooper, null null, Meena Balasubramanian
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. Clinical genetics 95 (4) (2020)
Schaida Schirwani, Emma Wakeling, Kath Smith, null null, Meena Balasubramanian
Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. American journal of medical genetics. Part A 176 (5) (2019)
Meena Balasubramanian, Emma Hobson, Mars Skae, Janine McCaughey, David J Stephens
Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis. Molecular genetics & genomic medicine 7 (12) (2019)
Josh Willoughby, Celia Duff-Farrier, Archana Desurkar, Manju Kurian, Ashok Raghavan, null null, Meena Balasubramanian
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. American journal of medical genetics. Part A 176 (5) (2019)
Farah Kanani, Michael J Parker, Christine P Burren, Julia Rankin, Meena Balasubramanian
Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype. American journal of medical genetics. Part A 179 (1) (2018)
Hilary C Martin, Wendy D Jones, Rebecca E McIntyre, Gabriela Sanchez-Andrade, Mark Sanderson, James David Stephenson, Carla P Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bruntraeger, Jeremy F McRae, Elena Prigmore, Patrick J Short, Mari E K Niemi, Joanna Kaplanis, Elizabeth J Radford, Nadia Akawi, Meena Balasubramanian, John Dean, Rachel Horton, Alice Hulbert, Diana S Johnson, Katie Johnson, Dhavendra Kumar, Sally-Ann Lynch, Sarju G Mehta, Jenny Morton, Michael J Parker, Miranda Splitt, Peter D Turnpenny, Pradeep C Vasudevan, Michael Wright, Andrew R Bassett, Sebastian S Gerety, Caroline Fiona Wright, David R FitzPatrick, Helen V Firth, Matthew E Hurles, Jeffrey C Barrett, null null
Quantifying the contribution of recessive coding variation to developmental disorders. Science (New York, N.Y.) 362 (6419) (2018)
Meena Balasubramanian, Nadja Fratzl-Zelman, Rory O'Sullivan, Mary Bull, Nicola Fa Peel, Rebecca C Pollitt, Rebecca Jones, Elizabeth Milne, Kath Smith, Paul Roschger, Klaus Klaushofer, Nicholas J Bishop
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties. American journal of medical genetics. Part A 176 (7) (2018)
Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, Mary-Alice Abbott, Victoria M Siu, Amy R U L Calhoun, Arti Pandya, Chumei Li, Elizabeth A Sellars, Julie Kaylor, Katherine Bosanko, Louisa Kalsner, Alice Basinger, Anne M Slavotinek, Hazel Perry, Margarita Saenz, Marta Szybowska, Louise C Wilson, Ajith Kumar, Caroline Brain, Meena Balasubramanian, Holly Dubbs, Xilma R Ortiz-Gonzalez, Elaine Zackai, Quinn Stein, Cynthia M Powell, Samantha A Schrier Vergano, Allison Britt, Angela Sun, Wendy Smith, E Martina Bebin, Jonathan Picker, Amelia Kirby, Hailey Pinz, Hannah Bombei, Sonal Mahida, Julie S Cohen, Ali Fatemi, Hilary J Vernon, Rebecca McClellan, Leah R Fleming, Brittney Knyszek, Michelle Steinraths, Cruz Velasco Gonzalez, Anita E Beck, Katie L Golden-Grant, Alena Egense, Aditi Parikh, Chantalle Raimondi, Brad Angle, William Allen, Suzanna Schott, Adi Algrabli, Nathaniel H Robin, Joseph W Ray, David B Everman, Michael J Gambello, Wendy K Chung
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. American journal of medical genetics. Part A 176 (4) (2018)
Claire Green, Joshua Willoughby, null null, Meena Balasubramanian
De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus. American journal of medical genetics. Part A 173 (12) (2017)
T Michael Yates, Pradeep C Vasudevan, Kate E Chandler, Deirdre E Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, null null, null null, Meena Balasubramanian
De novo mutations in HNRNPU result in a neurodevelopmental syndrome. American journal of medical genetics. Part A 173 (11) (2017)
Meena Balasubramanian, J Willoughby, A E Fry, A Weber, H V Firth, C Deshpande, J N Berg, K Chandler, K A Metcalfe, W Lam, D T Pilz, S Tomkins
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Journal of medical genetics 54 (8) (2017)
Meena Balasubramanian, Raja Padidela, Rebecca C Pollitt, Nicholas J Bishop, M Zulf Mughal, Amaka C Offiah, Bart E Wagner, Janine McCaughey, David J Stephens
P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of medical genetics 55 (3) (2017)
Meena Balasubramanian, H Lord, S Levesque, H Guturu, F Thuriot, G Sillon, A M Wenger, D L Sureka, T Lester, D S Johnson, J Bowen, A R Calhoun, D H Viskochil, null null, G Bejerano, J A Bernstein, D Chitayat
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of medical genetics 54 (3) (2016)

Meena Balasubramanian.css-eqlu8i{font-size:small;padding-left:4px;} (M Balasubramanian)

Publication Activity (10 Years)

Top Topics

Top Venues

Meena Balasubramanian (M Balasubramanian)