Publications by authors named "Miranda Splitt"

Claim this Profile
T
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Miranda Splitt

Am J Hum Genet· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Sandra Coppens, Nicolas Deconinck, Patricia Sullivan, Andrei Smolnikov, Joshua S Clayton, Miranda P Splitt

Ann Neurol· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Vani Jain, Seow Hoong Foo, Stephen Chooi, Celia Moss, Richard Goodwin, Miranda Splitt

Eur J Hum Genet· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Tristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, Geraldine Siegfried, Cédric Lecaignec, Miranda Splitt

J Med Genet· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Miranda Splitt

Am J Hum Genet· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Miranda Splitt

Nat Commun· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Phenotypic Continuum of -Related Disorders.
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A Brownstein, Miranda Splitt

Neurology· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mosaicism in Hartsfield syndrome.
Elizabeth Harris, Ruth Richardson, Srinivas Annavarapu, James Tellez, David Butteriss, Miranda Splitt

Eur J Med Genet· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Xenia Latypova, Marie Vincent, Alice Mollé, Oluwadamilare A Adebambo, Cynthia Fourgeux, Miranda Splitt

Am J Hum Genet· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Víctor Faundes, Martin D Jennings, Siobhan Crilly, Sarah Legraie, Sarah E Withers, Miranda Splitt

Nat Commun· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome.
Indraneel Banerjee, Senthil Senniappan, Thomas W Laver, Richard Caswell, Martin Zenker, Miranda Splitt

Wellcome Open Res· August 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Miranda Splitt

Genet Med· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Sanaa Choufani, William T Gibson, Andrei L Turinsky, Brian H Y Chung, Tianren Wang, Miranda Splitt

Am J Hum Genet· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Miranda Splitt

Genet Med· April 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Stuart Aitken, Helen V Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Miranda Splitt

Am J Hum Genet· November 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Miranda Splitt

Genet Med· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Maria J Nabais Sá, Philip J Jensik, Stacey R McGee, Michael J Parker, Nayana Lahiri, Miranda Splitt

Genet Med· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Miranda Splitt

Genet Med· June 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Fetal hydrops: diagnosis and prognosis.
Gareth J Waring, Miranda Splitt, Stephen C Robson

Arch Dis Child· March 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Q
Quantifying the contribution of recessive coding variation to developmental disorders.
Hilary C Martin, Wendy D Jones, Rebecca McIntyre, Gabriela Sanchez-Andrade, Mark Sanderson, Miranda Splitt

Science· December 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Caroline Michot, Carine Le Goff, Edward Blair, Patricia Blanchet, Yline Capri, Miranda Splitt

Eur J Hum Genet· November 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Miranda Splitt

Oncotarget· November 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SET de novo frameshift variants associated with developmental delay and intellectual disabilities.
Ruth Richardson, Miranda Splitt, Ruth Newbury-Ecob, Alice Hulbert, Joanna Kennedy

Eur J Hum Genet· September 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Josephina A N Meester, Maja Sukalo, Kim C Schröder, Denny Schanze, Gareth Baynam, Miranda Splitt

Hum Mutat· September 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
Ceris I Owen, Ramsay Bowden, Michael J Parker, Jo Patterson, Joan Patterson, Miranda Splitt

Am J Med Genet A· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis