D. Mowat

发表

Sleep disturbance in Mowat–Wilson syndrome

Meredith Wilson, S. Einfeld, E. Evans, 2016, American journal of medical genetics. Part A.

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome

I. Scheffer, S. Berkovic, Z. Stark, 2022, American journal of medical genetics. Part A.

ZFHX1B mutations in patients with Mowat‐Wilson syndrome

Meredith Wilson, M. Goossens, N. Collot, 2007, Human mutation.

The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome

A. Kelleher, J. Zaunders, Meredith Wilson, 2021, International Journal of Molecular Sciences.

Deficiency of the syntrophins and α-dystrobrevin in patients with inherited myopathy

K. North, M. F. Peters, A. Compton, 2003, Neuromuscular Disorders.

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Joseph Sack, Ethylin Wang Jabs, Amit V Pandey, 2005, American journal of human genetics.

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

K. Mathews, K. North, M. Mörgelin, 2008, Annals of neurology.

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.

Gabriele Gillessen-Kaesbach, Kerstin Kutsche, Martin Zenker, 2008, Clinical dysmorphology.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

F. Kortüm, B. Dallapiccola, V. Caputo, 2015, Nature Genetics.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Mark T. Handley, I. Jackson, I. Glass, 2013, Human mutation.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

The behavioral phenotype of Mowat–Wilson syndrome

B. Tonge, J. Taffe, Meredith Wilson, 2012, American journal of medical genetics. Part A.

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

T. de Ravel, R. Hennekam, J. Clayton-Smith, 2008, Human mutation.

Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency.

S. Sandaradura, T. Roscioli, J. Fletcher, 2021, The Journal of molecular diagnostics : JMD.

Chapter 35. Mowat-Wilson Syndrome

Meredith Wilson, D. Mowat, 2010 .

Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation

Meredith Wilson, M. Goossens, B. Sutton, 2005, American journal of medical genetics. Part A.

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study

T. Roscioli, Meredith Wilson, M. Caramins, 2009, Genes, chromosomes & cancer.

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

L. Waddell, K. North, N. Clarke, 2012, Neurology.

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

M. Goossens, D. Mowat, R. Rintala, 2001, Human molecular genetics.

Mowat-Wilson syndrome

M. Goossens, D. Mowat, M. Wilson, 2003, Journal of Medical Genetics.

Kousseff syndrome: A causally heterogeneous disorder

S. Dunwoodie, D. Sparrow, E. Kirk, 2004, American journal of medical genetics. Part A.

Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B)

S. Bernasconi, L. Garavelli, A. Rauch, 2005, Hormone Research in Paediatrics.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

Mowat-Wilson syndrome

D. Mowat, Michel Goossens, Meredith Wilson, 2003, Journal of medical genetics.