M. Parker

发表

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

K. R. Jun, J. Rosenfeld, J. Schneider, 2016, Cell Death and Differentiation.

Running title: A role for ASPP2 in human congenital disorder

Zubaidah, J. Rosenfeld, Xin Lu, 2018 .

J. Sebat, C. Corsello, T. de Ravel, 2017, Journal of Medical Genetics.

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Soo-Mi Park, K. Lachlan, D. Fitzpatrick, 2015, American journal of medical genetics. Part A.

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Michael J Parker, Li Jiang, Richard Trembath, 2004, American journal of human genetics.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

Denise L. Perry, J. Rosenfeld, A. Reymond, 2018, Human mutation.

Quantifying the contribution of recessive coding variation to developmental disorders

James D Stephenson, Patrick J. Short, Andrew R. Bassett, 2017, Science.

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

J. Thornton, R. Laskowski, Alison M. Male, 2017, Human molecular genetics.

The male phenotype in osteopathia striata congenita with cranial sclerosis

S. Robertson, R. Nash, M. Porteous, 2011, American journal of medical genetics. Part A.

Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists

M. Parker, H. Fortnum, I. Young, 1999, Journal of medical genetics.

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

M. Parker, B. Vries, W. Nillesen, 2012, European Journal of Human Genetics.

A novel de novo 20q13.32–q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass

M. Parker, Kath Smith, M. Balasubramanian, 2015, Journal of Human Genetics.

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

H. Brunner, R. Wevers, M. Parker, 2013, European Journal of Human Genetics.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

Further delineation of phenotypic spectrum of SCN2A‐related disorder

D. Baralle, J. Clayton-Smith, C. Ruivenkamp, 2021, American journal of medical genetics. Part A.

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

I. Harting, M. Parker, A. van Haeringen, 2021, European Journal of Human Genetics.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Genetic investigations in childhood deafness

M. Bitner-Glindzicz, M. Parker, M. Parker, 2014, Archives of Disease in Childhood.

Republished: Genetic investigations in childhood deafness

M. Bitner-Glindzicz, M. Parker, M. Parker, 2014, Postgraduate Medical Journal.

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

M. Hurles, A. Paetau, A. Palotie, 2016, American journal of human genetics.

Mosaic deletion of EXOC6B: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability

A. Jauch, C. Sutter, C. Evers, 2014, American journal of medical genetics. Part A.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

D. Skuse, A. McQuillin, N. Bass, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

J. Buchan, D. Lacombe, M. Parker, 2023, American journal of human genetics.

GLRB is the third major gene of effect in hyperekplexia.

B. Weschke, R. Shiang, M. Parker, 2013, Human molecular genetics.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype

J. Rosenfeld, E. Zackai, M. Parker, 2011, Journal of Medical Genetics.

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

M. Parker, J. Humberson, A. Vanlander, 2020, Clinical genetics.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

K. Devriendt, J. Clayton-Smith, S. Bhaskar, 2017, American journal of human genetics.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Colin A. Johnson, J. Rosenfeld, A. Bateman, 2017, American journal of human genetics.

Mosaic structural variation in children with developmental disorders

Tom R. Gaunt, Hashem A. Shihab, Blair H. Smith, 2015, Human molecular genetics.

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1133 families with developmental disorders

Tomas W. Fitzgerald, T. Fitzgerald, M. Hurles, 2017, Genetics in Medicine.

Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication

P. Griffiths, M. Parker, Kath Smith, 2012, Journal of Pediatric Genetics.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

J. Schuurs-Hoeijmakers, B. Ceulemans, T. Kleefstra, 2016, Journal of Medical Genetics.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

J. Hehir-Kwa, B. D. de Vries, D. Baralle, 2020, American journal of human genetics.

A. Fry, T. Rinne, M. Parker, 2020, Human mutation.

Deafness and Related Syndromes

M. Parker, I. Young, T. Hutchin, 2004 .

Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures.

M. Parker, M. Balasubramanian, M. Parker, 2010, Clinical dysmorphology.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNAâ€“protein interaction

E. Tobias, P. Calvas, J. Marsh, 2019 .

Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study

N. Bishop, M. Parker, A. Dalton, 2015, Clinical dysmorphology.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

J. Rosenfeld, E. Roeder, F. Xia, 2017, American journal of human genetics.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Golder N Wilson, E. Zackai, A. Nordgren, 2015, American journal of human genetics.