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.

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.

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.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human 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.

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.

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 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American 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.

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

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

Quantifying the contribution of recessive coding variation to developmental disorders

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

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

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

Republished: Genetic investigations in childhood deafness

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

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.

Running title: A role for ASPP2 in human congenital disorder

Zubaidah, J. Rosenfeld, Xin Lu, 2018 .

Pneumothorax from subpleural blebs—A new association of sotos syndrome?

M. Parker, Kath Smith, M. Balasubramanian, 2014, 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.

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

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

Dual diagnosis causing severe phenotype in a patient with Angelman syndrome.

M. Parker, M. Balasubramanian, S. Mordekar, 2019, Clinical dysmorphology.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

K. Nathanson, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical 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.

De Barsy syndrome: a review of the phenotype

M. Parker, B. Wagner, E. Kivuva, 2008, Clinical dysmorphology.

Type 1 collagenopathy presenting with a Russell–Silver phenotype

M. Parker, J. Rankin, A. Dalton, 2011, 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.

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

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

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

A. Fry, K. Lachlan, R. Newbury-Ecob, 2020, American journal of medical genetics. Part A.

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.

A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

A. Fry, M. Parker, A. Novelli, 2020, Clinical genetics.

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

M. Hurles, D. Grozeva, Soo-Mi Park, 2014, 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.

Aetiological investigations in early developmental impairment: are they worth it?

A. Hart, S. Alabed, M. Parker, 2017, Archives of Disease in Childhood.

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

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

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

Genetic investigations in childhood deafness

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

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.

Deafness and Related Syndromes

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

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings.

G. Taylor, M. Parker, A. Middleton, 1999, International journal of pediatric otorhinolaryngology.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

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

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

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

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

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

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 contribution of X-linked coding variation to severe developmental disorders

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

Genomics for paediatricians: promises and pitfalls

M. Parker, J. Willoughby, C. Hammond, 2018, Archives of Disease in Childhood.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

J. Rosenfeld, I. Coppens, T. Loddenkemper, 2018, Annals of neurology.

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.

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

L. Vissers, R. Pfundt, B. D. de Vries, 2020, American 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.

Extending the phenotype associated with the CSNK2A1‐related Okur–Chung syndrome—A clinical study of 11 individuals

A. Green, M. Parker, B. Castle, 2018, American journal of medical genetics. Part A.

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.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

D. Baralle, C. Mercer, S. Mehta, 2016, Journal of Medical Genetics.

The genetic assessment of looked after children: common reasons for referral and recent advances

M. Parker, K. Teasdale, Michael J Parker, 2016, Archives of Disease in Childhood.

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

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

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

M. Hurles, L. Vissers, A. Hoischen, 2015, The Journal of clinical investigation.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM

M. Bitner-Glindzicz, R. Winter, M. Parker, 2001, Human Genetics.

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

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.

Anna Lindstrand, Michael J Parker, Avni Santani, 2015, 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.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

C. Cytrynbaum, C. Marshall, A. Noor, 2015, Clinical genetics.

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.

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

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.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

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.

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.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

E. Tobias, B. Lorenz, J. Hurst, 2019, Genetics in Medicine.

Expanding the phenotype of SETD5‐related disorder and presenting a novel association with bone fragility

M. Parker, M. Balasubramanian, Zena Lam, 2021, Clinical 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.

CRTAP mutation in a patient with Cole‐Carpenter syndrome

A. Offiah, M. Parker, A. Dalton, 2015, American journal of medical genetics. Part A.

Genotype–phenotype study in type V osteogenesis imperfecta

A. Offiah, N. Bishop, M. Parker, 2013, Clinical dysmorphology.

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.

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

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

Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures – a new syndrome?

M. Parker, E. Hobson, A. Dobbie, 2005, Clinical dysmorphology.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

Monosomy 5p and trisomy 12p in a boy with familial balanced translocation

M. Parker, P. Vasudevan, 2006, Clinical dysmorphology.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Heterozygous variants in SPTBN1 cause intellectual disability and autism

J. Rosenfeld, Yaping Yang, F. Xia, 2021, American journal of medical genetics. Part A.

Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016 .

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

Genetics and deafness: what do families want?

M. Parker, H. Fortnum, I. Young, 2000, Journal of medical genetics.

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.

Connexin-26 mutations and inherited deafness

M. Parker, H. Fortnum, I. Young, 1998, The Lancet.

Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment

M. Bitner-Glindzicz, M. Parker, R. Mueller, 2001, Journal of medical genetics.

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

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

Population-Based Genetic Study of Childhood Hearing Impairment in the Trent Region of the United Kingdom: Estudio Genetico Sobre Sordera Infantil en una Poblacion de la Region de Trent en el Reino Unido

M. Parker, A. Davis, H. Fortnum, 2000, Audiology : official organ of the International Society of Audiology.

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.

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

K. Lachlan, M. Parker, S. Sharif, 2019, American journal of medical genetics. Part A.

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

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