M. Lees

发表

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Peter N. Robinson, M. Reijnders, J. Hehir-Kwa, 2019, Front. Genet..

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

DLK1 Is a Novel Link Between Reproduction and Metabolism.

M. Lees, A. Dauber, E. Baracat, 2018, The Journal of clinical endocrinology and metabolism.

Germline gain‐of‐function mutations of ALK disrupt central nervous system development

A. Munnich, O. Delattre, N. Boddaert, 2011, Human mutation.

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

D. Fitzpatrick, M. Lees, F. Kaiser, 2017, Epilepsia.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature 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.

Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias

R. Hennekam, E. Tobias, G. Mortier, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS)

D. Baralle, M. Patton, R. Winter, 2003, American journal of medical genetics. Part A.

Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

K. Lachlan, M. Lees, J. Juusola, 2020, American journal of medical genetics. Part A.

Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies

J. Gomori, M. Lees, R. Gunny, 2011, American journal of medical genetics. Part A.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

E. van Binsbergen, S. Twigg, A. Wilkie, 2019, American journal of human genetics.

The Deciphering Developmental Disorders Study (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics 104 (4),

M. V. Dooren, S. Twigg, A. Wilkie, 2019 .

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Mutation update for the SATB2 gene

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

E. Behr, H. Cross, M. Patton, 2017, PLoS genetics.

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

E. Bertini, R. Hennekam, H. Kayserili, 2007, American journal of human genetics.

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

G. Mortier, D. Rimoin, A. Zankl, 2005, Journal of Medical Genetics.

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

Courtney E. French, S. Gustincich, A. Bruselles, 2020, American journal of human genetics.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

F. Elmslie, D. Soares, C. Abbott, 2016, Molecular genetics & genomic medicine.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

J. Hurst, P. Clouston, E. Giannoulatou, 2022, bioRxiv.

Dominant missense mutations in ABCC9 cause Cantú syndrome

Stef van Lieshout, G. Vriend, E. Cuppen, 2012, Nature Genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Novel de novo EEF 1 A 2 missense mutations causing epilepsy and intellectual disability

F. Elmslie, D. Soares, C. Abbott, 2016 .

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

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.

Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

E. Zackai, J. Clayton-Smith, R. Scott, 2016, American journal of medical genetics. Part A.

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

E. Bertini, R. Borgatti, R. Hennekam, 2012, Orphanet Journal of Rare Diseases.

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

A. Moore, M. Lees, B. Castle, 2013, Journal of Medical Genetics.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019, American journal of medical genetics. Part A.

heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST 1 H 1 E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019 .

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

S. Robertson, D. Goudie, V. Shashi, 2011, American journal of medical genetics. Part A.

TBX22 mutations are a frequent cause of cleft palate

M. Patton, J. Murray, A. Richieri‐Costa, 2004, Journal of Medical Genetics.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

A. Munnich, H. R. Crollius, D. McBride, 2009, Nature Genetics.

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

F. Muntoni, J. Dowling, K. Mills, 2009, Neuromuscular Disorders.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Oculo-ectodermal syndrome: report of two further cases.

W. Reardon, D. Taylor, M. Lees, 2000, American journal of medical genetics.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32

R. Winter, M. Lees, H. Saal, 1999 .

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Kristin M. Scheible, U. Surti, P. Stankiewicz, 2016, Human Genetics.

Complex genetics of nonsyndromic cleft lip and palate

M. Lees, 1998 .

Advances in genetics.

M. Lees, R. Winter, 1996, Archives of disease in childhood.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

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 .

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss‐of‐function vs missense variants

P. Beales, M. Passos-Bueno, M. Lees, 2017, Clinical genetics.

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

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

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mark T. Handley, M. Hurles, D. Grozeva, 2017, Genetics in Medicine.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

K. Devriendt, G. Mortier, Y. Gillerot, 2010, Molecular Syndromology.

Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13).

R. Regan, J. Flint, R. Winter, 2001, American journal of medical genetics.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Mutation update for the SATB 2 gene

Adeline, Marc S. Williams, E. Roeder, 2019 .

TBC1D24 genotype–phenotype correlation

J. Rosenfeld, I. Scheffer, J. Gécz, 2016, Neurology.

TBC 1 D 24 genotype – phenotype correlation Epilepsies and other neurologic features

J. Rosenfeld, A. Pagnamenta, P. Verstreken, 2022 .

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

S. Mundlos, G. Mortier, Y. Crow, 2004, American journal of human genetics.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

B. D. de Vries, M. Lees, I. Feenstra, 2006, European journal of medical genetics.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

M. B. Pereira, A. Need, D. Nickerson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Cleft Lip with Cleft Palate, Ankyloglossia, and Hypodontia are Associated with TBX22 Mutations

M. Lees, M. McEntagart, P. Stanier, 2011, Journal of dental research.

Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome?

M. Lees, A. Barnicoat, L. Kangesu, 2006, Clinical dysmorphology.

Submucous Cleft Palate: A Grading System and Review of 40 Consecutive Submucous Cleft Palate Repairs

M. Birch, M. Lees, D. Sell, 2004, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.

C. Izzi, G. Meroni, M. Lees, 2013, European journal of medical genetics.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

R. Hennekam, M. Lees, A. Hing, 2013, Clinical genetics.

X‐linked CHARGE‐like Abruzzo–Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations

M. Lees, P. Stanier, E. Peskett, 2013, Clinical genetics.

Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.

Richard J. Thompson, M. Davenport, M. Lees, 2008, Journal of pediatric surgery.

Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

N. Prescott, R. Winter, M. Lees, 2000, Human Genetics.

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

C. Mercer, D. Wieczorek, Harris Morrison, 2012, Human molecular genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family

M. Farrall, M. Lees, P. Stanier, 2019, Journal of dental research.

Disruption of FOXF2 as a likely cause of absent uvula in a large Egyptian family

M. Lees, P. Stanier, D. Morrogh, 2019 .

Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

H. Peeters, M. Bitner-Glindzicz, R. Hennekam, 2011, Nature Genetics.

Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases.

W. Reardon, D. Taylor, M. Lees, 1998, Clinical dysmorphology.

Optic disc anomalies and frontonasal dysplasia

W. Reardon, D. Taylor, M. Lees, 1998, The British journal of ophthalmology.

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome

M. Lees, S. Drury, D. Bockenhauer, 2011, Pediatric Nephrology.

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

P. Scambler, R. Hennekam, P. Hammond, 2009, American journal of human genetics.

Prenatal sonographic diagnosis of Malpuech syndrome

C. Turnbull, M. Lees, L. Chitty, 2006, Prenatal diagnosis.

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.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

COLEC10 is mutated in 3MC patients and regulates early craniofacial development

P. Beales, D. Jenkins, J. Morton, 2017, PLoS genetics.

Prenatal diagnosis and management of orofacial clefts

M. Lees, A. Cockell, 2000, Prenatal diagnosis.

Prenatal ultrasound detection of micrognathia and its association with Robin sequence.

P. Pandya, M. Lees, L. Regan, 2017, Journal of plastic, reconstructive & aesthetic surgery : JPRAS.

Two siblings with an unusual nasal malformation: Further instances of craniorhiny?

R. Hennekam, M. Lees, L. Kangesu, 2007, American journal of medical genetics. Part A.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Patients' views of the patient's charter.

M. Lees, C. McCready, L. Hall, 1992, BMJ.

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

M. Lees, P. Stanier, G. Moore, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Familial risks of oral clefts

M. Lees, 2008, BMJ : British Medical Journal.

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.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

T. Sanger, E. Bertini, M. Koenig, 2008, Clinical genetics.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

M. Lees, P. Stanier, G. Moore, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Candidate gene analysis of TGFA, EDN-1, and MTHFR, and the influence of maternal smoking in nonsyndromic cleft lip and palate.

N. Prescott, R. Winter, M. Lees, 1999 .

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

F. Muntoni, J. Dowling, K. Mills, 2009, Neuromuscular Disorders.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Ibitoye, Fitzpatrick, Connell, 2017, Genetics in Medicine.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

D. Baralle, N. S. Thomas, N. Whiffin, 2022, Genome Medicine.