S. Joss

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Large-scale discovery of novel genetic causes of developmental disorders

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

Ethan M. Goldberg, Christopher H. Thompson, C. H. Thompson, 2020, Annals of neurology.

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

Janet M Thornton, Roman A Laskowski, Caroline F Wright, 2017, Molecular genetics & genomic medicine.

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.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

A. Hoischen, H. Peeters, E. Eichler, 2014, Genetics in Medicine.

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.

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype

S. Szelinger, D. Craig, K. Devriendt, 2018, American journal of medical genetics. Part A.

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.

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

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

De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia

D. Fitzpatrick, M. Whiteford, S. Joss, 2003, Clinical genetics.

Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability

D. V. van Aalten, M. Gundogdu, S. Joss, 2019, Proceedings of the National Academy of Sciences.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

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

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

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

P. Bolton, R. Appleton, F. Elmslie, 2019, Front. Neurol..

The contribution of non-canonical splicing mutations to severe dominant developmental disorders

Patrick J. Short, M. Hurles, J. Barrett, 2018 .

Pathogenicity and selective constraint on variation near splice sites

Patrick J. Short, M. Hurles, J. Barrett, 2018, bioRxiv.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array

J. R. Wilson, David M. Holden, P. W. Foster, 2016, British Journal of Cancer.

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

J. Thornton, R. Laskowski, H. Firth, 2016, Human molecular genetics.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Gianluca Bontempi, J. Vermeesch, T. Lenaerts, 2017, Genome Medicine.

Running title: A role for ASPP2 in human congenital disorder

Zubaidah, J. Rosenfeld, Xin Lu, 2018 .

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

N. Rahman, A. Renwick, Elise Ruark, 2015, Human molecular genetics.

Mutations in the PP 2 A regulatory subunit B family genes PPP 2 R 5 B , PPP 2 R 5 C and PPP 2 R 5 D cause human overgrowth

N. Rahman, A. Renwick, Elise Ruark, 2015 .

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

S. Seal, N. Rahman, I. Temple, 2013, American journal of medical genetics. Part A.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Minna Männikkö, David Curtis, Peter Holmans, 2016, Nature Neuroscience.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in Medicine.

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

J. Tolmie, S. Holden, R. McGowan, 2013, Clinical genetics.

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

S. Tomkins, E. Sheridan, S. Joss, 2008, European Journal of Pediatrics.

The face of Ulnar Mammary syndrome?

S. Mundlos, J. Tolmie, K. Prescott, 2011, European journal of medical genetics.

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

S. Mehta, E. Tobias, R. Newbury-Ecob, 2019, European journal of medical genetics.

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

L. Samuelsson, B. Isidor, Toshiyuki Yamamoto, 2014, Journal of Human Genetics.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

J. Tolmie, N. Tommerup, H. Karstensen, 2022, Scientific Reports.

A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome

M. Dixon, E. Sheridan, M. Ahmed, 2005, Journal of Medical Genetics.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome.

J. Tolmie, S. Joss, M. Donaldson, 2002, American journal of medical genetics.

Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome.

K. Prescott, S. Joss, M. Longoni, 2010, Clinical dysmorphology.

Mosaic structural variation in children with developmental disorders

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

series of 50 patients Molecular and clinical spectrum of type I plasminogen deficiency: a

S. Klebe, S. Seregard, S. Joss, 2012 .

Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients.

G. Veres, M. Irkec, S. Klebe, 2006, Blood.

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

W. Chung, C. Cytrynbaum, N. Brunetti‐Pierri, 2013, Human mutation.

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

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

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 .

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

S. Sawiak, P. Deriziotis, S. Fisher, 2016, American journal of human genetics.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

D. Pilz, A. Vincent, M. Slean, 2019, Brain : a journal of neurology.

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

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

Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability

D. V. van Aalten, M. Gundogdu, S. Joss, 2019, Proceedings of the National Academy of Sciences.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

A. Pagnamenta, Matteo P. Ferla, Jenny C. Taylor, 2019, Clinical genetics.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Ryan L. Collins, D. MacArthur, Daisuke Sato, 2017, Nature Genetics.

How to use… microarray comparative genomic hybridisation to investigate developmental disorders

J. Tolmie, S. Joss, Mira Kharbanda, 2014, Archives of Disease in Childhood: Education & Practice Edition.

Mardini–Nyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib—Is there a distinct recessive syndrome?

S. Smithson, P. Turnpenny, S. Joss, 2009, American journal of medical genetics. Part A.

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.

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

G. Mortier, B. Menten, S. Lyonnet, 2011, European Journal of Human Genetics.

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Sancha Martin, E. Tobias, A. Biankin, 2022, European Journal of Human Genetics.

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Arthur S. Lee, Hiromi Hirata, D. Baralle, 2019, Human mutation.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Eleanor F. Dewhurst, D. Skuse, M. Owen, 2022, The lancet. Psychiatry.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

J. Clayton-Smith, B. Gener, D. Goudie, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

Ahmed E. Fetit, A. Wood, C. Wise, 2016, Genes & development.

Whole genome sequencing of mutation-negative individuals with Cornelia de Lange Syndrome

K. Prescott, S. Holden, N. Whiffin, 2022, medRxiv.

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.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

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.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

A. Collins, R. Newbury-Ecob, A. Haeringen, 2019, European Journal of Human Genetics.

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

J. Gécz, C. Schwartz, D. V. van Aalten, 2020, European Journal of Human Genetics.

University of Dundee An intellectual disability syndrome with single nucleotide variants in O-GlcNAc Transferase Pravata,

J. Gécz, C. Schwartz, K. Õunap, 2020 .

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

Colin A. Johnson, K. Prescott, G. Cook, 2016, The Journal of allergy and clinical immunology.

Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

W. Reardon, J. Hurst, R. Newbury-Ecob, 2016, Clinical dysmorphology.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Chromosomal microarray analysis for looked after children: a double-edged sword?

J. Tolmie, S. Joss, M. Hamilton, 2014, Archives of Disease in Childhood.

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

T. Kleefstra, C. Fagerberg, M. Kurian, 2021, medRxiv.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

K. Heimdal, Soo-Mi Park, H. Firth, 2017, Journal of Medical Genetics.

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.

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

J. Knight, K. Elliott, D. Pilz, 2021, Brain : a journal of neurology.

G25 RASA1 Mutations and Vein of Galen Arterial Malformations

S. Joss, M. Suri, J. Bhattacharya, 2013, Archives of Disease in Childhood.

A Schinzel-Giedion-like syndrome--a milder version or a separate condition?

J. Dean, S. Joss, 2002, Clinical dysmorphology.

Nasopharyngeal teratoma associated with a complex congenital cardiac anomaly.

E. Hobson, S. Joss, Sumita Saha, 2007, Clinical Dysmorphology.

Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome

S. Szelinger, W. Dreschler, K. Devriendt, 2018, American Journal of Medical Genetics Part A.

How to use genetic testing after sudden infant death syndrome

S. Joss, L. Bryson, 2021, Archives of Disease in Childhood.

Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions

Eleanor F. Dewhurst, D. Skuse, M. Owen, 2023, JCPP Advances.

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

Z. Tümer, G. Romeo, I. Lebedev, 2014, Molecular Cytogenetics.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea

D. Fitzpatrick, S. Joss, D. Urquhart, 2018, Pediatrics.

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

J. Danesh, M. Daly, M. Hurles, 2016, bioRxiv.

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.

SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

H. Stewart, I. Maystadt, S. Joss, 2023, American journal of medical genetics. Part A.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

J. Rosenfeld, S. Lalani, U. Kini, 2023, European Journal of Human Genetics.

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

J. Gécz, C. Schwartz, D. V. van Aalten, 2020, European Journal of Human Genetics.

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

Z. Tümer, G. Romeo, I. Lebedev, 2014, Molecular Cytogenetics.

Nasal speech in patients with 12q15 microdeletions

G. Mortier, B. Menten, S. Lyonnet, 2011, European Journal of Human Genetics.

Transcriptome: from laboratory to clinic room

S. Joss, R. Dalrymple, 2019, Archives of Disease in Childhood: Education & Practice Edition.

De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia

Michael F. Wangler, H. Bellen, Sharayu Jangam, 2023, medRxiv.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

S. Lalani, U. Kini, B. Landis, 2023, European Journal of Human Genetics.

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Eleanor F. Dewhurst, D. Skuse, P. Holmans, 2022, The lancet. Psychiatry.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

C. Shaw-Smith, P. Clouston, T. Dabir, 2023, Movement disorders : official journal of the Movement Disorder Society.

Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

N. Brunetti‐Pierri, F. Alkuraya, S. Joss, 2024, American journal of medical genetics. Part A.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

L. Vissers, R. Pfundt, E. Bacchelli, 2024, American journal of human genetics.