I. Scurr

发表

Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant

Diana S. Johnson, S. Lynch, P. Turnpenny, 2021, American journal of medical genetics. Part A.

University of Dundee Exome Sequencing in Patients With Antiepileptic Drug Exposure And Complex Phenotypes Deciphering Developmental Disorders ( DDD ) Study

D. Baralle, J. Clayton-Smith, S. Holder, 2019 .

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 .

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

M. Bamshad, D. Milewicz, D. Earl, 2022, American journal of medical genetics. Part A.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

E. van Binsbergen, J. Baptista, K. Gripp, 2021, European Journal of Human Genetics.

Dominant missense mutations in ABCC9 cause Cantú syndrome

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

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Robert W. Taylor, J. Lupski, S. Ellard, 2020, American journal of human genetics.

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.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

C. Nichols, Jin-Moo Lee, M. Remedi, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Clinical utility gene card for: Cantú syndrome

C. Nichols, S. Smithson, D. Grange, 2017, European 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 .

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

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

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes

D. Baralle, J. Clayton-Smith, S. Holder, 2019, Archives of Disease in Childhood.

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.

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

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

Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.

S. Ellard, J. Baptista, R. Caswell, 2019, European journal of medical genetics.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Extreme phenotypes of Loeys Dietz syndrome.

G. Stuart, I. Scurr, A. Tometzki, 2017, Clinical Dysmorphology.

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

S. Mehta, J. Roos‐Hesselink, M. Kempers, 2018, Human mutation.

A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype

Cathy Williams, I. Scurr, P. Lunt, 2014, 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.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd.

S. Ellard, J. Baptista, A. Le Fèvre, 2020, European journal of medical genetics.

Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester.

J. Barton, E. Crowne, S. Abdel-Fattah, 2017, Clinical dysmorphology.

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.

G. Repetto, N. Lahiri, I. Scurr, 2023, American journal of medical genetics. Part A.

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.

Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager

J. Johnston, Christopher A. Ours, I. Scurr, 2023, American journal of medical genetics. Part A.

Extreme phenotypes of Loeys Dietz syndrome.

G. Stuart, I. Scurr, A. Tometzki, 2017, Clinical dysmorphology.

R. Caswell, I. Scurr, M. Babiker, 2019, European journal of medical genetics.

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

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

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

B. V. van Bon, L. Vissers, R. Pfundt, 2024, American journal of human genetics.