K. Marks

发表

Large-scale discovery of novel genetic causes of developmental disorders

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

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.

Interstitial deletion of chromosome 7p detected antenatally.

K. Marks, L. Hill, R. Chitham, 1985, Journal of medical genetics.

Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12

M. Patton, M. Savage, A. Brady, 1999, Journal of medical genetics.

Cytogenetic and fluorescent in-situ hybridization chromosomal studies on in-vitro fertilized and intracytoplasmic sperm injected 'failed-fertilized' human oocytes.

K. Marks, M. Wall, A. Muggleton-Harris, 1996, Human reproduction.

Correction of stromal cell defect after bone marrow transplantation in aplastic anaemia

K. Marks, E. Gordon-Smith, C. Pocock, 2001, British journal of haematology.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

L. Vissers, R. Pfundt, P. Stankiewicz, 2014, American journal of human genetics.

Transient Neonatal Diabetes mellitus in a Child with invdup(6)(q22q23) of Paternal Origin

I. Lerer, D. Abeliovich, J. Zlotogora, 1997, European journal of human genetics : EJHG.

Germline CBL mutation associated with a noonan‐like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

R. Nash, S. Mansour, Meredith Wilson, 2014, 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 .

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

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

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

C. Lese-Martin, N. Rahman, Shuwen Huang, 2009, American journal of medical genetics. Part A.

Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement

M. Patton, D. Josifova, K. Marks, 2004, Clinical dysmorphology.

Paternal inheritance of a 16qh-polymorphism in a patient with repeated IVF failure.

J. Grudzinskas, A. Handyside, K. Marks, 2006, Reproductive biomedicine online.

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.

First trimester amnifiltration: technical, cytogenetic and pregnancy outcome of 104 consecutive procedures

K. Marks, L. Penna, D. Byrne, 1995, British journal of obstetrics and gynaecology.

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.

Germline CBL mutation associated with a noonan‐like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

R. Nash, S. Mansour, Meredith Wilson, 2014, American journal of medical genetics. Part A.