J. Murray

发表

Expanding the genetics of microcephalic primordial dwarfism

J. Murray, 2015 .

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

P. Rosenberg, C. Klein, W. Newman, 2012, The Journal of pediatrics.

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

K. Devriendt, H. Firth, D. Fitzpatrick, 2014, European journal of medical genetics.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, J. Al-Aama, P. Tomançak, 2017, Nature Genetics.

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

E. Bongers, C. Wise, J. Murray, 2012, American journal of medical genetics. Part A.

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

A. Antoniou, Aarti Sharma, K. Williamson, 2022, Journal of Medical Genetics.

Mutations in DONSON disrupt replication fork stability and cause microcephalic 1 dwarfism . 2 3

Martin A. M. Reijns, Saleem, Abdulrahman, 2017 .

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Martin A. M. Reijns, J. Rosenfeld, Sancha Martin, 2018, American journal of human genetics.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Martin A. M. Reijns, D. Sillence, J. Marsh, 2019, Human mutation.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Edward S. Miller, T. Blundell, M. van der Burg, 2015, American journal of human 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.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

E. Zackai, C. Ponting, L. Sánchez-Pulido, 2016, American journal of human genetics.

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

E. Bongers, N. Pachter, J. Denecke, 2021, European Journal of Human Genetics.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Peter Nürnberg, Ingrid Hoffmann, Matthew E Hurles, 2014, Nature Genetics.

An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.

N. Carter, D. Fitzpatrick, J. Murray, 2012, Clinical Dysmorphology.

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

C. Ferreira, A. Gezdirici, P. Arn, 2019, Journal of Medical Genetics.

Successful pregnancies in an adult with Meier‐Gorlin syndrome harboring biallelic CDT1 variants

I. Temple, J. Murray, L. Bicknell, 2020, American journal of medical genetics. Part A.

A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss

A. Pagnamenta, D. Keays, S. Knight, 2012, American journal of medical genetics. Part A.

Edinburgh Research Explorer A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

A. Pagnamenta, S. Knight, Jenny C. Taylor, 2012 .

Exploring microcephaly and human brain evolution

J. Murray, A. Jackson, 2012, Developmental medicine and child neurology.

Non-mosaic trisomy 16 in a near-term child

J. Murray, T. Donlon, C. Kuslich, 1994 .

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Edward S. Miller, T. Blundell, M. van der Burg, 2015, American journal of human genetics.