M. Greally

发表

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2013, Journal of Medical Genetics.

Shprintzen-Goldberg syndrome

M. Greally, Shprintzen-Goldberg, 2020, Definitions.

Shprintzen-Goldberg syndrome: a clinical analysis.

R. Shprintzen, D. Milewicz, J. Carey, 1998, American journal of medical genetics.

laxa, Debré type Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis

H. Kayserili, W. Dobyns, E. Seemanová, 2009 .

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type

S. Mundlos, H. Kayserili, W. Dobyns, 2008, Neurology.

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

J. Schuurs-Hoeijmakers, J. Conroy, S. Ennis, 2014, Nature Genetics.

EXPERIMENTAL IUGR INDUCES ALTERATIONS IN DNA METHYLATION AND GENE EXPRESSION IN PANCREATIC ISLETS OF RATS

Reid F. Thompson, N. Barzilai, M. Fazzari, 2010 .

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

D. Sillence, A. Munnich, J. Clayton-Smith, 2012, Human mutation.

KBG syndrome mimicking genetic generalized epilepsy

D. Costello, N. McSweeney, M. Greally, 2022, Epilepsy & behavior reports.

Mosaicism for Deletion 15q11q13 in Sporadic and Familial Cases

S. Patil, T. Donlon, J. Hanson, 1992 .

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

T. Rosenberg, J. Heckenlively, D. Birch, 2016, Scientific Reports.

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

S. Krane, P. Byers, R. Matalon, 1997, American journal of medical genetics.

Loss-of-function mutations in ATP 6 V 0 A 2 impair vesicular trafficking , tropoelastin secretion and cell survival

Abuelo, Björn, J. Al-Aama, 2009 .

De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay

Colm R. Breathnach, C. McMahon, D. Betts, 2015, American journal of medical genetics. Part A.

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Colin A. Johnson, J. Tolmie, H. Brunner, 2006, American journal of human genetics.

De novo interstitial deletion 2q14.1q22.1: Is there a recognizable phenotype?

J. Crolla, N. Allen, D. O'Donovan, 2014, American journal of medical genetics. Part A.

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

J. Kurtzberg, N. Delanty, C. Wolf, 2022, American journal of medical genetics. Part A.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

C. Steward, H. Kearney, G. Cavalleri, 2020, European Journal of Human Genetics.

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

A. Buske, L. Graul-Neumann, C. Kubisch, 2013, BMJ Open.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

C. Steward, H. Kearney, G. Cavalleri, 2020, European Journal of Human Genetics.

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

J. Clayton-Smith, V. Ricotti, S. McKee, 2008, Journal of Medical Genetics.

Germline mosaicism in a family with MBD5 haploinsufficiency

G. Cavalleri, N. Delanty, M. White, 2022, Cold Spring Harbor molecular case studies.

Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia.

R. Williamson, T. Jewett, M. Greally, 1993, American journal of medical genetics.

On the significance of lymphoid cell infiltration in hypernephromas

J. Greally, M. Greally, E. Kiely, 1972, Irish journal of medical science.

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers‐Danlos syndrome by its dermatological manifestations: Report of three affected patients

U. Kornak, L. Van Maldergem, N. Kalis, 2014, American journal of medical genetics. Part A.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

B. Fernandez, J. Al-Aama, S. Mundlos, 2009, Human molecular genetics.

'Pseudocirrhosis' in hereditary haemorrhagic telangiectasia.

E. Sweeney, R. Coll, M. Greally, 1977, Journal of clinical pathology.

Shprintzen-Goldberg syndrome: a clinical analysis.

R. Shprintzen, D. Milewicz, J. Hanson, 1998, American journal of medical genetics.

Shprintzen-Goldberg Syndrome

M. Greally, 2013 .

Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care

G. Cavalleri, N. Delanty, C. Doherty, 2019, Epilepsia.

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers‐Danlos syndrome by its dermatological manifestations: Report of three affected patients

U. Kornak, L. Van Maldergem, N. Kalis, 2014, American journal of medical genetics. Part A.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

B. Fernandez, J. Al-Aama, S. Mundlos, 2009, Human molecular genetics.

Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries

C. McMahon, C. Morgan, M. Greally, 2014, Cardiology in the Young.