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Book: Genetics and genomics in medicine

Strachan, Tom / Goodship, Judith Anne / Chinnery, Patrick F.

2015

Author's details	Tom Strachan ; Judith Goodship ; Patrick Chinnery
Keywords	Genetic Phenomena ; Genomics ; Genetic Diseases, Inborn / therapy ; Individualized Medicine
Language	English
Size	XVII, 526 S. : Ill., graph. Darst.
Publisher	Garland Science
Publishing place	New York, NYu.a.
Publishing country	United States
Document type	Book
Note	Includes bibliographical references
HBZ-ID	HT018314365
ISBN	978-0-8153-4480-3 ; 0-8153-4480-5
Database	Catalogue ZB MED Medicine, Health

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2014 A 2892	available for loan (reading room)	Lesesaal EG

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Book: Genotype to phenotype

Malcolm, Sue / Goodship, Judith Anne

(The human molecular genetics series)

2001

Author's details	S. Malcolm ; J. Goodship
Series title	The human molecular genetics series
Keywords	Hereditary Diseases / genetics ; Phenotype ; Mutation
Language	English
Size	XVI, 295 S. : Ill., graph. Darst.
Edition	2. ed.
Publisher	BIOS
Publishing place	Oxford
Publishing country	Great Britain
Document type	Book
Old title	1. Aufl. u.d.T. From genotype to phenotype
HBZ-ID	HT013179400
ISBN	1-85996-199-1 ; 978-1-85996-199-5
Database	Catalogue ZB MED Medicine, Health

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2001 A 4956	order for loan	Magazin

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Book: Genetics and genomics in medicine

Strachan, Tom / Chinnery, Patrick / Goodship, Judith

2015

Abstract: Genetics and Genomics in Medicine is a new textbook written for undergraduate and graduate students, as well as medical researchers, which explains the science behind the uses of genetics and genomics in medicine today. It is not just about rare ... ...

Author's details	Tom Strachan; Judith Goodship; Patrick Chinnery
Abstract	"Genetics and Genomics in Medicine is a new textbook written for undergraduate and graduate students, as well as medical researchers, which explains the science behind the uses of genetics and genomics in medicine today. It is not just about rare inherited and chromosomal disorders, but how genetics affects the whole spectrum of human health and disease. DNA technologies are explained, with emphasis on the modern techniques that have revolutionized the use of genetic information in medicine and are indicating the role of genetics in common complex diseases. The detailed, integrative coverage of genetic approaches to treatment and prevention includes pharmacogenomics and the prospects for personalized medicine. Cancers are essentially genetic diseases and are given a dedicated chapter that includes new insights from cancer genome sequencing. Clinical disorders are covered throughout and there are extensive end-of-chapter questions and problems"--
MeSH term(s)	Genetic Diseases, Inborn/therapy ; Genetic Phenomena ; Genomics ; Individualized Medicine
Language	English
Size	XVII, 526 S., Ill., graph. Darst.
Publisher	Garland Science
Publishing place	New York, NY u.a.
Document type	Book
Note	Literaturangaben
ISBN	9780815344803 ; 0815344805
Database	Former special subject collection: coastal and deep sea fishing

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Article ; Online: Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Ruiz-Perez, Victor L / Goodship, Judith A

American journal of medical genetics. Part C, Seminars in medical genetics

2009 Volume 151C, Issue 4, Page(s) 341–351

Abstract: Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; ... ...

Abstract	Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, nail dysplasia, and orofacial abnormalities. EvC results from loss-of-function mutations in EVC or EVC2, the phenotype associated with the mutations in these two genes being indistinguishable. Three convincing causative mutations have been identified in patients with Weyers acrodental dysostosis, which are clustered in the last coding exon of EVC2 and lead to production of a truncated protein lacking the final 43 amino acids. Localization and function of EVC and EVC2 are inferred from studying the murine orthologs. Both Evc and Evc2 proteins localize to the basal bodies of primary cilia and analysis of an Ellis-van Creveld mouse model, which includes the limb shortening and tooth abnormalities of EvC patients, has demonstrated Hedgehog signaling defects in the absence of Evc. The loss of Evc2 has not been studied directly, but Hedgehog signaling is impaired when a mutant murine Evc2 Weyer variant is expressed in vitro. We conclude that the phenotypic abnormalities in EvC and Weyers syndrome result from tissue specific disruption of the response to Hh ligands.
MeSH term(s)	Animals ; Cilia/physiology ; Dysostoses/diagnosis ; Dysostoses/diagnostic imaging ; Dysostoses/genetics ; Ellis-Van Creveld Syndrome/diagnosis ; Ellis-Van Creveld Syndrome/diagnostic imaging ; Ellis-Van Creveld Syndrome/genetics ; Exons ; Female ; Genes, Recessive ; Genotype ; Hedgehog Proteins/metabolism ; Humans ; Ligands ; Male ; Mice ; Models, Biological ; Mutation ; Phenotype ; Radiography
Chemical Substances	Hedgehog Proteins ; Ligands
Language	English
Publishing date	2009-11-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.30226
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

Adam, Jennifer / Browning, Andrew C / Vaideanu, Daniela / Heidet, Laurence / Goodship, Judith A / Sayer, John A

Clinical kidney journal

2013 Volume 6, Issue 4, Page(s) 410–413

Abstract: Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription factor PAX2. We present three generations of a family ... ...

Abstract	Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription factor PAX2. We present three generations of a family with a PAX2 mutation who showed variable eye and renal phenotypes. Renal phenotypes ranged from normal kidneys with the absence of proteinuria to end-stage renal disease (ESRD) at 17 years of age. Eye phenotypes included the typical morning glory anomaly, macular retinal pigment epithelial changes and retinal venous tortuosity. We identified a PAX2 mutation c.228_251dup [p.Ser77_Gly84dup] which segregated with the phenotype in an autosomal dominant fashion. A molecular genetic diagnosis allowed identification and management of at-risk family members. Given the phenotypic variability, clinicians need to consider the possibility of RCS in patients with a family history of chronic kidney disease (CKD) or eye disease.
Language	English
Publishing date	2013-06-23
Publishing country	England
Document type	Journal Article
ZDB-ID	2655800-2
ISSN	2048-8513 ; 2048-8505
ISSN (online)	2048-8513
ISSN	2048-8505
DOI	10.1093/ckj/sft058
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Article ; Online: Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation.

Howey, Richard / Mamasoula, Chrysovalanto / Töpf, Ana / Nudel, Ron / Goodship, Judith A / Keavney, Bernard D / Cordell, Heather J

American journal of human genetics

2015 Volume 97, Issue 3, Page(s) 419–434

Abstract: Parent-of-origin (or imprinting) effects relate to the situation in which traits are influenced by the allele inherited from only one parent and the allele from the other parent has little or no effect. Given SNP genotype data from case-parent trios, the ...

Abstract	Parent-of-origin (or imprinting) effects relate to the situation in which traits are influenced by the allele inherited from only one parent and the allele from the other parent has little or no effect. Given SNP genotype data from case-parent trios, the parent of origin of each allele in the offspring can often be deduced unambiguously; however, this is not true when all three individuals are heterozygous. Most existing methods for investigating parent-of-origin effects operate on a SNP-by-SNP basis and either perform some sort of averaging over the possible parental transmissions or else discard ambiguous trios. If the correct parent of origin at a SNP could be determined, this would provide extra information and increase the power for detecting the effects of imprinting. We propose making use of the surrounding SNP information, via haplotype estimation, to improve estimation of parent of origin at a test SNP for case-parent trios, case-mother duos, and case-father duos. This extra information is then used in a multinomial modeling approach for estimating parent-of-origin effects at the test SNP. We show through computer simulations that our approach has increased power over previous approaches, particularly when the data consist only of duos. We apply our method to two real datasets and find a decrease in significance of p values in genomic regions previously thought to possibly harbor imprinting effects, thus weakening the evidence that such effects actually exist in these regions, although some regions retain evidence of significant effects.
MeSH term(s)	Computer Simulation ; Genomic Imprinting/genetics ; Genotype ; Haplotypes/genetics ; Humans ; Likelihood Functions ; Models, Genetic ; Polymorphism, Single Nucleotide/genetics
Language	English
Publishing date	2015-08-27
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2015.07.016
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.

Montgomery, Emma / Sayer, John A / Baines, Laura A / Hynes, Ann Marie / Vega-Warner, Virginia / Johnson, Sally / Goodship, Judith A / Otto, Edgar A

BMC medical genetics

2015 Volume 16, Page(s) 35

Abstract: Background: Imerslund-Gräsbeck Syndrome (IGS) is a rare autosomal recessive disease characterized by intestinal vitamin B12 malabsorption. Clinical features include megaloblastic anemia, recurrent infections, failure to thrive, and proteinuria. ... ...

Abstract	Background: Imerslund-Gräsbeck Syndrome (IGS) is a rare autosomal recessive disease characterized by intestinal vitamin B12 malabsorption. Clinical features include megaloblastic anemia, recurrent infections, failure to thrive, and proteinuria. Recessive mutations in cubilin (CUBN) and in amnionless (AMN) have been shown to cause IGS. To date, there are only about 300 cases described worldwide with only 37 different mutations found in CUBN and 30 different in the AMN gene. Case presentation: We collected pedigree structure, clinical data, and DNA samples from 2 Caucasian English half-sisters with IGS. Molecular diagnostics was performed by direct Sanger sequencing of all 62 exons of the CUBN gene and 12 exons of the AMN gene. Because of lack of parental DNA, cloning, and sequencing of multiple plasmid clones was performed to assess the allele of identified mutations. Genetic characterization revealed 2 novel compound heterozygous AMN mutations in both half-sisters with IGS. Trans-configuration of the mutations was confirmed. Conclusion: We have identified novel compound heterozygous mutations in AMN in a family from the United Kingdom with clinical features of Imerslund-Gräsbeck Syndrome.
MeSH term(s)	Adult ; Anemia, Megaloblastic ; Female ; Heterozygote ; Humans ; Malabsorption Syndromes/genetics ; Male ; Pedigree ; Pregnancy ; Proteins/genetics ; Proteinuria/genetics ; Siblings ; Vitamin B 12 Deficiency/genetics
Chemical Substances	AMN protein, human ; Proteins
Language	English
Publishing date	2015-06-04
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1471-2350
ISSN (online)	1471-2350
DOI	10.1186/s12881-015-0181-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.

Moss, Joanna / Penhallow, Jessica / Ansari, Morad / Barton, Stephanie / Bourn, David / FitzPatrick, David R / Goodship, Judith / Hammond, Peter / Roberts, Catherine / Welham, Alice / Oliver, Chris

American journal of medical genetics. Part A

2017 Volume 173, Issue 6, Page(s) 1566–1574

Abstract: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or ... ...

Abstract	Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex have been identified in up to 70% of individuals. Genetic cause remains unknown for a proportion of individuals. There is substantial heterogeneity in all aspects of CdLS but very little is known about what predicts phenotypic heterogeneity. In this study, we evaluated genotype-phenotype associations in 34 individuals with CdLS. Participants with NIPBL mutations had significantly lower self help skills and were less likely to have verbal skills relative to those who were negative for the NIPBL mutation. No significant differences were identified between the groups in relation to repetitive behavior, mood, interest and pleasure, challenging behavior, activity, impulsivity, and characteristics of autism spectrum disorder whilst controlling differences in self help skills. Significant correlations indicating lower mood, interest and pleasure, and increased insistence on sameness with older age were identified for those who were NIPBL mutation positive. The findings suggest similarities in the behavioral phenotype between those with and without the NIPBL mutation once differences in self help skills are controlled for. However, there may be subtle differences in the developmental trajectory of these behaviors according to genetic mutation status in CdLS.
MeSH term(s)	Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/physiopathology ; Cell Cycle Proteins ; De Lange Syndrome/genetics ; De Lange Syndrome/physiopathology ; Exome/genetics ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Mutation ; Phenotype ; Proteins/genetics
Chemical Substances	Cell Cycle Proteins ; NIPBL protein, human ; Proteins
Language	English
Publishing date	2017-04-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.38228
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Cilia and disease.

Eley, Lorraine / Yates, Laura M / Goodship, Judith A

Current opinion in genetics & development

2005 Volume 15, Issue 3, Page(s) 308–314

Abstract: Cilia are classified according to their microtubule components as 9+2 (motile) and 9+0 (primary) cilia. Disruption of 9+2 cilia, which move mucus across respiratory epithelia, leads to rhinitis, sinusitis and bronchiectasis. Approximately half of the ... ...

Abstract	Cilia are classified according to their microtubule components as 9+2 (motile) and 9+0 (primary) cilia. Disruption of 9+2 cilia, which move mucus across respiratory epithelia, leads to rhinitis, sinusitis and bronchiectasis. Approximately half of the patients with primary ciliary dyskinesia (PCD) have situs inversus, providing a link between left-right asymmetry and cilia. 9+0 cilia at the embryonic node are also motile and involved in establishing left-right asymmetry. Most 9+0 cilia, however, act as antennae, sensing the external environment. Defective 9+0 cilia of principal cells of the nephron cause cystic diseases of the kidney. In the rods and cones of the retina, photoreceptor discs and visual pigments are synthesized in the inner segment and transported to the distal outer segment through a narrow 9+0 connecting cilium; defects in this process lead to retinitis pigmentosa. Although the function of primary cilia in some organs is being elucidated, in many other organs they have not been studied at all. It is probable that many more cilia-related disorders remain to be discovered.
MeSH term(s)	Animals ; Biological Transport ; Body Patterning ; Cilia/metabolism ; Cilia/pathology ; Disease ; Flagella/metabolism ; Flagella/pathology ; Humans
Language	English
Publishing date	2005-06
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1077312-5
ISSN	1879-0380 ; 0959-437X
ISSN (online)	1879-0380
ISSN	0959-437X
DOI	10.1016/j.gde.2005.04.008
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Article ; Online: Using population data for assessing next-generation sequencing performance.

Houniet, Darren T / Rahman, Thahira J / Al Turki, Saeed / Hurles, Matthew E / Xu, Yaobo / Goodship, Judith / Keavney, Bernard / Santibanez Koref, Mauro

Bioinformatics (Oxford, England)

2014 Volume 31, Issue 1, Page(s) 56–61

Abstract: Motivation: During the past 4 years, whole-exome sequencing has become a standard tool for finding rare variants causing Mendelian disorders. In that time, there has also been a proliferation of both sequencing platforms and approaches to analyse their ... ...

Abstract	Motivation: During the past 4 years, whole-exome sequencing has become a standard tool for finding rare variants causing Mendelian disorders. In that time, there has also been a proliferation of both sequencing platforms and approaches to analyse their output. This requires approaches to assess the performance of different methods. Traditionally, criteria such as comparison with microarray data or a number of known polymorphic sites have been used. Here we expand such approaches, developing a maximum likelihood framework and using it to estimate the sensitivity and specificity of whole-exome sequencing data. Results: Using whole-exome sequencing data for a panel of 19 individuals, we show that estimated sensitivity and specificity are similar to those calculated using microarray data as a reference. We explore the effect of frequency misspecification arising from using an inappropriately selected population and find that, although the estimates are affected, the rankings across procedures remain the same. Availability and implementation: An implementation using Perl and R can be found at busso.ncl.ac.uk (Username: igm101; Password: Z1z1nts).
MeSH term(s)	Algorithms ; Computational Biology/methods ; Exome/genetics ; Genetic Variation/genetics ; Genetics, Population ; Genome, Human ; Genome-Wide Association Study ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Sample Size
Language	English
Publishing date	2014-09-17
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1422668-6
ISSN	1367-4811 ; 1367-4803
ISSN (online)	1367-4811
ISSN	1367-4803
DOI	10.1093/bioinformatics/btu606
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