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1
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.

von Jones, A-B ; Pichert, G ; Side, L ; et al.

Schlagworte: Humans; Male; Female; United Kingdom; Whole Genome Sequencing; Middle Aged; Germ-Line Mutation; Adult; Genetic Testing; Feasibility Studies; Genetic Predisposition to Disease; Aged; Private Practice; General Practice
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2
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3
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

von Ardern-Jones, A. ; Adlard, J. ; Ahmed, M. ; et al.

In Annals of Oncology December 2022 33(12):1318-1327
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4
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

von Marie Bernkopf ; Ummi B. Abdullah ; Stephen J. Bush ; et al.

Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)

Schlagworte: Science
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5
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

von Guimier, Anne ; Achleitner, Melanie T. ; Moreau de Bellaing, Anne ; et al.

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(12):2415-2425
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6
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

von Fitzgerald, T.W. ; Gerety, S.S. ; Jones, W.D. ; et al.

In The American Journal of Human Genetics 7 November 2019 105(5):933-946
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7
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.

von Meroni, A ; Kalantari, S ; Arossa, A ; et al.
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8
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

von Ververi, A ; Zagaglia, S ; Menzies, L ; et al.
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9
Enhancement of fetal phenotyping in the investigation of the fetus using next-generation sequencing

von Mone, F. ; Homfray, T. ; Kagan, Ko. ; et al.

Mone, F, Homfray, T, Kagan, K & Kilby, M D 2023, 'Enhancement of fetal phenotyping in the investigation of the fetus using next-generation sequencing', Ultrasound in Obstetrics & Gynecology. https://doi.org/10.1002/uog.26301
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10
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

von Loveday C ; Garrett A ; Law P ; et al.

Annals of Oncology, 2022
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11
Expanding the phenotype of TAB2 variants and literature review

von Woods E ; Marson I ; Coci E ; et al.

American Journal of Medical Genetics, Part A, 2022
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12
Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up

von Mathers, JC ; Elliott, F ; Macrae, F ; et al.
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13
Arrhythmogenic cardiomyopathy and differential diagnosis with physiological right ventricular remodelling in athletes using cardiovascular magnetic resonance

von Moccia, E ; Papatheodorou, E ; Miles, CJ ; et al.

International Journal of Cardiovascular Imaging , 38 (12) pp. 2723-2732. (2022)

Schlagworte: Arrhythmogenic cardiomyopathy; Athlete’s heart; Cardiac magnetic resonance
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14
Expanding the phenotype of TAB2 variants and literature review.

von Woods, E ; Marson, I ; Coci, E ; et al.
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15
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.

von Wai, HA ; Constable, M ; Drewes, C ; et al.
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16
Expanding the phenotype of TAB2 variants and literature review

von Woods, E. ; Marson, I. ; Coci, E. ; et al.
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17
The contribution of X-linked coding variation to severe developmental disorders

von Martin HC ; Gardner EJ ; Samocha KE ; et al.

Nature Communications, December 2021
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18
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

von Schänzer, A ; Achleitner, MT ; Trümbach, D ; et al.
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19
Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing ( FIND) study: prospective cohort study and meta‐analysis

von Mone, F. ; Eberhardt, R. Y. ; Hurles, M. E. ; et al.

Ultrasound in Obstetrics & Gynecology ; volume 58, issue 4, page 509-518 ; ISSN 0960-7692 1469-0705
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20
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

von Gunning, AC ; Strucinska, K ; Muñoz Oreja, M ; et al.

The American Journal of Human Genetics , 106 (2) pp. 272-279. (2020)

Schlagworte: ATAD3; ATAD3 gene cluster; Harel-Yoon; NAHR; cardiomyopathy; cholesterol; metabolic disorder; mitochondrial DNA; non-allelic homologous recombination
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21
Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis.

von Sileo, FG ; Kulkarni, A ; Branescu, I ; et al.
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22
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

von Pemberton, L ; Barker, R ; Cockell, A ; et al.
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23
Non‐immune fetal hydrops: etiology and outcome according to gestational age at diagnosis

von Sileo, F. G. ; Kulkarni, A. ; Branescu, I. ; et al.

Ultrasound in Obstetrics & Gynecology ; volume 56, issue 3, page 416-421 ; ISSN 0960-7692 1469-0705
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24
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

von Lord J ; McMullan DJ ; Eberhardt RY ; et al.

The Lancet, 23 February - 1 March 2019
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25
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

von Aitken S ; Firth HV ; McRae J ; et al.

American Journal of Human Genetics, 7 November 2019
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