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1
‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandemic in the UK

von Wolstencroft, J ; Hull, L ; Warner, L ; et al.
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2
Psychopathology in mothers of children with pathogenic Copy Number Variants

von Niarchou, M ; Cunningham, AC ; Chawner, SJRA ; et al.
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3
Variation in the reported prevalence of Huntington’s disease: a systematic review and guide to interpretation

von Thompson, A. ; Quarrell, O. ; Strong, M.
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4
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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5
Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families

von Kotta M. -C. ; Torchio M. ; Bayliss P. ; et al.

Schlagworte: channelopathie; molecular autopsy; sudden infant death syndrome; sudden unexplained death in childhood
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6
Popular press portrayal of issues surrounding free‐roaming domestic cats Felis catus

von Elizabeth A. Gow ; Joseph B. Burant ; Alex O. Sutton ; et al.

People and Nature, Vol 4, Iss 1, Pp 143-154 (2022)

Schlagworte: animal welfare; conservation; feral cat; free‐ranging cat; media content analysis; outdoor cat; Human ecology. Anthropogeography; GF1-900; Ecology; QH540-549.5
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7
Prevalence and incidence of Huntington’s disease

von Strong, M. ; Quarrell, O.
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8
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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9
Predictive genetic testing for motor neuron disease : time for a guideline?

von McNeill, A. ; Amador, M.-D.-M. ; Bekker, H. ; et al.
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10
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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11
Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families

von Kotta, M ; Torchio, M ; Bayliss, P ; et al.

Schlagworte: channelopathie; molecular autopsy; sudden infant death syndrome; sudden unexplained death in childhood; info:eu-repo/semantics/article
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12
TARGETED NEXT-GENERATION SEQUENCING ANALYSIS OF 1,000 INDIVIDUALS WITH INTELLECTUAL DISABILITY

von Grozeva D ; Carss K ; Spasic Boskovic O ; et al.

Schlagworte: SETD5; ATRX; CUL4B; MECP2
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13
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

von Metzger S ; Walter C ; Riess O ; et al.

Schlagworte: Huntington; V471A polymorphism; gene ATG7
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14
Prevalence and architecture of de novo mutations in developmental disorders

von McRae, JF ; Clayton, S ; Fitzgerald, TW ; et al.

Nature , 542 pp. 433-438. (2017)
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15
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

von Evans DG ; Bowers N ; Burkitt-Wright E ; et al.

EBioMedicine, 1 May 2016
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16
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

von McRae, JF ; Clayton, S ; Fitzgerald, TW ; et al.
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17
Responding to the increased genetic risk associated with customary consanguineous marriage among minority ethnic populations: lessons from local innovations in England.

von Salway, S. ; Ali, P. ; Ratcliffe, G. ; et al.
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18
Characterization of Gastric Mucosa Biopsies Reveals Alterations in Huntington's Disease

von McCourt, AC ; O'Donovan, KL ; Ekblad, E ; et al.

PLOS Currents: Huntington Disease (2015)
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19
D02 Discrepancies in reporting the upper CAG repeat allele between a central EHDN and local laboratories for centres participating in the REGISTRY project

von Quarrell, O W J ; Dumoulin, C ; Handley, O ; et al.

Schlagworte: EHDN Plenary Meeting: abstracts
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20
Predictive genetic testing for Motor neuron disease: time for a guideline?

von McNeill, A ; Amador, M-D-M ; Bekker, H ; et al.

Schlagworte: 0604 Genetics, 1103 Clinical Sciences; Journal Article
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21
Opposite effects on facial morphology due to gene dosage sensitivity.

von Hammond, P ; McKee, S ; Suttie, M ; et al.

Hum Genet , 133 (9) pp. 1117-1125. (2014)
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22
K06 Uptake of Predictive Tests for Huntington's Disease (HD) in the UK 1993-2012

von Quarrell, O. ; Rosser, E. ; Taverner, N. ; et al.

Journal of Neurology, Neurosurgery & Psychiatry ; volume 85, issue Suppl 1, page A80-A81 ; ISSN 0022-3050
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23
Doing the right thing for one's children: deciding whether to take the genetic test for Huntington's disease as a moral dilemma

von Smith, JA ; Stephenson, M ; Jacobs, C ; et al.

Clinical Genetics ; volume 83, issue 5, page 417-421 ; ISSN 0009-9163 1399-0004
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24
Cell‐free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion

von Searle, C. J. ; Smith, K. ; Daniels, G. ; et al.

Prenatal Diagnosis ; volume 33, issue 6, page 612-613 ; ISSN 0197-3851 1097-0223
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25
A03 Juvenile Huntington's disease

von Quarrell, O

Schlagworte: Oral presentations
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