S. Zwolinski

发表

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis

David Haussler, Colleen M. Bosworth, Adam M. Novak, 2018, Cell.

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

Colin A. Johnson, J. Al-Aama, S. Mehrotra, 2018, Nature Communications.

Deposited in DRO : 25 October 2018 Version of attached le : Published Version Peer-review status of attached

Colin A. Johnson, J. Al-Aama, S. Mehrotra, 2018 .

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

J. Hoffman, G. Mandrile, F. Faravelli, 2013, European journal of medical genetics.

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission

M. Santibanez-Koref, J. Burn, P. Brennan, 2019, Journal of the American Academy of Dermatology.

Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay

S. Lynch, S. Hellens, S. Zwolinski, 2015, American journal of medical genetics. Part A.

Immortalisation of human ovarian surface epithelium with telomerase and temperature-sensitive SV40 large T antigen.

B. Davies, M. O'hare, G. Saretzki, 2003, Experimental cell research.

Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.

J. Burn, S. Lynch, S. Zwolinski, 1995, Journal of medical genetics.

A novel link between keratoderma and cardiomyopathy: contiguous gene deletion involving the desmoglein gene cluster

P. Brennan, S. Zwolinski, N. Rajan, 2017, The British journal of dermatology.

Huriez syndrome caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1

B. Venkatesh, B. Reversade, S. Zwolinski, 2021, The British journal of dermatology.

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect

E. Selkirk, I. Simonic, S. Mehta, 2010, American journal of medical genetics. Part A.

Interstitial microduplication 12q13.2–q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf–Hirschhorn syndrome

S. Hellens, M. Wright, S. Zwolinski, 2012, Clinical dysmorphology.

Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization

M. Santibanez-Koref, P. Chinnery, R. Horvath, 2013, Journal of neurogenetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?

S. Hellens, M. Splitt, S. Zwolinski, 2012, Clinical dysmorphology.

Neurogenic properties and a clinical relevance of multipotent stem cells derived from cord blood samples stored in the biobanks.

Marcin Jurga, Andrew J Trevelyan, A. Trevelyan, 2012, Stem cells and development.

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH

Shuwen Huang, V. Maloney, J. Barber, 2008, European Journal of Human Genetics.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Human-specific NOTCH-like genes in a region linked to neurodevelopmental disorders affect cortical neurogenesis

Colleen M. Bosworth, Adam M. Novak, Ian T. Fiddes, 2017, bioRxiv.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Non-locus-specific polygenes giving responses to selection for gene conversion frequencies in Ascobolus immersus.

S. Zwolinski, B. C. Lamb, 1995, Genetics.