Dr. Nelson participates in a variety of clinical research focusing on the discovery of underlying molecular mechanism of disease and on the validation of new technologies and assays for implementation in the clinical molecular genetics laboratory.


A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Sinclair GB and van Karnebeek CD and Ester M and Boyd F and Nelson T and Stockler-Ipsiroglu S and Vallance H
DOI: 10.1016/j.ymgme.2016.05.002
PubMed: 27233226

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.
Tucker T and Steinraths M and Oh T and Nelson TN and Van Allen MI and Brown L and Schlade-Bartusiak K
DOI: 10.1097/mcd.0000000000000108
PubMed: 26636500

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K and Hartley T and Adam S and Bernier F and Chong K and Fernandez BA and Friedman JM and Geraghty MT and Hume S and Knoppers BM and Laberge AM and Majewski J and Mendoza-Londono R and Meyn MS and Michaud JL and Nelson TN and Richer J and Sadikovic B and Skidmore DL and Stockley T
DOI: 10.1136/jmedgenet-2015-103144
PubMed: 25951830

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.
Lerner-Ellis J and Wang M and White S and Lebo MS and Canadian Open Genetics Repository Group
DOI: 10.1136/jmedgenet-2014-102933
PubMed: 25904639

CCMG statement on gene patents.
Richer J and Nelson TN and Evans J and Armstrong L and Lauzon J and McGillivray B
DOI: 10.1111/cge.12009
PubMed: 23051176

Uniparental disomy: can SNP array data be used for diagnosis?
Tucker T and Schlade-Bartusiak K and Eydoux P and Nelson TN and Brown L
DOI: 10.1038/gim.2012.35
PubMed: 22538256

CCMG statement on direct-to-consumer genetic testing.
CCMG Ethics and Public Policy Committee and Nelson TN and Armstrong L and Richer J and Evans J and Lauzon J and McGillivray B and Bruyere H and Dougan S
DOI: 10.1111/j.1399-0004.2011.01789.x
PubMed: 21943145

Use of array genomic hybridization technology in prenatal diagnosis in Canada.
Duncan A and Langlois S and SOGC Genetics Committee and CCMG Prenatal Diagnosis Committee
PubMed: 22166281

Alpha1-antitrypsin deficiency: a clinical-genetic overview.
Abboud RT and Nelson TN and Jung B and Mattman A
DOI: 10.2147/tacg.s10604
PubMed: 23776367

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren KW and Severson TM and du Souich C and Stockton DW and Kratz LE and Cunningham D and Hendson G and Morin RD and Wu D and Paul JE and An J and Nelson TN and Chou A and DeBarber AE and Merkens LS and Michaud JL and Waters PJ and Yin J and McGillivray B and Demos M
DOI: 10.1016/j.ajhg.2010.11.004
PubMed: 21129721

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
du Souich C and Chou A and Yin J and Oh T and Nelson TN and Hurlburt J and Arbour L and Friedlander R and McGillivray BC and Tyshchenko N and Rump A and Poskitt KJ and Demos MK and Van Allen MI and Boerkoel CF
DOI: 10.1002/ajmg.a.33071
PubMed: 19842190

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Demos MK and Macri V and Farrell K and Nelson TN and Chapman K and Accili E and Armstrong L
DOI: 10.1002/mds.22467
PubMed: 19205071

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.
Schrader KA and Nelson TN and De Luca A and Huntsman DG and McGillivray BC
DOI: 10.1111/j.1399-0004.2008.01100.x
PubMed: 19054014

V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.
Huculak C and Bruyere H and Nelson TN and Kozak FK and Langlois S
DOI: 10.1002/ajmg.a.31486
PubMed: 17036313

Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion.
Hewitt J and Ballard JN and Nelson TN and Smith VC and Griffiths TA and Pritchard S and Wu JK and Wadsworth LD and Casey B and MacGillivray RT
DOI: 10.1111/j.1365-2141.2004.05296.x
PubMed: 15667541

Stage-specific expression in Leishmania conferred by 3' untranslated regions of L. major leishmanolysin genes (GP63).
Kelly BL and Nelson TN and McMaster WR
DOI: 10.1016/s0166-6851(01)00307-3
PubMed: 11463473