J. Skaug

发表

Structural variation of chromosomes in autism spectrum disorder.

D. Pinto, L. Feuk, S. Scherer, 2008, American journal of human genetics.

Murine phosphatidylserine-specific phospholipase A1 (Ps-pla1) maps to Chromosome 16 but is distinct from the lpd (lipid defect) locus

L. Tsui, A. Stewart, X. Wen, 2001, Mammalian Genome.

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Thomas Bourgeron, Alberto Segre, Alberto Maria Segre, 2007, Nature Genetics.

The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1.

S. Scherer, J. Vincent, J. Skaug, 2000, DNA research : an international journal for rapid publication of reports on genes and genomes.

Contribution of SHANK3 mutations to autism spectrum disorder.

Christian R Marshall, Wendy Roberts, Dalila Pinto, 2007, American journal of human genetics.

Molecular Basis for Expression of Common and Rare Fragile Sites

S. Scherer, B. Kerem, H. Margalit, 2003, Molecular and Cellular Biology.

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Wendy Roberts, Juha Kere, Lars Feuk, 2006, American journal of human genetics.

Small GTPase Rac1: structure, localization, and expression of the human gene.

S. Scherer, S. Beck, S. Beck, 2000, Biochemical and biophysical research communications.

Contribution of SHANK 3 Mutations to Autism Spectrum Disorder

D. Pinto, S. Scherer, J. Sutcliffe, 2007 .

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5).

S. Scherer, A. Lamhonwah, I. Tein, 2003, Biochemical and biophysical research communications.

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

S. Scherer, Robert H. Brown, M. Hayden, 2001, Nature Genetics.

Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.

S. Scherer, M. Hayden, G. Rouleau, 2001, Genomics.

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

S. Scherer, Robert H. Brown, M. Hayden, 2001, Nature Genetics.

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

S. Scherer, R. Lifton, A. Nayır, 2000, Nature Genetics.

Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.

L. Tsui, R. Hegele, B. Koop, 2003, Human molecular genetics.

p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A.

S. Scherer, J. Skaug, J. Giordano, 1999, Proceedings of the National Academy of Sciences of the United States of America.

cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)

S. Scherer, R. Cancedda, P. Castagnola, 2000, Cytogenetic and Genome Research.

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

J. Brian, W. Roberts, Lili Senman, 2017 .