Structural Variation of Chromosomes in Autism Spectrum Disorder

Christian R. Marshall, Abdul Noor, John B. Vincent, +31

The American Journal of Human Genetics

ChromatinStructural VariationSyndromic AutismGeneticsMolecular Biology +3

Contribution of SHANK3 Mutations to Autism Spectrum Disorder

Rainald Moessner, Christian R. Marshall, James S. Sutcliffe, +8

The American Journal of Human Genetics

Neurodevelopmental DisordersSyndromic AutismGenetic DisorderGeneticsFragile X Spectrum +3

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

Collette K. Hand, Hitoshi Osuga, Yoshiko Yanagisawa, +17

Nature Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisGeneticsExperimental NeuropathologyPutative Gtpase Regulator +5

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

Annabel N. Smith, Jennifer Skaug, Keith A. Choate, +8

Nature Genetics

PhysiologyMolecular BiologyIon ChannelsPreserved HearingMedicine +2

Molecular Basis for Expression of Common and Rare Fragile Sites

Eitan Zlotorynski, Ayelet Rahat, Jennifer Skaug, +7

Molecular and Cellular Biology

GeneticsRare Fragile SitesGenomic MechanismMolecular BiologyMolecular Genetics +16

Human Chromosome 7: DNA Sequence and Biology

Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, +87

Science

DnaCytogeneticsGeneticsMolecular BiologyHigher Order Description +22

Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

Lars Feuk, Aino Kalervo, Marita Lipsanen‐Nyman, +20

The American Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +6

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

Sam J. Mansour, Jennifer Skaug, Xinhua Zhao, +3

Proceedings of the National Academy of Sciences

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

Anne‐Marie Lamhonwah, Jennifer Skaug, Stephen W. Scherer, +1

Biochemical and Biophysical Research Communications

Disease LocusBiochemistryCrohn ’Gastrointestinal PharmacologyMedicine +6

Small GTPase Rac1: Structure, Localization, and Expression of the Human Gene

Paulo Matos, Jennifer Skaug, Bárbara Marques, +6

Biochemical and Biophysical Research Communications

Protein FunctionSignal TransductionMolecular RegulationNatural SciencesGenetics +8