Williams C

Title : Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy -

Author(s) : Williams C , Jiang YH , Shashi V , Crimian R , Schoch K , Harper A , McHale D , Goldstein D , Petrovski S

Ref : Clin Genet , 88 :597 , 2015

PubMedID: 25823418

Title : Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions - Schaaf_2012_Eur.J.Hum.Genet_20_1240

Author(s) : Schaaf CP , Boone PM , Sampath S , Williams C , Bader PI , Mueller JM , Shchelochkov OA , Brown CW , Crawford HP , Phalen JA , Tartaglia NR , Evans P , Campbell WM , Tsai AC , Parsley L , Grayson SW , Scheuerle A , Luzzi CD , Thomas SK , Eng PA , Kang SH , Patel A , Stankiewicz P , Cheung SW

Ref : Eur J Hum Genet , 20 :1240 , 2012

Abstract : Schaaf_2012_Eur.J.Hum.Genet_20_1240

ESTHER : Schaaf_2012_Eur.J.Hum.Genet_20_1240

PubMedSearch : Schaaf_2012_Eur.J.Hum.Genet_20_1240

PubMedID: 22617343

Title : The genome of the green anole lizard and a comparative analysis with birds and mammals - Alfoldi_2011_Nature_477_587

Author(s) : Alfoldi J , Di Palma F , Grabherr M , Williams C , Kong L , Mauceli E , Russell P , Lowe CB , Glor RE , Jaffe JD , Ray DA , Boissinot S , Shedlock AM , Botka C , Castoe TA , Colbourne JK , Fujita MK , Moreno RG , ten Hallers BF , Haussler D , Heger A , Heiman D , Janes DE , Johnson J , de Jong PJ , Koriabine MY , Lara M , Novick PA , Organ CL , Peach SE , Poe S , Pollock DD , de Queiroz K , Sanger T , Searle S , Smith JD , Smith Z , Swofford R , Turner-Maier J , Wade J , Young S , Zadissa A , Edwards SV , Glenn TC , Schneider CJ , Losos JB , Lander ES , Breen M , Ponting CP , Lindblad-Toh K

Ref : Nature , 477 :587 , 2011

Abstract : Alfoldi_2011_Nature_477_587

ESTHER : Alfoldi_2011_Nature_477_587

PubMedSearch : Alfoldi_2011_Nature_477_587

PubMedID: 21881562

Gene_locus related to this paper: anoca-h9g670 , anoca-h9g675 , anoca-h9g680 , anoca-h9gbf2 , anoca-h9gl37 , anoca-h9gq07 , anoca-h9gqa2 , anoca-h9gqv4 , anoca-h9gr08 , anoca-h9glr3 , anoca-h9gfq0 , anoca-h9gfy1 , anoca-h9g7n4 , anoca-h9gpa2 , anoca-h9g3p8

Title : Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome - Maselli_2009_J.Med.Genet_46_203

Author(s) : Maselli RA , Ng JJ , Anderson JA , Cagney O , Arredondo J , Williams C , Wessel HB , Abdel-Hamid H , Wollmann RL

Ref : Journal of Medical Genetics , 46 :203 , 2009

Abstract : Maselli_2009_J.Med.Genet_46_203

ESTHER : Maselli_2009_J.Med.Genet_46_203

PubMedSearch : Maselli_2009_J.Med.Genet_46_203

PubMedID: 19251977

Title : Acetobacter turbidans alpha-amino acid ester hydrolase: how a single mutation improves an antibiotic-producing enzyme - Barends_2006_J.Biol.Chem_281_5804

Author(s) : Barends TR , Polderman-Tijmes JJ , Jekel PA , Williams C , Wybenga G , Janssen DB , Dijkstra BW

Ref : Journal of Biological Chemistry , 281 :5804 , 2006

Abstract : Barends_2006_J.Biol.Chem_281_5804

ESTHER : Barends_2006_J.Biol.Chem_281_5804

PubMedSearch : Barends_2006_J.Biol.Chem_281_5804

PubMedID: 16377627

Gene_locus related to this paper: acepa-AEHA

Williams C

General

References (5)

Williams C

General

References (5)

1. Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy

2. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions

3. The genome of the green anole lizard and a comparative analysis with birds and mammals

4. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

5. Acetobacter turbidans alpha-amino acid ester hydrolase: how a single mutation improves an antibiotic-producing enzyme