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Stephen Scherer

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Anatomy

Chromosomes, Human, Pair 7

Concepts & Ideas

Procedures

Chemicals & Drugs

Genes & Molecular Sequences

Disorders

Living Beings

Mice

Physiology

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Publications

TOP 3
Horike Shin-Ichi; Ferreira Jose Carlos P; Meguro-Horike Makiko; Choufani Sanaa; Smith Adam C; Shuman Cheryl; Meschino Wendy; Chitayat David; Zackai Elaine; Scherer Stephen W; Weksberg Rosanna
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
Vincent John B; Noor Abdul; Windpassinger Christian; Gianakopoulos Peter J; Schwarzbraun Thomas; Alfred Simon E; Stachowiak Beata; Scherer Stephen W; Roberts Wendy; Wagner Klaus; Kroisel Peter M; Petek Erwin
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
Carson Andrew R; Scherer Stephen W
Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million years.

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All Publications

2009: Horike Shin-Ichi; Ferreira Jose Carlos P; Meguro-Horike Makiko; Choufani Sanaa; Smith Adam C; Shuman Cheryl; Meschino Wendy; Chitayat David; Zackai Elaine; Scherer Stephen W; Weksberg Rosanna
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
American journal of medical genetics. Part A 2009;149A(11):2415-23.
2009: Vincent John B; Noor Abdul; Windpassinger Christian; Gianakopoulos Peter J; Schwarzbraun Thomas; Alfred Simon E; Stachowiak Beata; Scherer Stephen W; Roberts Wendy; Wagner Klaus; Kroisel Peter M; Petek Erwin
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(6):817-26.
2009: Carson Andrew R; Scherer Stephen W
Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million years.
BMC evolutionary biology 2009;9():156.
2008: Parker-Katiraee Layla; Bousiaki Eleni; Monk David; Moore Gudrun E; Nakabayashi Kazuhiko; Scherer Stephen W
Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues.
Human molecular genetics 2008;17(21):3263-70.
2008: Buchanan Janet A; Scherer Stephen W
Contemplating effects of genomic structural variation.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(9):639-47.
2008: Shlien Adam; Tabori Uri; Marshall Christian R; Pienkowska Malgorzata; Feuk Lars; Novokmet Ana; Nanda Sonia; Druker Harriet; Scherer Stephen W; Malkin David
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(32):11264-9.
2008: Monk David; Wagschal Alexandre; Arnaud Philippe; Müller Pari-Sima; Parker-Katiraee Layla; Bourc'his Déborah; Scherer Stephen W; Feil Robert; Stanier Philip; Moore Gudrun E
Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing.
Genome research 2008;18(8):1270-81.
2008: Tam Elaine; Young Edwin J; Morris Colleen A; Marshall Christian R; Loo Wayne; Scherer Stephen W; Mervis Carolyn B; Osborne Lucy R
The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
American journal of medical genetics. Part A 2008;146A(14):1797-806.
2008: Vincent John B; Choufani Sanaa; Horike Shin-ichi; Stachowiak Beata; Li Martin; Dill Fred J; Marshall Christian; Hrynchak Monica; Pewsey Elizabeth; Ukadike Kennedy C; Friedman Jan M; Srivastava Anand K; Scherer Stephen W
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
Psychiatric genetics 2008;18(3):101-9.
2008: Estivill Xavier; Cox Nancy J; Chanock Stephen J; Kwok Pui-Yan; Scherer Stephen W; Brookes Anthony J
SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report.
PLoS genetics 2008;4(4):e1000068.
2008: Goobie S; Knijnenburg J; Fitzpatrick D; Sharkey F H; Lionel A C; Marshall C R; Azam T; Shago M; Chong K; Mendoza-Londono R; den Hollander N S; Ruivenkamp C; Maher E; Tanke H J; Szuhai K; Wintle R F; Scherer S W
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Cytogenetic and genome research 2008;123(1-4):65-78.
2008: Okamura Kohji; Wintle Richard F; Scherer Stephen W
Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprinting.
Genome biology 2008;9(11):R160.
2007: Moessner Rainald; Marshall Christian R; Sutcliffe James S; Skaug Jennifer; Pinto Dalila; Vincent John; Zwaigenbaum Lonnie; Fernandez Bridget; Roberts Wendy; Szatmari Peter; Scherer Stephen W
Contribution of SHANK3 mutations to autism spectrum disorder.
American journal of human genetics 2007;81(6):1289-97.
2007: Pinto Dalila; Marshall Christian; Feuk Lars; Scherer Stephen W
Copy-number variation in control population cohorts.
Human molecular genetics 2007;16 Spec No. 2():R168-73.
2007: Mensah Albert K; De Luca Vincenzo; Stachowiak Beata; Noor Abdul; Windpassinger Christian; Lam Stephen T S; Kennedy James L; Scherer Stephen W; Lo Ivan F M; Vincent John B
Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.
Schizophrenia research 2007;95(1-3):228-35.
2007: Scherer Stephen W; Lee Charles; Birney Ewan; Altshuler David M; Eichler Evan E; Carter Nigel P; Hurles Matthew E; Feuk Lars
Challenges and standards in integrating surveys of structural variation.
Nature genetics 2007;39(7 Suppl):S7-15.
2007: Parker-Katiraee Layla; Carson Andrew R; Yamada Takahiro; Arnaud Philippe; Feil Robert; Abu-Amero Sayeda N; Moore Gudrun E; Kaneda Masahiro; Perry George H; Stone Anne C; Lee Charles; Meguro-Horike Makiko; Sasaki Hiroyuki; Kobayashi Keiko; Nakabayashi Kazuhiko; Scherer Stephen W
Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.
PLoS genetics 2007;3(5):e65.
2007: Harvey Chris G; Menon Sailesh D; Stachowiak Beata; Noor Abdul; Proctor Adam; Mensah Albert K; Mnatzakanian Gevork N; Alfred Simon E; Guo Ray; Scherer Stephen W; Kennedy James L; Roberts Wendy; Srivastava Anand K; Minassian Berge A; Vincent John B
Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(3):355-60.
2007: Kwasnicka-Crawford Dorota A; Roberts Wendy; Scherer Stephen W
Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
Journal of autism and developmental disorders 2007;37(4):694-702.
2007: Stranger Barbara E; Forrest Matthew S; Dunning Mark; Ingle Catherine E; Beazley Claude; Thorne Natalie; Redon Richard; Bird Christine P; de Grassi Anna; Lee Charles; Tyler-Smith Chris; Carter Nigel; Scherer Stephen W; Tavaré Simon; Deloukas Panagiotis; Hurles Matthew E; Dermitzakis Emmanouil T
Relative impact of nucleotide and copy number variation on gene expression phenotypes.
Science (New York, N.Y.) 2007;315(5813):848-53.
2007: Petek Erwin; Schwarzbraun Thomas; Noor Abdul; Patel Megha; Nakabayashi Kazuhiko; Choufani Sanaa; Windpassinger Christian; Stamenkovic Mara; Robertson Mary M; Aschauer Harald N; Gurling Hugh M D; Kroisel Peter M; Wagner Klaus; Scherer Stephen W; Vincent John B
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Molecular genetics and genomics : MGG 2007;277(1):71-81.
2007: Okamura Kohji; Wei John; Scherer Stephen W
Evolutionary implications of inversions that have caused intra-strand parity in DNA.
BMC genomics 2007;8():160.
2007: Li Catherine F; MacDonald Jeffrey R; Wei Robert Y; Ray Jocelyn; Lau Kimberly; Kandel Christopher; Koffman Rachel; Bell Sherilyn; Scherer Stephen W; Alman Benjamin A
Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse.
BMC genomics 2007;8():92.
2006: Fiegler Heike; Redon Richard; Andrews Dan; Scott Carol; Andrews Robert; Carder Carol; Clark Richard; Dovey Oliver; Ellis Peter; Feuk Lars; French Lisa; Hunt Paul; Kalaitzopoulos Dimitrios; Larkin James; Montgomery Lyndal; Perry George H; Plumb Bob W; Porter Keith; Rigby Rachel E; Rigler Diane; Valsesia Armand; Langford Cordelia; Humphray Sean J; Scherer Stephen W; Lee Charles; Hurles Matthew E; Carter Nigel P
Accurate and reliable high-throughput detection of copy number variation in the human genome.
Genome research 2006;16(12):1566-74.
2006: Komura Daisuke; Shen Fan; Ishikawa Shumpei; Fitch Karen R; Chen Wenwei; Zhang Jane; Liu Guoying; Ihara Sigeo; Nakamura Hiroshi; Hurles Matthew E; Lee Charles; Scherer Stephen W; Jones Keith W; Shapero Michael H; Huang Jing; Aburatani Hiroyuki
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.
Genome research 2006;16(12):1575-84.
2006: Khaja Razi; Zhang Junjun; MacDonald Jeffrey R; He Yongshu; Joseph-George Ann M; Wei John; Rafiq Muhammad A; Qian Cheng; Shago Mary; Pantano Lorena; Aburatani Hiroyuki; Jones Keith; Redon Richard; Hurles Matthew; Armengol Lluis; Estivill Xavier; Mural Richard J; Lee Charles; Scherer Stephen W; Feuk Lars
Genome assembly comparison identifies structural variants in the human genome.
Nature genetics 2006;38(12):1413-8.
2006: Kwasnicka-Crawford Dorota A; Carson Andrew R; Scherer Stephen W
IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein.
Biochemical and biophysical research communications 2006;350(4):890-9.
2006: Okamura Kohji; Feuk Lars; Marquès-Bonet Tomàs; Navarro Arcadi; Scherer Stephen W
Frequent appearance of novel protein-coding sequences by frameshift translation.
Genomics 2006;88(6):690-7.
2006: Feuk Lars; Kalervo Aino; Lipsanen-Nyman Marita; Skaug Jennifer; Nakabayashi Kazuhiko; Finucane Brenda; Hartung Danielle; Innes Micheil; Kerem Batsheva; Nowaczyk Malgorzata J; Rivlin Joseph; Roberts Wendy; Senman Lili; Summers Anne; Szatmari Peter; Wong Virginia; Vincent John B; Zeesman Susan; Osborne Lucy R; Cardy Janis Oram; Kere Juha; Scherer Stephen W; Hannula-Jouppi Katariina
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.
American journal of human genetics 2006;79(5):965-72.
2006: Andrade Danielle M; Scherer Stephen W; Minassian Berge A
Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple?
Epilepsy research 2006;72(1):75-9.
2006: Wilson Michael D; Cheung Joseph; Martindale Duane W; Scherer Stephen W; Koop Ben F
Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes.
Physiological genomics 2006;27(3):201-18.
2006: Freeman Jennifer L; Perry George H; Feuk Lars; Redon Richard; McCarroll Steven A; Altshuler David M; Aburatani Hiroyuki; Jones Keith W; Tyler-Smith Chris; Hurles Matthew E; Carter Nigel P; Scherer Stephen W; Lee Charles
Copy number variation: new insights in genome diversity.
Genome research 2006;16(8):949-61.
2006: Schwarzbraun Thomas; Windpassinger Christian; Ofner Lisa; Vincent John B; Cheung Joseph; Scherer Stephen W; Wagner Klaus; Kroisel Peter M; Petek Erwin
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
European journal of medical genetics 2006;49(4):338-45.
2006: Carson Andrew R; Feuk Lars; Mohammed Mansoor; Scherer Stephen W
Strategies for the detection of copy number and other structural variants in the human genome.
Human genomics 2006;2(6):403-14.
2006: Perry George H; Tchinda Joelle; McGrath Sean D; Zhang Junjun; Picker Simon R; Cáceres Angela M; Iafrate A John; Tyler-Smith Chris; Scherer Stephen W; Eichler Evan E; Stone Anne C; Lee Charles
Hotspots for copy number variation in chimpanzees and humans.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(21):8006-11.
2006: Vincent J B; Horike S I; Choufani S; Paterson A D; Roberts W; Szatmari P; Weksberg R; Fernandez B; Scherer S W
An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.
Journal of medical genetics 2006;43(5):429-34.
2006: Feuk Lars; Marshall Christian R; Wintle Richard F; Scherer Stephen W
Structural variants: changing the landscape of chromosomes and design of disease studies.
Human molecular genetics 2006;15 Spec No 1():R57-66.
2006: Zeesman Susan; Nowaczyk Malgorzata J M; Teshima Ikuko; Roberts Wendy; Cardy Janis Oram; Brian Jessica; Senman Lili; Feuk Lars; Osborne Lucy R; Scherer Stephen W
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.
American journal of medical genetics. Part A 2006;140(5):509-14.
2006: Feuk Lars; Carson Andrew R; Scherer Stephen W
Structural variation in the human genome.
Nature reviews. Genetics 2006;7(2):85-97.
2006: Garcia-Barceló Mercè; So Man-Ting; Lau Danny Ko-Chun; Leon Thomas Yuk-Yu; Yuan Zheng-Wei; Cai Wei-Song; Lui Vincent Chi-Hang; Fu Ming; Herbrick Jo-Anne; Gutter Emily; Proud Virginia; Li Long; Pierre-Louis Jacqueline; Aleck Kirk; van Heurn Ernest; Belloni Elena; Scherer Stephen W; Tam Paul Kwong-Hang
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
Clinical chemistry 2006;52(1):46-52.
2006: Zhang J; Feuk L; Duggan G E; Khaja R; Scherer S W
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.
Cytogenetic and genome research 2006;115(3-4):205-14.
2006: Osborne Lucy R; Joseph-George Ann M; Scherer Stephen W
Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.
Methods in molecular medicine 2006;126():113-28.
2006: Khaja Razi; MacDonald Jeffrey R; Zhang Junjun; Scherer Stephen W
Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes.
Methods in molecular biology (Clifton, N.J.) 2006;338():9-20.
2006: Carson Andrew R; Cheung Joseph; Scherer Stephen W
Duplication and relocation of the functional DPY19L2 gene within low copy repeats.
BMC genomics 2006;7():45.
2006: Lohi Hannes; Chan Elayne M; Scherer Stephen W; Minassian Berge A
On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.
Advances in neurology 2006;97():399-415.
2005: Armengol Lluís; Marquès-Bonet Tomàs; Cheung Joseph; Khaja Razi; González Juan R; Scherer Stephen W; Navarro Arcadi; Estivill Xavier
Murine segmental duplications are hot spots for chromosome and gene evolution.
Genomics 2005;86(6):692-700.
2005: Feuk Lars; MacDonald Jeffrey R; Tang Terence; Carson Andrew R; Li Martin; Rao Girish; Khaja Razi; Scherer Stephen W
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
PLoS genetics 2005;1(4):e56.
2005: Somerville Martin J; Mervis Carolyn B; Young Edwin J; Seo Eul-Ju; del Campo Miguel; Bamforth Stephen; Peregrine Ella; Loo Wayne; Lilley Margaret; Pérez-Jurado Luis A; Morris Colleen A; Scherer Stephen W; Osborne Lucy R
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
The New England journal of medicine 2005;353(16):1694-701.
2005: Fernandez B A; Siegel-Bartelt J; Herbrick J-A S; Teshima I; Scherer S W
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.
Clinical genetics 2005;68(4):349-59.
2005: Ianzano Leonarda; Zhang Junjun; Chan Elayne M; Zhao Xiao-Chu; Lohi Hannes; Scherer Stephen W; Minassian Berge A
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.
Human mutation 2005;26(4):397.
2005: Lohi Hannes; Ianzano Leonarda; Zhao Xiao-Chu; Chan Elayne M; Turnbull Julie; Scherer Stephen W; Ackerley Cameron A; Minassian Berge A
Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.
Human molecular genetics 2005;14(18):2727-36.
2005: Scherer Stephen W; Gripp Karen W; Lucena Jaume; Nicholson Linda; Bonnefont Jean-Paul; Pérez-Jurado Luis A; Osborne Lucy R
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
Human genetics 2005;117(4):383-8.
2005: Kwasnicka-Crawford Dorota A; Carson Andrew R; Roberts Wendy; Summers Anne M; Rehnström Karola; Järvelä Irma; Scherer Stephen W
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
Genomics 2005;86(2):182-94.
2005: Yamada Takahiro; Carson Andrew R; Caniggia Isabella; Umebayashi Kyohei; Yoshimori Tamotsu; Nakabayashi Kazuhiko; Scherer Stephen W
Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast.
The Journal of biological chemistry 2005;280(18):18283-90.
2005: Eppert Kolja; Wunder Jay S; Aneliunas Vicky; Tsui Lap-Chee; Scherer Stephen W; Andrulis Irene L
Altered expression and deletion of RMO1 in osteosarcoma.
International journal of cancer. Journal international du cancer 2005;114(5):738-46.
2005: Boright Andrew P; Paterson Andrew D; Mirea Lucia; Bull Shelley B; Mowjoodi Alireza; Scherer Stephen W; Zinman Bernard;
Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study.
Diabetes 2005;54(4):1238-44.
2005: Nakabayashi Kazuhiko; Amann Daniela; Ren Yan; Saarialho-Kere Ulpu; Avidan Nili; Gentles Simone; MacDonald Jeffrey R; Puffenberger Erik G; Christiano Angela M; Martinez-Mir Amalia; Salas-Alanis Julio C; Rizzo Renata; Vamos Esther; Raams Anja; Les Clifford; Seboun Eric; Jaspers Nicolaas G J; Beckmann Jacques S; Jackson Charles E; Scherer Stephen W
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
American journal of human genetics 2005;76(3):510-6.
2005: Lohi Hannes; Young Edwin J; Fitzmaurice Susan N; Rusbridge Clare; Chan Elayne M; Vervoort Mike; Turnbull Julie; Zhao Xiao-Chu; Ianzano Leonarda; Paterson Andrew D; Sutter Nathan B; Ostrander Elaine A; André Catherine; Shelton G Diane; Ackerley Cameron A; Scherer Stephen W; Minassian Berge A
Expanded repeat in canine epilepsy.
Science (New York, N.Y.) 2005;307(5706):81.
2004: Scherer Stephen W; Green Eric D
Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome.
Human molecular genetics 2004;13 Spec No 2():R303-13.
2004: Iafrate A John; Feuk Lars; Rivera Miguel N; Listewnik Marc L; Donahoe Patricia K; Qi Ying; Scherer Stephen W; Lee Charles
Detection of large-scale variation in the human genome.
Nature genetics 2004;36(9):949-51.
2004: Robb G Brett; Carson Andrew R; Tai Sharon C; Fish Jason E; Singh Sundeep; Yamada Takahiro; Scherer Stephen W; Nakabayashi Kazuhiko; Marsden Philip A
Post-transcriptional regulation of endothelial nitric-oxide synthase by an overlapping antisense mRNA transcript.
The Journal of biological chemistry 2004;279(36):37982-96.
2004: Chan E M; Omer S; Ahmed M; Bridges L R; Bennett C; Scherer S W; Minassian B A
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus.
Neurology 2004;63(3):565-7.
2004: Nakabayashi K; Makino S; Minagawa S; Smith A C; Bamforth J S; Stanier P; Preece M; Parker-Katiraee L; Paton T; Oshimura M; Mill P; Yoshikawa Y; Hui C C; Monk D; Moore G E; Scherer S W
Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues.
Journal of medical genetics 2004;41(8):601-8.
2004: Vincent John B; Kolozsvari Debbie; Roberts Wendy S; Bolton Patrick F; Gurling Hugh M D; Scherer Stephen W
Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;129B(1):82-4.
2004: Chan Elayne M; Ackerley Cameron A; Lohi Hannes; Ianzano Leonarda; Cortez Miguel A; Shannon Patrick; Scherer Stephen W; Minassian Berge A
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.
Human molecular genetics 2004;13(11):1117-29.
2004: Taylor Michael D; Zhang Xiaoyun; Liu Ling; Hui Chi-Chung; Mainprize Todd G; Scherer Stephen W; Wainwright Brandon; Hogg David; Rutka James T
Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling.
Oncogene 2004;23(26):4577-83.
2004: Mnatzakanian Gevork N; Lohi Hannes; Munteanu Iulia; Alfred Simon E; Yamada Takahiro; MacLeod Patrick J M; Jones Julie R; Scherer Stephen W; Schanen N Carolyn; Friez Michael J; Vincent John B; Minassian Berge A
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
Nature genetics 2004;36(4):339-41.
2004: Vincent John B; Thevarkunnel Sandy; Kolozsvari Debbie; Paterson Andrew D; Roberts Wendy; Scherer Stephen W
Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;125B(1):54-6.
2004: Ianzano Leonarda; Young Edwin J; Zhao Xiao C; Chan Elayne M; Rodriguez M T; Torrado Maria V; Scherer Stephen W; Minassian Berge A
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
Human mutation 2004;23(2):170-6.
2004: Liu Xiangdong; Li Xiaobin; Li Martin; Acimovic Yugo J; Li Zhenzhong; Scherer Stephen W; Estivill Xavier; Tsui Lap-Chee
Characterization of the segmental duplication LCR7-20 in the human genome.
Genomics 2004;83(2):262-9.
2003: Andrade D M; Ackerley C A; Minett T S C; Teive H A G; Bohlega S; Scherer S W; Minassian B A
Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Neurology 2003;61(11):1611-4.
2003: Fadiel Ahmed; Lithwick Stuart; Ganji Gopi; Scherer Stephen W
Remarkable sequence signatures in archaeal genomes.
Archaea (Vancouver, B.C.) 2003;1(3):185-90.
2003: Zlotorynski Eitan; Rahat Ayelet; Skaug Jennifer; Ben-Porat Neta; Ozeri Efrat; Hershberg Ruth; Levi Ayala; Scherer Stephen W; Margalit Hanah; Kerem Batsheva
Molecular basis for expression of common and rare fragile sites.
Molecular and cellular biology 2003;23(20):7143-51.
2003: Chan Elayne M; Young Edwin J; Ianzano Leonarda; Munteanu Iulia; Zhao Xiaochu; Christopoulos Constantine C; Avanzini Giuliano; Elia Maurizio; Ackerley Cameron A; Jovic Nebojsa J; Bohlega Saeed; Andermann Eva; Rouleau Guy A; Delgado-Escueta Antonio V; Minassian Berge A; Scherer Stephen W
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Nature genetics 2003;35(2):125-7.
2003: Chan E M; Bulman D E; Paterson A D; Turnbull J; Andermann E; Andermann F; Rouleau G A; Delgado-Escueta A V; Scherer S W; Minassian B A
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.
Journal of medical genetics 2003;40(9):671-5.
2003: Armengol Lluis; Pujana Miguel Angel; Cheung Joseph; Scherer Stephen W; Estivill Xavier
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.
Human molecular genetics 2003;12(17):2201-8.
2003: Hudek Alexander K; Cheung Joseph; Boright Andrew P; Scherer Stephen W
Genescript: DNA sequence annotation pipeline.
Bioinformatics (Oxford, England) 2003;19(9):1177-8.
2003: Ianzano Leonarda; Zhao Xiao C; Minassian Berge A; Scherer Stephen W
Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.
Genomics 2003;81(6):579-87.
2003: Hitzler Johann K; Cheung Joseph; Li Yue; Scherer Stephen W; Zipursky Alvin
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome.
Blood 2003;101(11):4301-4.
2003: Bentley L; Nakabayashi K; Monk D; Beechey C; Peters J; Birjandi Z; Khayat F E; Patel M; Preece M A; Stanier P; Scherer S W; Moore G E
The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome.
Journal of medical genetics 2003;40(4):249-56.
2003: Cisternas Felipe A; Vincent John B; Scherer Stephen W; Ray Peter N
Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family.
Genomics 2003;81(3):279-91.
2003: Petek Erwin; Windpassinger Christian; Mach Monika; Rauter Ludwig; Scherer Stephen W; Wagner Klaus; Kroisel Peter M
Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.
American journal of medical genetics. Part A 2003;117A(2):122-6.
2003: Lamhonwah Anne-Marie; Skaug Jennifer; Scherer Stephen W; Tein Ingrid
A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5).
Biochemical and biophysical research communications 2003;301(1):98-101.
2003: Boright Andrew P; Kere Juha A; Scherer Stephen W
Genomics and pediatric research.
Pediatric research 2003;53(1):4-9.
2003: Cheung Joseph; Wilson Michael D; Zhang Junjun; Khaja Razi; MacDonald Jeffrey R; Heng Henry H Q; Koop Ben F; Scherer Stephen W
Recent segmental and gene duplications in the mouse genome.
Genome biology 2003;4(8):R47.
2003: Cheung Joseph; Estivill Xavier; Khaja Razi; MacDonald Jeffrey R; Lau Ken; Tsui Lap-Chee; Scherer Stephen W
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Genome biology 2003;4(4):R25.
2002: Vincent John B; Petek Erwin; Thevarkunnel Sandy; Kolozsvari Debbie; Cheung Joseph; Patel Megha; Scherer Stephen W
The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system.
Genomics 2002;80(3):283-94.
2002: Nakabayashi Kazuhiko; Bentley Louise; Hitchins Megan P; Mitsuya Kohzoh; Meguro Makiko; Minagawa Sachi; Bamforth John S; Stanier Philip; Preece Michael; Weksberg Rosanna; Oshimura Mitsuo; Moore Gudrun E; Scherer Stephen W
Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.
Human molecular genetics 2002;11(15):1743-56.
2002: Taylor Michael D; Liu Ling; Raffel Corey; Hui Chi-chung; Mainprize Todd G; Zhang Xiaoyun; Agatep Ron; Chiappa Sharon; Gao Luzhang; Lowrance Anja; Hao Aihau; Goldstein Alisa M; Stavrou Theodora; Scherer Stephen W; Dura Wieslaw T; Wainwright Brandon; Squire Jeremy A; Rutka James T; Hogg David
Mutations in SUFU predispose to medulloblastoma.
Nature genetics 2002;31(3):306-10.
2002: Chun Kathy; Teebi Ahmad S; Jung Jack H; Kennedy Shelley; Laframboise Rachel; Meschino Wendy S; Nakabayashi Kazuhiko; Scherer Stephen W; Ray Peter N; Teshima Ikuko
Genetic analysis of patients with the Saethre-Chotzen phenotype.
American journal of medical genetics 2002;110(2):136-43.
2002: Hellman Asaf; Zlotorynski Eitan; Scherer Stephen W; Cheung Joseph; Vincent John B; Smith David I; Trakhtenbrot Luba; Kerem Batsheva
A role for common fragile site induction in amplification of human oncogenes.
Cancer cell 2002;1(1):89-97.
2002: Nakabayashi Kazuhiko; Fernandez Bridget A; Teshima Ikuko; Shuman Cheryl; Proud Virginia K; Curry Cynthia J; Chitayat David; Grebe Theresa; Ming Jeffrey; Oshimura Mitsuo; Meguro Makiko; Mitsuya Kohzoh; Deb-Rinker Paromita; Herbrick Jo-Anne; Weksberg Rosanna; Scherer Stephen W
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Genomics 2002;79(2):186-96.
2001: Cheung J; Petek E; Nakabayashi K; Tsui L C; Vincent J B; Scherer S W
Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.
Genomics 2001;78(1-2):7-11.
2001: Osborne L R; Li M; Pober B; Chitayat D; Bodurtha J; Mandel A; Costa T; Grebe T; Cox S; Tsui L C; Scherer S W
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
Nature genetics 2001;29(3):321-5.
2001: Scherer S W; Cheung J
Discovery of the human genome sequence in the public and private databases.
Current biology : CB 2001;11(20):R808-11.
2001: Hadano S; Hand C K; Osuga H; Yanagisawa Y; Otomo A; Devon R S; Miyamoto N; Showguchi-Miyata J; Okada Y; Singaraja R; Figlewicz D A; Kwiatkowski T; Hosler B A; Sagie T; Skaug J; Nasir J; Brown R H; Scherer S W; Rouleau G A; Hayden M R; Ikeda J E
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Nature genetics 2001;29(2):166-73.
2001: Ma Z; Morris S W; Valentine V; Li M; Herbrick J A; Cui X; Bouman D; Li Y; Mehta P K; Nizetic D; Kaneko Y; Chan G C; Chan L C; Squire J; Scherer S W; Hitzler J K
Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia.
Nature genetics 2001;28(3):220-1.
2001: Nakabayashi K; Scherer S W
The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35.
Genomics 2001;73(1):108-12.
2001: Petek E; Windpassinger C; Vincent J B; Cheung J; Boright A P; Scherer S W; Kroisel P M; Wagner K
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
American journal of human genetics 2001;68(4):848-58.
2001: Wilson M D; Riemer C; Martindale D W; Schnupf P; Boright A P; Cheung T L; Hardy D M; Schwartz S; Scherer S W; Tsui L C; Miller W; Koop B F
Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5.
Nucleic acids research 2001;29(6):1352-65.
2001: Wong C G; Scherer S W; Snead O C; Hampson D R
Localization of the human mGluR4 gene within an epilepsy susceptibility locus(1).
Brain research. Molecular brain research 2001;87(1):109-16.
2001: Minassian B A; Andrade D M; Ianzano L; Young E J; Chan E; Ackerley C A; Scherer S W
Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase.
Annals of neurology 2001;49(2):271-5.
2001: Hadano S; Yanagisawa Y; Skaug J; Fichter K; Nasir J; Martindale D; Koop B F; Scherer S W; Nicholson D W; Rouleau G A; Ikeda J; Hayden M R
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.
Genomics 2001;71(2):200-13.
2000: Sasaki T; Irie-Sasaki J; Horie Y; Bachmaier K; Fata J E; Li M; Suzuki A; Bouchard D; Ho A; Redston M; Gallinger S; Khokha R; Mak T W; Hawkins P T; Stephens L; Scherer S W; Tsao M; Penninger J M
Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kgamma.
Nature 2000;406(6798):897-902.
2000: Minassian B A; Ianzano L; Meloche M; Andermann E; Rouleau G A; Delgado-Escueta A V; Scherer S W
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
Neurology 2000;55(3):341-6.
2000: Vincent J B; Herbrick J A; Gurling H M; Bolton P F; Roberts W; Scherer S W
Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.
American journal of human genetics 2000;67(2):510-4.
2000: Vincent J B; Skaug J; Scherer S W
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.
DNA research : an international journal for rapid publication of reports on genes and genomes 2000;7(3):233-5.
2000: Hellman A; Rahat A; Scherer S W; Darvasi A; Tsui L C; Kerem B
Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability.
Molecular and cellular biology 2000;20(12):4420-7.
2000: Nowaczyk M J; Huggins M J; Tomkins D J; Rossi E; Ramsay J A; Woulfe J; Scherer S W; Belloni E
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency..
Clinical genetics 2000;57(5):388-93.
2000: Minassian B A; Ianzano L; Delgado-Escueta A V; Scherer S W
Identification of new and common mutations in the EPM2A gene in Lafora disease.
Neurology 2000;54(2):488-90.
1999: Beatty B G; Qi S; Pienkowska M; Herbrick J A; Scheidl T; Zhang Z M; Kola I; Scherer S W; Seth A
Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21.
Genomics 1999;62(3):529-32.
1999: Sinasac D S; Crackower M A; Lee J R; Kobayashi K; Saheki T; Scherer S W; Tsui L C
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.
Genomics 1999;62(2):289-92.
1999: Yousef G M; Luo L Y; Scherer S W; Sotiropoulou G; Diamandis E P
Molecular characterization of zyme/protease M/neurosin (PRSS9), a hormonally regulated kallikrein-like serine protease.
Genomics 1999;62(2):251-9.
1999: Mansour S J; Skaug J; Zhao X H; Giordano J; Scherer S W; Melançon P
p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(14):7968-73.
1999: Kobayashi K; Sinasac D S; Iijima M; Boright A P; Begum L; Lee J R; Yasuda T; Ikeda S; Hirano R; Terazono H; Crackower M A; Kondo I; Tsui L C; Scherer S W; Saheki T
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
Nature genetics 1999;22(2):159-63.
1999: Osborne L R; Campbell T; Daradich A; Scherer S W; Tsui L C
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
Genomics 1999;57(2):279-84.
1999: Crackower M A; Sinasac D S; Xia J; Motoyama J; Prochazka M; Rommens J M; Scherer S W; Tsui L C
Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human.
Genomics 1999;55(3):257-67.
1999: Hadano S; Nichol K; Brinkman R R; Nasir J; Martindale D; Koop B F; Nicholson D W; Scherer S W; Ikeda J E; Hayden M R
A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34.
Genomics 1999;55(1):106-12.
1999: Crackower M A; Sinasac D S; Lee J R; Herbrick J A; Tsui L C; Scherer S W
Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24.
Cytogenetics and cell genetics 1999;87(3-4):197-8.
1998: Egan S; Herbrick J A; Tsui L C; Cohen B; Flock G; Beatty B; Scherer S W
Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12.
Genomics 1998;54(3):576-7.
1998: Mansour S J; Herbrick J A; Scherer S W; Melançon P
Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24.
Genomics 1998;54(2):323-7.
1998: Minassian B A; Lee J R; Herbrick J A; Huizenga J; Soder S; Mungall A J; Dunham I; Gardner R; Fong C Y; Carpenter S; Jardim L; Satishchandra P; Andermann E; Snead O C; Lopes-Cendes I; Tsui L C; Delgado-Escueta A V; Rouleau G A; Scherer S W
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Nature genetics 1998;20(2):171-4.
1998: Boright A P; Connelly P W; Brunt J H; Scherer S W; Tsui L C; Hegele R A
Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites.
Atherosclerosis 1998;139(1):131-6.
1998: Mishmar D; Rahat A; Scherer S W; Nyakatura G; Hinzmann B; Kohwi Y; Mandel-Gutfroind Y; Lee J R; Drescher B; Sas D E; Margalit H; Platzer M; Weiss A; Tsui L C; Rosenthal A; Kerem B
Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(14):8141-6.
1998: Luo L; Herbrick J A; Scherer S W; Beatty B; Squire J; Diamandis E P
Structural characterization and mapping of the normal epithelial cell-specific 1 gene.
Biochemical and biophysical research communications 1998;247(3):580-6.
1998: Ling M; McEachern G; Seyda A; MacKay N; Scherer S W; Bratinova S; Beatty B; Giovannucci-Uzielli M L; Robinson B H
Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
Human molecular genetics 1998;7(3):501-5.
1998: de la Puente A; Velasco E; Pérez Jurado L A; Hernández-Chico C; van de Rijke F M; Scherer S W; Raap A K; Cruces J
Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7.
Cytogenetics and cell genetics 1998;83(3-4):176-81.
1997: Freund C L; Gregory-Evans C Y; Furukawa T; Papaioannou M; Looser J; Ploder L; Bellingham J; Ng D; Herbrick J A; Duncan A; Scherer S W; Tsui L C; Loutradis-Anagnostou A; Jacobson S G; Cepko C L; Bhattacharya S S; McInnes R R
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
Cell 1997;91(4):543-53.
1997: Odermatt A; Taschner P E; Scherer S W; Beatty B; Khanna V K; Cornblath D R; Chaudhry V; Yee W C; Schrank B; Karpati G; Breuning M H; Knoers N; MacLennan D H
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.
Genomics 1997;45(3):541-53.
1997: Osborne L R; Herbrick J A; Greavette T; Heng H H; Tsui L C; Scherer S W
PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
Genomics 1997;45(2):402-6.
1997: Hegele R A; Connelly P W; Scherer S W; Hanley A J; Harris S B; Tsui L C; Zinman B
Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus.
The Journal of clinical endocrinology and metabolism 1997;82(10):3373-7.
1997: Scherer S W; Soder S; Duvoisin R M; Huizenga J J; Tsui L C
The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1.
Genomics 1997;44(2):232-6.
1997: Crackower M A; Heng H H; Shi X; Scherer S W; Tsui L C
Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(9):704.
1997: Osborne L R; Soder S; Shi X M; Pober B; Costa T; Scherer S W; Tsui L C
Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.
American journal of human genetics 1997;61(2):449-52.
1997: Edelson M I; Scherer S W; Tsui L C; Welch W R; Bell D A; Berkowitz R S; Mok S C
Identification of a 1300 kilobase deletion unit on chromosome 7q31.3 in invasive epithelial ovarian carcinomas.
Oncogene 1997;14(24):2979-84.
1997: Crackower M A; Scherer S W; Heng H H; Tsui L C
Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human chromosome band 5q14.
Mammalian genome : official journal of the International Mammalian Genome Society 1997;8(2):159-60.
1996: Gaedigk R; Karges W; Hui M F; Scherer S W; Dosch H M
Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity.
Genomics 1996;38(3):382-91.
1996: Roessler E; Belloni E; Gaudenz K; Jay P; Berta P; Scherer S W; Tsui L C; Muenke M
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Nature genetics 1996;14(3):357-60.
1996: Belloni E; Muenke M; Roessler E; Traverso G; Siegel-Bartelt J; Frumkin A; Mitchell H F; Donis-Keller H; Helms C; Hing A V; Heng H H; Koop B; Martindale D; Rommens J M; Tsui L C; Scherer S W
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Nature genetics 1996;14(3):353-6.
1996: Osborne L R; Martindale D; Scherer S W; Shi X M; Huizenga J; Heng H H; Costa T; Pober B; Lew L; Brinkman J; Rommens J; Koop B; Tsui L C
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
Genomics 1996;36(2):328-36.
1996: Rowles J; Scherer S W; Xi T; Majer M; Nickle D C; Rommens J M; Popov K M; Harris R A; Riebow N L; Xia J; Tsui L C; Bogardus C; Prochazka M
Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human.
The Journal of biological chemistry 1996;271(37):22376-82.
1996: Eppert K; Scherer S W; Ozcelik H; Pirone R; Hoodless P; Kim H; Tsui L C; Bapat B; Gallinger S; Andrulis I L; Thomsen G H; Wrana J L; Attisano L
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma.
Cell 1996;86(4):543-52.
1996: Scherer S W; Feinstein D S; Oliveira L; Tsui L C; Pittler S J
Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1).
Genomics 1996;35(1):241-3.
1996: Crackower M A; Scherer S W; Rommens J M; Hui C C; Poorkaj P; Soder S; Cobben J M; Hudgins L; Evans J P; Tsui L C
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
Human molecular genetics 1996;5(5):571-9.
1996: Johnson E J; Scherer S W; Osborne L; Tsui L C; Oscier D; Mould S; Cotter F E
Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia.
Blood 1996;87(9):3579-86.
1996: Höglund P; Haila S; Scherer S W; Tsui L C; Green E D; Weissenbach J; Holmberg C; de la Chapelle A; Kere J
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31.
Genome research 1996;6(3):202-10.
1996: Takahara K; Osborne L; Elliott R W; Tsui L C; Scherer S W; Greenspan D S
Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein.
Genomics 1996;31(2):253-6.
1996: Scherer S W; Duvoisin R M; Kuhn R; Heng H H; Belloni E; Tsui L C
Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q.
Genomics 1996;31(2):230-3.
1995: Scherer S W; Heng H H; Robinson G W; Mahon K A; Evans J P; Tsui L C
Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization.
Mammalian genome : official journal of the International Mammalian Genome Society 1995;6(4):310-1.
1994: Scherer S W; Poorkaj P; Massa H; Soder S; Allen T; Nunes M; Geshuri D; Wong E; Belloni E; Little S
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
Human molecular genetics 1994;3(8):1345-54.
1994: Scherer S W; Poorkaj P; Allen T; Kim J; Geshuri D; Nunes M; Soder S; Stephens K; Pagon R A; Patton M A
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.
American journal of human genetics 1994;55(1):12-20.
1994: Kunz J; Scherer S W; Klawitz I; Soder S; Du Y Z; Speich N; Kalff-Suske M; Heng H H; Tsui L C; Grzeschik K H
Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones.
Genomics 1994;22(2):439-48.
1994: Heng H H; Shi X M; Scherer S W; Andrulis I L; Tsui L C
Refined localization of the asparagine synthetase gene (ASNS) to chromosome 7, region q21.3, and characterization of the somatic cell hybrid line 4AF/106/KO15.
Cytogenetics and cell genetics 1994;66(2):135-8.
1993: Marsden P A; Heng H H; Scherer S W; Stewart R J; Hall A V; Shi X M; Tsui L C; Schappert K T
Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene.
The Journal of biological chemistry 1993;268(23):17478-88.
1993: Scherer S W; Rommens J M; Soder S; Wong E; Plavsic N; Tompkins B J; Beattie A; Kim J; Tsui L C
Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region.
Human molecular genetics 1993;2(6):751-60.
1993: Scherer S W; Neufeld E J; Lievens P M; Orkin S H; Kim J; Tsui L C
Regional localization of the CCAAT displacement protein gene (CUTL1) to 7q22 by analysis of somatic cell hybrids.
Genomics 1993;15(3):695-6.
1992: Scherer S W; Tompkins B J; Tsui L C
A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(3):179-81.
1991: Scherer S W; Otulakowski G; Robinson B H; Tsui L C
Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32.
Cytogenetics and cell genetics 1991;56(3-4):176-7.

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