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Christopher Walsh

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M Chiara Manzini; Thomas M Maynard; Marina Mora; Isabella Moroni; Jennifer N Partlow; Jacqueline Rodriguez; Mustafa A Salih; Kevin V Shianna; Christine R Stevens; Dimira E Tambunan; Abdel-Karim Al-Qudah; Brenda J Barry; Alan H Beggs; Robin Clark; Wafaa Eyaid; Jan M Friedman; Stacey B Gabriel; Vandana A Gupta; Erin L Heinzen; R Sean Hill; Tim W Yu; Christopher Walsh
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Annapurna Poduri; James J Riviello; A James Barkovich; Brenda J Barry; Rameen Beroukhim; Peter M Black; Blaise F D Bourgeois; Xuyu Cai; Princess Christina Elhosary; Gilad D Evrony; Erin L Heinzen; Anthony Hill; R Sean Hill; L Benjamin Hills; Maria K Lehtinen; Keith L Ligon; Christopher Walsh
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
K R Clapham; C du Souich; L Dupuis; B Funalot; V S Ganesh; R Guerrini; Davide Mei; Marjan M Nezarati; Elena Parrini; C van Karnebeek; B Barry; Y Chan; T W Yu; Christopher Walsh
FLNA genomic rearrangements cause periventricular nodular heterotopia.

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All Publications

2012: M Chiara Manzini; Thomas M Maynard; Marina Mora; Isabella Moroni; Jennifer N Partlow; Jacqueline Rodriguez; Mustafa A Salih; Kevin V Shianna; Christine R Stevens; Dimira E Tambunan; Abdel-Karim Al-Qudah; Brenda J Barry; Alan H Beggs; Robin Clark; Wafaa Eyaid; Jan M Friedman; Stacey B Gabriel; Vandana A Gupta; Erin L Heinzen; R Sean Hill; Tim W Yu; Christopher Walsh
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
American journal of human genetics 2012;91(3):541-7.
2012: Annapurna Poduri; James J Riviello; A James Barkovich; Brenda J Barry; Rameen Beroukhim; Peter M Black; Blaise F D Bourgeois; Xuyu Cai; Princess Christina Elhosary; Gilad D Evrony; Erin L Heinzen; Anthony Hill; R Sean Hill; L Benjamin Hills; Maria K Lehtinen; Keith L Ligon; Christopher Walsh
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
Neuron 2012;74(1):41-8.
2012: K R Clapham; C du Souich; L Dupuis; B Funalot; V S Ganesh; R Guerrini; Davide Mei; Marjan M Nezarati; Elena Parrini; C van Karnebeek; B Barry; Y Chan; T W Yu; Christopher Walsh
FLNA genomic rearrangements cause periventricular nodular heterotopia.
Neurology 2012;78(4):269-78.
2011: Tawfeg Ben-Omran; Jillian M Felie; Christopher Walsh; Seham Alameer; Rehab Ali; Mariam Almureikhi; Muna Al-Saffar; Ahmad Teebi
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.
American journal of medical genetics. Part A 2011;155A(11):2647-53.
2011: Stephan Sanders; Chad A Shaw; Michael Sheldon; Youeun Song; James S Sutcliffe; Susanne A Thomson; Jay A Tischfield; Christopher Walsh; Qi Wang; Brian L Yaspan; Timothy W Yu; Ilana R Yurkiewicz; Nicole R Davis Wright; Arthur L Beaudet; Kaya Bilguvar; Andrew I Brooks; Rita M Cantor; Patricia B S Celestino-Soper; Murim Choi; Su H Chu; Edwin H Cook; Emily L Crawford; Martin Curland; Lea Davis; Bernie Devlin; Rahul M Dhodapkar; Michael DiCola; Nicholas M DiLullo; A Gulhan Ercan-Sencicek; Thomas V Fernandez; Vikram Fielding-Singh; Daniel O Fishman; Eric Fombonne; Stephanie Frahm; Rouben Garagaloyan; Daniel Geschwind; Gerald S Goh; Dorothy E Grice; Murat Günel; Abha R Gupta; Vanessa Hus; Sindhuja Kammela; Lambertus Klei; David Ledbetter; Richard P Lifton; Catherine Lord; Jennifer K Lowe; Sabata C Lund; Rui Luo; Shrikant M Mane; Christa Lese Martin; Donna M Martin; Christopher E Mason; Anna D McGrew; Kyle A Meyer; William J Moffat; Michael P Moreau; Daniel Moreno-De-Luca; Eric M Morrow; John D Murdoch; Michael T Murtha; Gordon T Ober; Brian J O'Roak; Rebecca S Pottenger; Melanie J Raubeson; Kathryn Roeder; Sate Matthew
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron 2011;70(5):863-85.
2011: Y Adachi; A Kawaguch; A Poduri; M A Salih; Christopher Walsh; F Yamashita; Grace Yoon; A James Barkovich
Congenital microcephaly with a simplified gyral pattern: associated findings and their significance.
AJNR. American journal of neuroradiology 2011;32(6):1123-9.
2011: M Chiara Manzini; Christopher Walsh
What disorders of cortical development tell us about the cortex: one plus one does not always make two.
Current opinion in genetics & development 2011;21(3):333-9.
2011: Fowzan S Alkuraya; Xuyu Cai; Carina Emery; Ganeshwaran H Mochida; Mohammed S Al-Dosari; Jillian M Felie; R Sean Hill; Brenda J Barry; Jennifer N Partlow; Generoso G Gascon; Amal Kentab; mohammed m jan; Ranad Shaheen; Yuanyi Feng; Christopher Walsh
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].
American journal of human genetics 2011;88(5):536-47.
2011: Cassandre Labelle-Dumais; David J Dilworth; Emily P Harrington; Michelle de Leau; David Lyons; Zhyldyz Kabaeva; M Chiara Manzini; William B Dobyns; Christopher Walsh; Daniel Michele; Douglas B Gould
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
PLoS genetics 2011;7(5):e1002062.
2011: Maria K Lehtinen; Mauro W Zappaterra; Xi Chen; Yawei J Yang; Anthony D Hill; Melody Lun; Thomas M Maynard; Dilenny Gonzalez; Seonhee Kim; Ping Ye; A Joseph D'Ercole; Eric T Wong; Anthony S LaMantia; Christopher Walsh
The cerebrospinal fluid provides a proliferative niche for neural progenitor cells.
Neuron 2011;69(5):893-905.
2011: Claudia Di Blasi; Zein A Karrar; Renato Mantegazza; M Chiara Manzini; Steven A Moore; Lucia Morandi; Maowia M Mukhtar; Mustafa Am Salih; Mohammed Z Seidahmed; Christopher Walsh; Emanuela Bellafiore; Kevin P Campbell; Marina Mora
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.
BMC research notes 2011;4():534.
2011: Maria K Lehtinen; Christopher Walsh
Neurogenesis at the brain-cerebrospinal fluid interface.
Annual review of cell and developmental biology 2011;27():653-79.
2011: Noelle D Dwyer; Danielle K Manning; Jennifer L Moran; Raksha Mudbhary; Michael S Fleming; Carlita B Favero; Vita M Vock; Dennis D M O'Leary; Christopher Walsh; David R Beier
A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype.
Neural development 2011;6():3.
2010: Ganeshwaran H Mochida; Vijay S Ganesh; Jillian M Felie; Danielle Gleason; R Sean Hill; Katie Rose Clapham; Daniel Rakiec; Wen-Hann Tan; Nadia Akawi; Muna Al-Saffar; Jennifer N Partlow; Sigrid Tinschert; A James Barkovich; Bassam Ali; Lihadh Al-Gazali; Christopher Walsh
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
American journal of human genetics 2010;87(6):882-9.
2010: Einat Birk; Adi Har-Zahav; Chiara M Manzini; Metsada Pasmanik-Chor; Liora Kornreich; Christopher Walsh; Konrad Noben-Trauth; Adi Albin; Amos J Simon; Laurence Colleaux; Yair Morad; Limor Rainshtein; David J Tischfield; Peter Wang; Nurit Magal; Idit Maya; Noa Shoshani; Gideon Rechavi; Doron Gothelf; Gal Maydan; Mordechai Shohat; Lina Basel-Vanagaite
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.
American journal of human genetics 2010;87(5):694-700.
2010: Cecilia Mellado; Annapurna Poduri; Danielle Gleason; Princess C Elhosary; Brenda J Barry; Jennifer N Partlow; Bernard S Chang; Gary M Shaw; A James Barkovich; Christopher Walsh
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.
American journal of medical genetics. Part A 2010;152A(11):2736-42.
2010: Timothy W Yu; Ganeshwaran H Mochida; David J Tischfield; Sema K Sgaier; Laura Flores-Sarnat; Consolato M Sergi; Meral Topçu; Marie T McDonald; Brenda J Barry; Jillian M Felie; Christine Sunu; William B Dobyns; Rebecca D Folkerth; A James Barkovich; Christopher Walsh
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Nature genetics 2010;42(11):1015-20.
2010: Volney L Sheen; Alcy R Torres; Xiang Du; Brenda Barry; Christopher Walsh; Virginia E Kimonis
Mutation in PQBP1 is associated with periventricular heterotopia.
American journal of medical genetics. Part A 2010;152A(11):2888-90.
2010: Christopher Walsh; Elizabeth C Engle
Allelic diversity in human developmental neurogenetics: insights into biology and disease.
Neuron 2010;68(2):245-53.
2010: Annapurna Poduri; Vida Chitsazzadeh; Stefano D'Arrigo; Ermellina Fedrizzi; Chiara Pantaleoni; Daria Riva; Claudia Busse; Helmut Küster; Adre Duplessis; John Gaitanis; Mustafa Sahin; Cheryl Garganta; Meral Topcu; Kira A Dies; Brenda J Barry; Jennifer Partlow; A James Barkovich; Christopher Walsh; Bernard S Chang
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Brain & development 2010;32(7):550-5.
2010: Michael S L Ching; Yiping Shen; Wen-Hann Tan; Shafali S Jeste; Eric M Morrow; Xiaoli Chen; Nahit M Mukaddes; Seung-Yun Yoo; Ellen Hanson; Rachel Hundley; Christina Austin; Ronald E Becker; Gerard T Berry; Katherine Driscoll; Elizabeth C Engle; Sandra Friedman; James Gusella; Fuki M Hisama; Mira B Irons; Tina Lafiosca; Elaine LeClair; David T Miller; Michael Neessen; Jonathan D Picker; Leonard Rappaport; Cynthia M Rooney; Dean P Sarco; Joan M Stoler; Christopher Walsh; Robert R Wolff; Ting Zhang; Ramzi H Nasir; Bai-Lin Wu
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(4):937-47.
2010: Sofia B Lizarraga; Steven P Margossian; Marian H Harris; Dean R Campagna; An-Ping Han; Sherika Blevins; Raksha Mudbhary; Jane E Barker; Christopher Walsh; Mark D Fleming
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.
Development (Cambridge, England) 2010;137(11):1907-17.
2010: Beatriz Cubelos; Alvaro Sebastián-Serrano; Leonardo Beccari; Maria Elisa Calcagnotto; Elsa Cisneros; Seonhee Kim; Ana Dopazo; Manuel Alvarez-Dolado; Juan Miguel Redondo; Paola Bovolenta; Christopher Walsh; Marta Nieto
Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex.
Neuron 2010;66(4):523-35.
2010: Debra Silver; Dawn E Watkins-Chow; Karisa C Schreck; Tarran J Pierfelice; Denise M Larson; Anthony J Burnetti; Hung-Jiun Liaw; Kyungjae Myung; Christopher Walsh; Nicholas Gaiano; William J Pavan
The exon junction complex component Magoh controls brain size by regulating neural stem cell division.
Nature neuroscience 2010;13(5):551-8.
2010: Seonhee Kim; Maria K Lehtinen; Alessandro Sessa; Mauro W Zappaterra; Seo-Hee Cho; Dilenny Gonzalez; Brigid Boggan; Christina A Austin; Jan Wijnholds; Michael J Gambello; Jarema Malicki; Anthony S LaMantia; Vania Broccoli; Christopher Walsh
The apical complex couples cell fate and cell survival to cerebral cortical development.
Neuron 2010;66(1):69-84.
2010: M Chiara Manzini; Anna Rajab; Thomas M Maynard; Ganeshwaran H Mochida; Wen-Hann Tan; Ramzi Nasir; R Sean Hill; Danielle Gleason; Muna Al Saffar; Jennifer N Partlow; Brenda J Barry; Mike Vernon; Anthony-Samuel LaMantia; Christopher Walsh
Developmental and degenerative features in a complicated spastic paraplegia.
Annals of neurology 2010;67(4):516-25.
2010: Yiping Shen; Kira A Dies; Ingrid A Holm; Carolyn Bridgemohan; Magdi M Sobeih; Elizabeth B Caronna; Karen J Miller; Jean A Frazier; Iris Silverstein; Jonathan Picker; Laura Weissman; Peter Raffalli; Shafali Jeste; Laurie A Demmer; Heather K Peters; Stephanie J Brewster; Sara J Kowalczyk; Beth Rosen-Sheidley; Caroline McGowan; Andrew W Duda; Sharyn A Lincoln; Kathryn R Lowe; Alison Schonwald; Michael Robbins; Fuki Hisama; Robert Wolff; Ronald Becker; Ramzi Nasir; David K Urion; Jeff M Milunsky; Leonard Rappaport; James Gusella; Christopher Walsh; Bai-Lin Wu; David T Miller
Clinical genetic testing for patients with autism spectrum disorders.
Pediatrics 2010;125(4):e727-35.
2010: Jun Shen; Edward C Gilmore; Christine A Marshall; Mary Haddadin; John J Reynolds; Wafaa Eyaid; Adria Bodell; Brenda Barry; Danielle Gleason; Kathryn Allen; Vijay S Ganesh; Bernard S Chang; Arthur Grix; R Sean Hill; Meral Topcu; Keith W Caldecott; A James Barkovich; Christopher Walsh
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Nature genetics 2010;42(3):245-9.
2010: Dina Amrom; Christopher Walsh
Genetic malformations of the human frontal lobe.
Epilepsia 2010;51 Suppl 1():13-6.
2010: Shannon E Powers; Kenichiro Taniguchi; Weiwei Yen; Tiffany A Melhuish; Jun Shen; Christopher Walsh; Ann E Sutherland; David Wotton
Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation.
Development (Cambridge, England) 2010;137(2):249-59.
2009: Fuli Yu; Alon Keinan; Hua Chen; Russell J Ferland; R Sean Hill; Andre A Mignault; Christopher Walsh; David Reich
Detecting natural selection by empirical comparison to random regions of the genome.
Human molecular genetics 2009;18(24):4853-67.
2009: Ganeshwaran H Mochida; Muhammad Mahajnah; Anthony D Hill; Lina Basel-Vanagaite; Danielle Gleason; R Sean Hill; Adria Bodell; Moira Crosier; Rachel Straussberg; Christopher Walsh
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
American journal of human genetics 2009;85(6):897-902.
2009: A Poduri; Yuanjia Wang; D Gordon; S Barral-Rodriguez; Christie Barker-Cummings; A Ulgen; V Chitsazzadeh; R S Hill; N Risch; W Allen Hauser; Timothy A Pedley; Christopher Walsh; Ruth Ottman
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.
Neurology 2009;73(16):1264-72.
2009: Lorena Travaglini; Francesco Brancati; Tania Attie-Bitach; Sophie Audollent; Enrico Bertini; Josseline Kaplan; Isabelle Perrault; Miriam Iannicelli; Brunella Mancuso; Luciana Rigoli; Jean-Michel Rozet; Dominika Swistun; Jerlyn Tolentino; Bruno Dallapiccola; Joseph G Gleeson; Enza Maria Valente; A Zankl; R Leventer; P Grattan-Smith; A Janecke; M D'Hooghe; Y Sznajer; R Van Coster; L Demerleir; K Dias; C Moco; A Moreira; C Ae Kim; Gustavo Maegawa; D Petkovic; G M H Abdel-Salam; A Abdel-Aleem; M S Zaki; I Marti; S Quijano-Roy; S Sigaudy; P de Lonlay; S Romano; R Touraine; M Koenig; C Lagier-Tourenne; J Messer; P Collignon; N Wolf; H Philippi; Sophia Kitsiou-Tzeli; S Halldorsson; J Johannsdottir; P Ludvigsson; S R Phadke; V Udani; B Stuart; A Magee; D Lev; M Michelson; B Ben-Zeev; R Fischetto; F Benedicenti; F Stanzial; R Borgatti; P Accorsi; S Battaglia; E Fazzi; L Giordano; L Pinelli; L Boccone; S Bigoni; A Ferlini; M A Donati; G Caridi; M T Divizia; F Faravelli; G Ghiggeri; A Pessagno; M Briguglio; S Briuglia; C D Salpietro; G Tortorella; A Adami; P Castorina; F Lalatta; G Marra; D Riva; Barbara Scelsa; L Spaccini; Graziella Uziel; E Del Giudice; A M Laverda; K Ludwig; A Permunian; A Suppiej; S Signorini; C Uggetti; R Battini; M Di Giacomo; M R Cilio; M L Di Sabato; V Leuzzi; P Parisi; M Pollazzon; M Silengo; R De Vescovi; D Greco; Corrado Romano; M Cazzagon; A Simonati; A A Al-Tawari; L Bastaki; A Mégarbané; V Sabolic Avramovska; M M de Jong; P Stromme; R Koul; A Rajab; M Azam; C Barbot; L Martorell Sampol; B Rodriguez; I Pascual-Castroviejo; S Teber; B Anlar; S Comu; E Karaca; H Kayserili; A Yüksel; M Akcakus; L Al Gazali; L Sztriha; D Nicholl; C G Woods; C Bennett; J Hurst; E Sheridan; A Barnicoat; Raoul Hennekam; M Lees; E Blair; S Bernes; H Sanchez; A E Clark; E DeMarco; C Donahue; Elliott H Sherr; J Hahn; T D Sanger; T E Gallager; W B Dobyns; C Daugherty; K S Krishnamoorthy; D Sarco; Christopher Walsh; T McKanna; J Milisa; W K Chung; D C De Vivo; Hillary Raynes; R Schubert; A Seward; D G Brooks; A Goldstein; J Caldwell; E Finsecke; B L Maria; K Holden; R P Cruse; K J Swoboda; D Viskochil
Expanding CEP290 mutational spectrum in ciliopathies.
American journal of medical genetics. Part A 2009;149A(10):2173-80.
2009: Elena Parrini; Anna Rita Ferrari; Thomas Dorn; Christopher Walsh; Renzo Guerrini
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
Epilepsia 2009;50(6):1344-53.
2009: Zhenyong Huang; Yoko Kawase-Koga; Shuqun Zhang; Jane Visvader; Miklos Toth; Christopher Walsh; Tao Sun
Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control.
Developmental biology 2009;327(1):132-42.
2009: Russell J Ferland; Luis Federico Batiz; Jason Neal; Gewei Lian; Elizabeth Bundock; Jie Lu; Yi-Chun Hsiao; Rachel Diamond; Davide Mei; Alison H Banham; Philip J Brown; Charles R Vanderburg; Jeffrey Joseph; Jonathan L Hecht; Rebecca Folkerth; Renzo Guerrini; Christopher Walsh; Esteban M Rodriguez; Volney L Sheen
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.
Human molecular genetics 2009;18(3):497-516.
2008: Anas Alazami; Amr Al-Saif; Abdulaziz Al-Semari; Saeed Bohlega; Soumaya Zlitni; Fatema Alzahrani; Prashant Bavi; Namik Kaya; Dilek Colak; Hanif Khalak; Andy Baltus; Borut Peterlin; Sumita Danda; Kailash P Bhatia; Susanne A Schneider; Nadia A Sakati; Christopher Walsh; Futwan Al-Mohanna; Brian Meyer; Fowzan S Alkuraya
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
American journal of human genetics 2008;83(6):684-91.
2008: Eric M Morrow; Anna Kane; Donald C Goff; Christopher Walsh
Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment.
Schizophrenia research 2008;106(2-3):265-7.
2008: M Chiara Manzini; Danielle Gleason; Bernard S Chang; R Sean Hill; Brenda J Barry; Jennifer N Partlow; Annapurna Poduri; Sophie Currier; Patricia Galvin-Parton; Lawrence R Shapiro; Karen Schmidt; Jessica G Davis; Lina Basel-Vanagaite; Mohamed Z Seidahmed; Mustafa A Salih; William B Dobyns; Christopher Walsh
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Human mutation 2008;29(11):E231-41.
2008: Christopher Walsh; Eric M Morrow; John L R Rubenstein
Autism and brain development.
Cell 2008;135(3):396-400.
2008: Ashley S Pawlisz; Christopher Mutch; Anthony Wynshaw-Boris; Anjen Chenn; Christopher Walsh; Yuanyi Feng
Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination.
Human molecular genetics 2008;17(16):2441-55.
2008: Beatriz Cubelos; Alvaro Sebastián-Serrano; Seonhee Kim; Carmen Moreno-Ortiz; Juan Miguel Redondo; Christopher Walsh; Marta Nieto
Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone.
Cerebral cortex (New York, N.Y. : 1991) 2008;18(8):1758-70.
2008: Sibel Kantarci; Nicola K Ragge; N Simon Thomas; David O Robinson; Kristin M Noonan; Meaghan K Russell; Dian Donnai; F Lucy Raymond; Christopher Walsh; Patricia K Donahoe; Barbara R Pober
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
American journal of medical genetics. Part A 2008;146A(14):1842-7.
2008: Eric M Morrow; Seung-Yun Yoo; Steven W Flavell; Tae-kyung Kim; Yingxi Lin; Robert Sean Hill; Nahit M Mukaddes; Soher Balkhy; Generoso Gascon; Asif Hashmi; Samira Al-Saad; Janice Ware; Robert M Joseph; Rachel Greenblatt; Danielle Gleason; Julia A Ertelt; Kira A Apse; Adria Bodell; Jennifer N Partlow; Brenda Barry; Hui Yao; Kyriacos Markianos; Russell J Ferland; Michael E Greenberg; Christopher Walsh
Identifying autism loci and genes by tracing recent shared ancestry.
Science (New York, N.Y.) 2008;321(5886):218-23.
2008: Katharine J Sepp; Pengyu Hong; sofia lizarraga; Judy S Liu; Luis A Mejia; Christopher Walsh; Norbert Perrimon
Identification of neural outgrowth genes using genome-wide RNAi.
PLoS genetics 2008;4(7):e1000111.
2008: William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher Walsh; Richard J Leventer; Christa Lese Martin; Marzena Gajecka; Lisa Shaffer
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
American journal of medical genetics. Part A 2008;146A(13):1637-54.
2008: Beatriz Cubelos; Alvaro Sebastián-Serrano; Seonhee Kim; Juan Miguel Redondo; Christopher Walsh; Marta Nieto
Cux-1 and Cux-2 control the development of Reelin expressing cortical interneurons.
Developmental neurobiology 2008;68(7):917-25.
2008: Shihong Li; Zhaohui Jin; Samir Koirala; Lihong Bu; Lei Xu; Richard O Hynes; Christopher Walsh; Gabriel Corfas; Xianhua Piao
GPR56 regulates pial basement membrane integrity and cortical lamination.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(22):5817-26.
2008: Serap Teber; Taner Sezer; Mehpare Kafali; M Chiara Manzini; Berrin Konuk Yüksel; Mustafa Tekin; Suat Fitöz; Christopher Walsh; Gülhis Deda
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2008;12(2):133-6.
2008: Lauren A Weiss; Yiping Shen; Joshua M Korn; Dan E Arking; David T Miller; Ragnheidur Fossdal; Evald Saemundsen; Hreinn Stefansson; Manuel A R Ferreira; Todd Green; Orah S Platt; Douglas M Ruderfer; Christopher Walsh; David Altshuler; Aravinda Chakravarti; Rudolph E Tanzi; Kari Stefansson; Susan L Santangelo; James Gusella; Pamela Sklar; Bai-Lin Wu; Mark J Daly
Association between microdeletion and microduplication at 16p11.2 and autism.
The New England journal of medicine 2008;358(7):667-75.
2007: Bernard S Chang; T Katzir; Tianming Liu; K Corriveau; M Barzillai; Kira Apse; Adria Bodell; D Hackney; David Alsop; Stephen Wong; S Wong; Christopher Walsh
A structural basis for reading fluency: white matter defects in a genetic brain malformation.
Neurology 2007;69(23):2146-54.
2007: Anna Rajab; M Chiara Manzini; Ganeshwaran H Mochida; Christopher Walsh; M Elizabeth Ross
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.
American journal of medical genetics. Part A 2007;143A(23):2761-7.
2007: Yiping Shen; Mira Irons; David T Miller; Sau Wai Cheung; Va Lip; Xiaoming Sheng; Keith Tomaszewicz; Hong Shao; Hong Fang; Hung Siv Tang; Mira Irons; Christopher Walsh; Orah Platt; James Gusella; Bai-Lin Wu
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
Clinical chemistry 2007;53(12):2051-9.
2007: Yi Zhang; James A Ryan; Paul Dicesare; Judy Liu; Christopher Walsh; Zongbing You
Doublecortin is expressed in articular chondrocytes.
Biochemical and biophysical research communications 2007;363(3):694-700.
2007: Mauro D Zappaterra; Steven N Lisgo; Susan Lindsay; Steven P Gygi; Christopher Walsh; Bryan A Ballif
A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid.
Journal of proteome research 2007;6(9):3537-48.
2007: Zhaohui Jin; Ian Tietjen; Lihong Bu; Liqun Liu-Yesucevitz; Shantanu K Gaur; Christopher Walsh; Xianhua Piao
Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.
Human molecular genetics 2007;16(16):1972-85.
2007: Sibel Kantarci; Lihadh Al-Gazali; R Sean Hill; Dian Donnai; Graeme C M Black; Eric Bieth; Nicolas Chassaing; Didier Lacombe; koenraad devriendt; Ahmad Teebi; Maria Loscertales; Caroline Robson; Tianming Liu; David T MacLaughlin; Kristin M Noonan; Meaghan K Russell; Christopher Walsh; Patricia K Donahoe; Barbara R Pober
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Nature genetics 2007;39(8):957-9.
2007: Anthony Hill; Bernard S Chang; R Sean Hill; Levi A Garraway; Adria Bodell; William R Sellers; Christopher Walsh
A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.
American journal of medical genetics. Part A 2007;143A(15):1692-8.
2007: Jie Lu; Gewei Lian; Robert E Lenkinski; Alec De Grand; R Roy Vaid; Thomas Bryce; Marina Stasenko; Adele L Boskey; Christopher Walsh; Volney L Sheen
Filamin B mutations cause chondrocyte defects in skeletal development.
Human molecular genetics 2007;16(14):1661-75.
2007: Ian Tietjen; Adria Bodell; Kira Apse; Ashley M Mendonza; Bernard S Chang; Gary M Shaw; A James Barkovich; Edward J Lammer; Christopher Walsh
Comprehensive EMX2 genotyping of a large schizencephaly case series.
American journal of medical genetics. Part A 2007;143A(12):1313-6.
2007: Weining Lu; Fabiola Quintero-Rivera; Yanli Fan; Fowzan S Alkuraya; Diana J Donovan; Qiongchao Xi; Annick Turbe-Doan; Qing-Gang Li; Craig G Campbell; Alan L Shanske; Elliott H Sherr; Ayesha Ahmad; Roxana Peters; Bénédict Rilliet; Paloma Parvex; Alexander G Bassuk; David J Harris; Heather Ferguson; Chantal Kelly; Christopher Walsh; Richard M Gronostajski; koenraad devriendt; Anne Higgins; Azra H Ligon; Bradley J Quade; Cynthia C Morton; James Gusella; Richard L Maas
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PLoS genetics 2007;3(5):e80.
2007: Fuli Yu; R Sean Hill; Stephen F Schaffner; Pardis C Sabeti; Eric T Wang; Andre A Mignault; Russell J Ferland; Robert K Moyzis; Christopher Walsh; David Reich
Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens".
Science (New York, N.Y.) 2007;316(5823):370.
2007: Gaëlle Friocourt; Judy S Liu; Mary Antypa; Sonja Rakic; Christopher Walsh; John G Parnavelas
Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(14):3875-83.
2007: Bernard S Chang; Fusun Duzcan; Seonhee Kim; Mine Cinbis; Abha Aggarwal; Kira Apse; Osman Ozdel; Munevver Atmaca; Sevil Zencir; Huseyin Bagci; Christopher Walsh
The role of RELN in lissencephaly and neuropsychiatric disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(1):58-63.
2007: Teresa H Chae; Christopher Walsh
Genes that control the size of the cerebral cortex.
Novartis Foundation symposium 2007;288():79-90; discussion 91-8.
2007: Jason Neal; Masaya Takahashi; Matthew Silva; Grace Tiao; Christopher Walsh; Volney L Sheen
Insights into the gyrification of developing ferret brain by magnetic resonance imaging.
Journal of anatomy 2007;210(1):66-77.
2006: Yuanyi Feng; Ming Hui Chen; Ivan P G Moskowitz; Ashley M Mendonza; Luis Vidali; Fumihiko Nakamura; David J Kwiatkowski; Christopher Walsh
Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(52):19836-41.
2006: Jason Neal; Praveen B Raju; Adria Bodell; Kira Apse; Christopher Walsh; Volney L Sheen
Periventricular heterotopia with complete agenesis of the corpus callosum : a case report.
Journal of neurology 2006;253(10):1358-9.
2006: Jordan P Amadio; Christopher Walsh
Brain evolution and uniqueness in the human genome.
Cell 2006;126(6):1033-5.
2006: Tao Sun; Christopher Walsh
Molecular approaches to brain asymmetry and handedness.
Nature reviews. Neuroscience 2006;7(8):655-62.
2006: Jason Neal; Kira Apse; Mustafa Sahin; Christopher Walsh; Volney L Sheen
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia.
American journal of medical genetics. Part A 2006;140(15):1692-5.
2006: Lina Basel-Vanagaite; Liora Muncher; Rachel Straussberg; Metsada Pasmanik-Chor; Michal Yahav; Limor Rainshtein; Christopher Walsh; Nurit Magal; Ellen Taub; Valerie Drasinover; Hanna Shalev; Revital Attia; Gideon Rechavi; Amos J Simon; Mordechai Shohat
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Annals of neurology 2006;60(2):214-22.
2006: Anna Rajab; Seung-Yun Yoo; Aiman Abdulgalil; Salem Kathiri; Riaz Ahmed; Ganeshwaran H Mochida; Adria Bodell; A James Barkovich; Christopher Walsh
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
American journal of medical genetics. Part A 2006;140(14):1504-10.
2006: Tao Sun; Randall V Collura; Maryellen Ruvolo; Christopher Walsh
Genomic and evolutionary analyses of asymmetrically expressed genes in human fetal left and right cerebral cortex.
Cerebral cortex (New York, N.Y. : 1991) 2006;16 Suppl 1():i18-25.
2006: Elena Parrini; A Ramazzotti; William B Dobyns; Davide Mei; Francesca Moro; Pierangelo Veggiotti; Carla Marini; E H Brilstra; Bernardo Dalla Bernardina; L Goodwin; A Bodell; M C Jones; M Nangeroni; S Palmeri; E Said; Josemir W. Sander; Pasquale Striano; Yukitoshi Takahashi; L Van Maldergem; G Leonardi; M Wright; Christopher Walsh; Renzo Guerrini
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Brain : a journal of neurology 2006;129(Pt 7):1892-906.
2006: Volney L Sheen; Russell J Ferland; Megan Harney; R Sean Hill; Jason Neal; Alison H Banham; Philip Brown; Anjen Chenn; Joseph C Corbo; Jonathan Hecht; Rebecca Folkerth; Christopher Walsh
Impaired proliferation and migration in human Miller-Dieker neural precursors.
Annals of neurology 2006;60(1):137-44.
2006: Russell J Ferland; John N Gaitanis; Kira Apse; Umadevi Tantravahi; Christopher Walsh; Volney L Sheen
Periventricular nodular heterotopia and Williams syndrome.
American journal of medical genetics. Part A 2006;140(12):1305-11.
2006: Marion Gérard-Blanluet; Volney L Sheen; Kalotina Machinis; Jason Neal; Kira Apse; Claude Danan; Martine Sinico; Pierre Brugières; Katia Mage; Lanto Ratsimbazafy; Annie Elbez; Jean-Claude Janaud; Serge Amselem; Christopher Walsh; Férechté Encha-Razavi
Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.
American journal of medical genetics. Part A 2006;140(10):1041-6.
2006: Volney L Sheen; Russell J Ferland; Jason Neal; Megan Harney; R Sean Hill; Alison H Banham; Phillip Brown; Anjen Chenn; Joseph C Corbo; Jonathan Hecht; Rebecca Folkerth; Christopher Walsh
Neocortical neuronal arrangement in Miller Dieker syndrome.
Acta neuropathologica 2006;111(5):489-96.
2006: Jack W Tsao; Jason Neal; Kira Apse; Mark J Stephan; William B Dobyns; R Sean Hill; Christopher Walsh; Volney L Sheen
Cerebellar ataxia with progressive improvement.
Archives of neurology 2006;63(4):594-7.
2006: Lina Basel-Vanagaite; Revital Attia; Michal Yahav; R J Ferland; L Anteki; Christopher Walsh; T Olender; Rachel Straussberg; Nurit Magal; Ellen Taub; Valerie Drasinover; A Alkelai; D Bercovich; Gideon Rechavi; Amos J Simon; Mordechai Shohat
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
Journal of medical genetics 2006;43(3):203-10.
2006: Eric C Olson; Seonhee Kim; Christopher Walsh
Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppression.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(6):1767-75.
2006: Jie Lu; Grace Tiao; Rebecca Folkerth; Jonathan Hecht; Christopher Walsh; Volney L Sheen
Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia.
The Journal of comparative neurology 2006;494(3):476-84.
2006: Bernard S Chang; Kira Apse; R Caraballo; J Helen Cross; Ailsa McLellan; R D Jacobson; Kette D Valente; A James Barkovich; Christopher Walsh
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere.
Neurology 2006;66(1):133-5.
2006: Thomas A S Deuel; Judy S Liu; Joseph C Corbo; Seung-Yun Yoo; Lucy B Rorke-Adams; Christopher Walsh
Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth.
Neuron 2006;49(1):41-53.
2006: Marcelo R Masruha; Luís Otávio Sales Ferreira Caboclo; Henrique Carrete; Iscia L Cendes; Murilo G Rodrigues; Eliana Garzon; Elza Márcia Targas Yacubian; Américo C Sakamoto; Volney L Sheen; Megan Harney; Jason Neal; R Sean Hill; Adria Bodell; Christopher Walsh; Luiz Celso Pereira Vilanova
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.
Epilepsia 2006;47(1):211-4.
2005: Jeroen van Reeuwijk; M Janssen; Christa van den Elzen; D Beltran-Valero de Bernabé; Patrizia Sabatelli; Luciano Merlini; M Boon; Hans Scheffer; Martin Brockington; F Muntoni; M A Huynen; Aad Verrips; Christopher Walsh; P G Barth; Han G Brunner; Hans van Bokhoven
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
Journal of medical genetics 2005;42(12):907-12.
2005: Volney L Sheen; Christopher Walsh
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome.
Clinical medicine & research 2005;3(4):229-33.
2005: Xianhua Piao; Bernard S Chang; Adria Bodell; Katelyn Woods; Bruria Benzeev; Meral Topcu; Renzo Guerrini; Hadassa Goldberg-Stern; László Sztriha; William B Dobyns; A James Barkovich; Christopher Walsh
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Annals of neurology 2005;58(5):680-7.
2005: J Shen; Wafaa Eyaid; Ganeshwaran H Mochida; F Al-Moayyad; Adria Bodell; C Geoffrey Woods; Christopher Walsh
ASPM mutations identified in patients with primary microcephaly and seizures.
Journal of medical genetics 2005;42(9):725-9.
2005: Robert Sean Hill; Christopher Walsh
Molecular insights into human brain evolution.
Nature 2005;437(7055):64-7.
2005: Russell J Ferland; Xiaoyu Li; Janet E Buhlmann; Xia Bu; Christopher Walsh; Bing Lim
Characterization of Rho-GDIgamma and Rho-GDIalpha mRNA in the developing and mature brain with an analysis of mice with targeted deletions of Rho-GDIgamma.
Brain research 2005;1054(1):9-21.
2005: Natalay Kouprina; Adam Pavlicek; N Keith Collins; Megumi Nakano; Vladimir N Noskov; Jun-ichirou Ohzeki; Ganeshwaran H Mochida; John Risinger; Paul Goldsmith; Michele Gunsior; Greg Solomon; William Gersch; Jung-Hyun Kim; J Carl Barrett; Christopher Walsh; Jerzy Jurka; Hiroshi Masumoto; Vladimir Larionov
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.
Human molecular genetics 2005;14(15):2155-65.
2005: Tao Sun; Christina Patoine; Amir Abu-Khalil; Jane E Visvader; Eleanor Sum; Timothy J Cherry; Stuart H Orkin; Daniel Geschwind; Christopher Walsh
Early asymmetry of gene transcription in embryonic human left and right cerebral cortex.
Science (New York, N.Y.) 2005;308(5729):1794-8.
2005: Victor Soukoulis; Samyukta Reddy; Ryan D Pooley; Yuanyi Feng; Christopher Walsh; David M Bader
Cytoplasmic LEK1 is a regulator of microtubule function through its interaction with the LIS1 pathway.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(24):8549-54.
2005: Ian Tietjen; Füsun Erdogan; Sophie Currier; Kira Apse; Bernard S Chang; R Sean Hill; Christine K Lee; Christopher Walsh
EMX2-independent familial schizencephaly: clinical and genetic analyses.
American journal of medical genetics. Part A 2005;135(2):166-70.
2005: Jun Shen; Christopher Walsh
Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.
Molecular and cellular biology 2005;25(9):3639-47.
2005: Jacquelyn Bond; Emma Roberts; Kelly Springell; sofia lizarraga; Sophia Lizarraga; Sheila Scott; Julie Higgins; Daniel J Hampshire; Ewan E Morrison; Gabriella F Leal; Elias O Silva; Suzana M R Costa; Diana Baralle; Michela Raponi; Gulshan Karbani; Yasmin Rashid; Hussain Jafri; Christopher Bennett; Peter Corry; Christopher Walsh; C Geoffrey Woods
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Nature genetics 2005;37(4):353-5.
2005: Bernard S Chang; J Ly; B Appignani; Adria Bodell; Kira Apse; R S Ravenscroft; Volney L Sheen; M J Doherty; D B Hackney; M O'Connor; A M Galaburda; Christopher Walsh
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia.
Neurology 2005;64(5):799-803.
2005: Sophie C Currier; Christine K Lee; Bernard S Chang; Adria Bodell; G Shashidhar Pai; Leela Job; Lieven Lagae; Lihadh Al-Gazali; Wafaa Eyaid; Greg Enns; William B Dobyns; Christopher Walsh
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
American journal of medical genetics. Part A 2005;133A(1):53-7.
2005: Volney L Sheen; A Jansen; M H Chen; E Parrini; T Morgan; R Ravenscroft; V Ganesh; T Underwood; J Wiley; R Leventer; R R Vaid; D E Ruiz; Grover M Hutchins; J Menasha; J Willner; Y Geng; K W Gripp; L Nicholson; E Berry-Kravis; A Bodell; K Apse; R S Hill; F Dubeau; F Andermann; J Barkovich; E Andermann; Yin Yao Shugart; P Thomas; M Viri; P Veggiotti; S Robertson; R Guerrini; Christopher Walsh
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Neurology 2005;64(2):254-62.
2004: Jaime Imitola; Khadir Raddassi; Kook In Park; Franz-Josef Mueller; Marta Nieto; yang teng; Dan Frenkel; Jianxue Li; Richard L Sidman; Christopher Walsh; Evan Y Snyder; Samia J Khoury
Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1alpha/CXC chemokine receptor 4 pathway.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(52):18117-22.
2004: Jon Clardy; Christopher Walsh
Lessons from natural molecules.
Nature 2004;432(7019):829-37.
2004: Marta Nieto; Edwin S Monuki; Hua Tang; Jaime Imitola; Nicole Haubst; Samia J Khoury; Jim Cunningham; Magdalena Gotz; Christopher Walsh
Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex.
The Journal of comparative neurology 2004;479(2):168-80.
2004: Yuanyi Feng; Christopher Walsh
The many faces of filamin: a versatile molecular scaffold for cell motility and signalling.
Nature cell biology 2004;6(11):1034-8.
2004: Yuanyi Feng; Christopher Walsh
Mitotic spindle regulation by Nde1 controls cerebral cortical size.
Neuron 2004;44(2):279-93.
2004: Russell J Ferland; Wafaa Eyaid; Randall V Collura; Laura D Tully; R Sean Hill; Doha Al-Nouri; Ahmed Al-Rumayyan; Meral Topcu; Generoso Gascon; Adria Bodell; Yin Yao Shugart; Maryellen Ruvolo; Christopher Walsh
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Nature genetics 2004;36(9):1008-13.
2004: Xianhua Piao; Christopher Walsh
A novel signaling mechanism in brain development.
Pediatric research 2004;56(3):309-10.
2004: Volney L Sheen; Lina Basel-Vanagaite; Jean R Goodman; Ingrid E Scheffer; Adria Bodell; Vijay S Ganesh; Robert Ravenscroft; R Sean Hill; Timothy J Cherry; Yin Yao Shugart; James Barkovich; Rachel Straussberg; Christopher Walsh
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.
Brain & development 2004;26(5):326-34.
2004: Ganeshwaran H Mochida; Anna Rajab; Wafaa Eyaid; A Lu; D Al-Nouri; Kenjiro Kosaki; mehrdad noruzinia; P Sarda; J Ishihara; Adria Bodell; Kira Apse; Christopher Walsh
Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
Journal of medical genetics 2004;41(6):e87.
2004: Bernard S Chang; Xianhua Piao; C Giannini; G D Cascino; I Scheffer; C Geoffrey Woods; Meral Topcu; K Tezcan; Adria Bodell; R J Leventer; A James Barkovich; P Ellen Grant; Christopher Walsh
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.
Neurology 2004;62(10):1722-8.
2004: John N Gaitanis; Christopher Walsh
Genetics of disorders of cortical development.
Neuroimaging clinics of North America 2004;14(2):219-29, viii.
2004: Ganeshwaran H Mochida; Christopher Walsh
Genetic basis of developmental malformations of the cerebral cortex.
Archives of neurology 2004;61(5):637-40.
2004: Natalay Kouprina; Adam Pavlicek; Ganeshwaran H Mochida; Greg Solomon; William Gersch; Young-Ho Yoon; Randall V Collura; Maryellen Ruvolo; J Carl Barrett; C Geoffrey Woods; Christopher Walsh; Jerzy Jurka; Vladimir Larionov
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion.
PLoS biology 2004;2(5):E126.
2004: Xianhua Piao; R Sean Hill; Adria Bodell; Bernard S Chang; Lina Basel-Vanagaite; Rachel Straussberg; William B Dobyns; Bassam Qasrawi; Robin M Winter; A Micheil Innes; Thomas Voit; M Elizabeth Ross; Jacques L Michaud; Jean-Claude Déscarie; A James Barkovich; Christopher Walsh
G protein-coupled receptor-dependent development of human frontal cortex.
Science (New York, N.Y.) 2004;303(5666):2033-6.
2004: Teresa H Chae; Seonhee Kim; Karla E Marz; Phyllis I Hanson; Christopher Walsh
The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate.
Nature genetics 2004;36(3):264-70.
2004: Barry Dickson; Christopher Walsh
Development.
Current opinion in neurobiology 2004;14(1):1-5.
2004: Lina Basel-Vanagaite; Rachel Straussberg; H Ovadia; A Kaplan; Nurit Magal; Z Shorer; H Shalev; Christopher Walsh; Mordechai Shohat
Infantile bilateral striatal necrosis maps to chromosome 19q.
Neurology 2004;62(1):87-90.
2004: Volney L Sheen; Vijay S Ganesh; Meral Topcu; Guillaume Sebire; Adria Bodell; R Sean Hill; P Ellen Grant; Yin Yao Shugart; Jaime Imitola; Samia J Khoury; Renzo Guerrini; Christopher Walsh
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.
Nature genetics 2004;36(1):69-76.
2003: Bernard S Chang; Christopher Walsh
Mapping form and function in the human brain: the emerging field of functional neuroimaging in cortical malformations.
Epilepsy & behavior : E&B 2003;4(6):618-25.
2003: Jacquelyn Bond; Sheila Scott; Daniel J Hampshire; Kelly Springell; Peter Corry; Marc J Abramowicz; Ganeshwaran H Mochida; Raoul Hennekam; Eamonn R Maher; Jean-Pierre Fryns; Abdulrahman Alswaid; Hussain Jafri; Yasmin Rashid; Ammar F Mubaidin; Christopher Walsh; Emma Roberts; C Geoffrey Woods
Protein-truncating mutations in ASPM cause variable reduction in brain size.
American journal of human genetics 2003;73(5):1170-7.
2003: Christopher Walsh
Where will new antibiotics come from?
Nature reviews. Microbiology 2003;1(1):65-70.
2003: Volney L Sheen; Christopher Walsh
Developmental genetic malformations of the cerebral cortex.
Current neurology and neuroscience reports 2003;3(5):433-41.
2003: Christopher Walsh; CAREN MEYERS; Heather C Losey
Antibiotic glycosyltransferases: antibiotic maturation and prospects for reprogramming.
Journal of medicinal chemistry 2003;46(16):3425-36.
2003: Anjen Chenn; Christopher Walsh
Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice.
Cerebral cortex (New York, N.Y. : 1991) 2003;13(6):599-606.
2003: Anna Rajab; Ganeshwaran H Mochida; Anthony Hill; Vijay S Ganesh; Adria Bodell; A Riaz; P Ellen Grant; Yin Yao Shugart; Christopher Walsh
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
Neurology 2003;60(10):1664-7.
2003: Russell J Ferland; Timothy J Cherry; Patricia O Preware; Edward Morrisey; Christopher Walsh
Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.
The Journal of comparative neurology 2003;460(2):266-79.
2003: Allana Lee; Michelle Maldonado; Marianna Baybis; Christopher Walsh; Bernd Scheithauer; Raymond S Yeung; Jack M Parent; Howard L Weiner; Peter B Crino
Markers of cellular proliferation are expressed in cortical tubers.
Annals of neurology 2003;53(5):668-73.
2003: Bernard S Chang; Xianhua Piao; Adria Bodell; Lina Basel-Vanagaite; Rachel Straussberg; William B Dobyns; Bassam Qasrawi; Robin M Winter; A Micheil Innes; Thomas Voit; P Ellen Grant; A James Barkovich; Christopher Walsh
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Annals of neurology 2003;53(5):596-606.
2003: Myung Hee Kim; Tomasz Cierpicki; Urszula Derewenda; Daniel Krowarsch; Yuanyi Feng; Yancho Devedjiev; Zbigniew Dauter; Christopher Walsh; Jacek Otlewski; John H Bushweller; Zygmunt S Derewenda
The DCX-domain tandems of doublecortin and doublecortin-like kinase.
Nature structural biology 2003;10(5):324-33.
2003: Volney L Sheen; Meral Topçu; SF Berkovic; Dilek Yalnizoglu; Ilan Blatt; Adria Bodell; R Sean Hill; Vijay S Ganesh; T J Cherry; Yin Yao Shugart; Christopher Walsh
Autosomal recessive form of periventricular heterotopia.
Neurology 2003;60(7):1108-12.
2003: Volney L Sheen; James W Wheless; Adria Bodell; E Braverman; Philip D Cotter; K A Rauen; O Glenn; Kara Weisiger; Seymour Packman; Christopher Walsh; Elliott H Sherr
Periventricular heterotopia associated with chromosome 5p anomalies.
Neurology 2003;60(6):1033-6.
2003: Sarah M Teillon; Glenn Yiu; Christopher Walsh
Reelin is expressed in the accessory olfactory system, but is not a guidance cue for vomeronasal axons.
Brain research. Developmental brain research 2003;140(2):303-7.
2003: Marcella Zollino; Cesare Colosimo; Orsetta Zuffardi; Elena Rossi; Alessandra Tosolini; Christopher Walsh; Giovanni Neri
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.
American journal of medical genetics. Part A 2003;117A(1):65-71.
2002: Akiyoshi Kakita; Shintaro Hayashi; Francesca Moro; Renzo Guerrini; Tsunenori Ozawa; Koji Ono; Shigeki Kameyama; Christopher Walsh; Hitoshi Takahashi
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.
Acta neuropathologica 2002;104(6):649-57.
2002: Volney L Sheen; Yuanyi Feng; Donna Graham; Toshiro Takafuta; Sandor S Shapiro; Christopher Walsh
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.
Human molecular genetics 2002;11(23):2845-54.
2002: Daniel Beltrán-Valero de Bernabé; Sophie Currier; Alice Steinbrecher; Jacopo Celli; Ellen van Beusekom; Bert van der Zwaag; Hulya Kayserili; Luciano Merlini; David Chitayat; William B Dobyns; Bru Cormand; Anna-Elina Lehesjoki; Jesús Cruces; Thomas Voit; Christopher Walsh; Hans van Bokhoven; Han G Brunner
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
American journal of human genetics 2002;71(5):1033-43.
2002: Jacquelyn Bond; Emma Roberts; Ganeshwaran H Mochida; Daniel J Hampshire; Sheila Scott; Jon M Askham; Kelly Springell; Meera Mahadevan; Yanick J Crow; Alexander F Markham; Christopher Walsh; C Geoffrey Woods
ASPM is a major determinant of cerebral cortical size.
Nature genetics 2002;32(2):316-20.
2002: Joseph C Corbo; Thomas A Deuel; Jeffrey M Long; Patricia LaPorte; Elena Tsai; Anthony Wynshaw-Boris; Christopher Walsh
Doublecortin is required in mice for lamination of the hippocampus but not the neocortex.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2002;22(17):7548-57.
2002: Anjen Chenn; Christopher Walsh
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors.
Science (New York, N.Y.) 2002;297(5580):365-9.
2002: Eric C Olson; Christopher Walsh
Smooth, rough and upside-down neocortical development.
Current opinion in genetics & development 2002;12(3):320-7.
2002: Christopher B Reid; Christopher Walsh
Evidence of common progenitors and patterns of dispersion in rat striatum and cerebral cortex.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2002;22(10):4002-14.
2002: Teresa H Chae; Kristina M Allen; Muriel T Davisson; Hope O Sweet; Christopher Walsh
Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7.
Mammalian genome : official journal of the International Mammalian Genome Society 2002;13(5):239-44.
2002: Xianhua Piao; Lina Basel-Vanagaite; Rachel Straussberg; P Ellen Grant; Elizabeth W Pugh; Kimberly F Doheny; Betty Q Doan; Susan E Hong; Yin Yao Shugart; Christopher Walsh
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.
American journal of human genetics 2002;70(4):1028-33.
2001: E S Monuki; F D Porter; Christopher Walsh
Patterning of the dorsal telencephalon and cerebral cortex by a roof plate-Lhx2 pathway.
Neuron 2001;32(4):591-604.
2001: E S Monuki; Christopher Walsh
Mechanisms of cerebral cortical patterning in mice and humans.
Nature neuroscience 2001;4 Suppl():1199-206.
2001: M McCarthy; Daniel Turnbull; Christopher Walsh; Gord Fishell
Telencephalic neural progenitors appear to be restricted to regional and glial fates before the onset of neurogenesis.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2001;21(17):6772-81.
2001: Volney L Sheen; Peter DIxon; JW Fox; Susan E Hong; L Kinton; S M Sisodiya; J S Duncan; F Dubeau; IE Scheffer; Steven C Schachter; Andrew Wilner; R Henchy; P Crino; K Kamuro; F DiMario; M Berg; R Kuzniecky; A J Cole; Edward B Bromfield; M Biber; Donald L Schomer; James W Wheless; K Silver; G H Mochida; SF Berkovic; F Andermann; Eva Andermann; William B Dobyns; Nicholas W Wood; Christopher Walsh
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Human molecular genetics 2001;10(17):1775-83.
2001: Y Feng; Christopher Walsh
Protein-protein interactions, cytoskeletal regulation and neuronal migration.
Nature reviews. Neuroscience 2001;2(6):408-16.
2001: G H Mochida; Christopher Walsh
Molecular genetics of human microcephaly.
Current opinion in neurology 2001;14(2):151-6.
2001: A James Barkovich; Erin M Simon; Christopher Walsh
Callosal agenesis with cyst: a better understanding and new classification.
Neurology 2001;56(2):220-7.
2001: Christopher Walsh
Enabling the chemistry of life.
Nature 2001;409(6817):226-31.
2001: M E Ross; Christopher Walsh
Human brain malformations and their lessons for neuronal migration.
Annual review of neuroscience 2001;24():1041-70.
2000: Peter Lin; Joseph G Gleeson; Joseph C Corbo; LA Flanagan; Christopher Walsh
DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2000;20(24):9152-61.
2000: Yuanyi Feng; E C Olson; P Todd Stukenberg; LA Flanagan; M W Kirschner; Christopher Walsh
LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome.
Neuron 2000;28(3):665-79.
2000: K R Taylor; Alison K Holzer; J. Fernando Bazan; Christopher Walsh; Joseph G Gleeson
Patient mutations in doublecortin define a repeated tubulin-binding domain.
The Journal of biological chemistry 2000;275(44):34442-50.
2000: Tina Young Poussaint; JW Fox; William B Dobyns; R Radtke; IE Scheffer; SF Berkovic; Patrick D Barnes; PR Huttenlocher; Christopher Walsh
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
Pediatric radiology 2000;30(11):748-55.
2000: Susan E Hong; Yin Yao Shugart; D T Huang; S A Shahwan; P Ellen Grant; J O Hourihane; N D Martin; Christopher Walsh
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
Nature genetics 2000;26(1):93-6.
2000: Joseph G Gleeson; Sharon Minnerath; R I Kuzniecky; William B Dobyns; I D Young; M Elizabeth Ross; Christopher Walsh
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
American journal of human genetics 2000;67(3):574-81.
2000: Christopher Walsh
Molecular mechanisms that confer antibacterial drug resistance.
Nature 2000;406(6797):775-81.
2000: Thierry Bienvenu; Vincent des Portes; N McDonell; Alain Carrié; Ramzi Zemni; Philippe Couvert; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; K Allen; Christopher Walsh; J Boué; Axel Kahn; Jamel Chelly; Cherif Beldjord
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
American journal of medical genetics 2000;93(4):294-8.
2000: Joseph G Gleeson; Christopher Walsh
Neuronal migration disorders: from genetic diseases to developmental mechanisms.
Trends in neurosciences 2000;23(8):352-9.
2000: L Dulabon; E C Olson; M G Taglienti; S Eisenhuth; Barbara McGrath; Christopher Walsh; Jordan A Kreidberg; Eva Anton
Reelin binds alpha3beta1 integrin and inhibits neuronal migration.
Neuron 2000;27(1):33-44.
2000: E S Monuki; Christopher Walsh
Proto-mapping the areas of cerebral cortex: transcription factors make the grade.
Nature neuroscience 2000;3(7):640-1.
2000: Christopher Walsh; A M Goffinet
Potential mechanisms of mutations that affect neuronal migration in man and mouse.
Current opinion in genetics & development 2000;10(3):270-4.
2000: Pierre Vanderhaeghen; Q Lu; Neal Prakash; Jonas Frisén; Christopher Walsh; Ron D Frostig; John G Flanagan
A mapping label required for normal scale of body representation in the cortex.
Nature neuroscience 2000;3(4):358-65.
2000: Joseph G Gleeson; R F Luo; P Ellen Grant; Renzo Guerrini; PR Huttenlocher; M J Berg; S Ricci; R Cusmai; James W Wheless; SF Berkovic; IE Scheffer; William B Dobyns; Christopher Walsh
Genetic and neuroradiological heterogeneity of double cortex syndrome.
Annals of neurology 2000;47(2):265-9.
2000: Philip A Schwartzkroin; Christopher Walsh
Cortical malformations and epilepsy.
Mental retardation and developmental disabilities research reviews 2000;6(4):268-80.
2000: Christopher Walsh
Genetics of neuronal migration in the cerebral cortex.
Mental retardation and developmental disabilities research reviews 2000;6(1):34-40.
1999: Sergei N Illarioshkin; Kristina M Allen; Joseph G Gleeson; S Tsuji; T Ikeuchi; Elena D Markova; Christopher Walsh; Irina A Ivanova-Smolenskaya
Studies of the candidate genes in X-linked congenital cerebellar hypoplasia.
Journal of neurology 1999;246(12):1177-80.
1999: Anjen Chenn; Christopher Walsh
Perspectives: neurobiology. Cranking it up a notch.
Science (New York, N.Y.) 1999;286(5440):689-90.
1999: Kristina M Allen; Christopher Walsh
Genes that regulate neuronal migration in the cerebral cortex.
Epilepsy research 1999;36(2-3):143-54.
1999: M L Ware; Sohail F Tavazoie; CB Reid; Christopher Walsh
Coexistence of widespread clones and large radial clones in early embryonic ferret cortex.
Cerebral cortex (New York, N.Y. : 1991) 1999;9(6):636-45.
1999: William B Dobyns; C L Truwit; M Elizabeth Ross; N Matsumoto; Daniela T Pilz; David Ledbetter; Joseph G Gleeson; Christopher Walsh; A J Barkovich
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Neurology 1999;53(2):270-7.
1999: J W Fox; Christopher Walsh
Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex.
American journal of human genetics 1999;65(1):19-24.
1999: Joseph G Gleeson; Peter Lin; LA Flanagan; Christopher Walsh
Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons.
Neuron 1999;23(2):257-71.
1999: Christopher Walsh
Genetic malformations of the human cerebral cortex.
Neuron 1999;23(1):19-29.
1999: Joseph G Gleeson; Sharon Minnerath; JW Fox; Kristina M Allen; R F Luo; Susan E Hong; M J Berg; R Kuzniecky; Pamela Reitnauer; Renato Borgatti; A P Mira; Renzo Guerrini; Gregory L Holmes; C M Rooney; SF Berkovic; IE Scheffer; edward cooper; S Ricci; R Cusmai; Thomas Crawford; R Leroy; Eva Andermann; James W Wheless; William B Dobyns; Christopher Walsh
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Annals of neurology 1999;45(2):146-53.
1999: CB Reid; I Liang; Christopher Walsh
Clonal mixing, clonal restriction, and specification of cell types in the developing rat olfactory bulb.
The Journal of comparative neurology 1999;403(1):106-18.
1998: JW Fox; E D Lamperti; Y Z Ekşioğlu; Susan E Hong; Yuanyi Feng; D A Graham; IE Scheffer; William B Dobyns; B A Hirsch; R A Radtke; SF Berkovic; PR Huttenlocher; Christopher Walsh
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Neuron 1998;21(6):1315-25.
1998: Daniela T Pilz; N Matsumoto; Sharon Minnerath; P Mills; Joseph G Gleeson; Kristina M Allen; Christopher Walsh; A J Barkovich; William B Dobyns; David Ledbetter; M Elizabeth Ross
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Human molecular genetics 1998;7(13):2029-37.
1998: Kristina M Allen; Joseph G Gleeson; S M Shoup; Christopher Walsh
A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin (DCX) and PAK3.
Genomics 1998;52(2):214-8.
1998: Kristina M Allen; Joseph G Gleeson; Shubha Bagrodia; M W Partington; J C MacMillan; R A Cerione; J C Mulley; Christopher Walsh
PAK3 mutation in nonsyndromic X-linked mental retardation.
Nature genetics 1998;20(1):25-30.
1998: Christopher Walsh
LISsen up!
Nature genetics 1998;19(4):307-8.
1998: Michel J Berg; Giovanni Schifitto; James M Powers; C Martinez-Capolino; C T Fong; Gary J Myers; Leon G Epstein; Christopher Walsh
X-linked female band heterotopia-male lissencephaly syndrome.
Neurology 1998;50(4):1143-6.
1998: Joseph G Gleeson; Kristina M Allen; JW Fox; E D Lamperti; SF Berkovic; IE Scheffer; edward cooper; William B Dobyns; Sharon Minnerath; M Elizabeth Ross; Christopher Walsh
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Cell 1998;92(1):63-72.
1997: J L González; C J Russo; Dan Goldowitz; Hope O Sweet; Muriel T Davisson; Christopher Walsh
Birthdate and cell marker analysis of scrambler: a novel mutation affecting cortical development with a reeler-like phenotype.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1997;17(23):9204-11.
1997: M L Ware; JW Fox; J L González; N M Davis; Catherine Lambert de Rouvroit; C J Russo; Streamson Chua Jr.; André M Goffinet; Christopher Walsh
Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse.
Neuron 1997;19(2):239-49.
1997: CB Reid; Sohail F Tavazoie; Christopher Walsh
Clonal dispersion and evidence for asymmetric cell division in ferret cortex.
Development (Cambridge, England) 1997;124(12):2441-50.
1997: M Elizabeth Ross; Kristina M Allen; A K Srivastava; T Featherstone; Joseph G Gleeson; B Hirsch; B N Harding; Eva Andermann; R Abdullah; M Berg; D Czapansky-Bielman; D J Flanders; Renzo Guerrini; J Motté; A P Mira; IE Scheffer; SF Berkovic; F Scaravilli; R A King; David Ledbetter; David Schlessinger; William B Dobyns; Christopher Walsh
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Human molecular genetics 1997;6(4):555-62.
1996: William B Dobyns; E Andermann; Frederick Andermann; D Czapansky-Beilman; F Dubeau; Olivier Dulac; R Guerrini; B Hirsch; David Ledbetter; N S Lee; J Motte; J M Pinard; R A Radtke; M Elizabeth Ross; Donatella Tampieri; Christopher Walsh; Charles L Truwit
X-linked malformations of neuronal migration.
Neurology 1996;47(2):331-9.
1996: C B Reid; Christopher Walsh
Early development of the cerebral cortex.
Progress in brain research 1996;108():17-30.
1996: Christopher Walsh
Neural development: identical twins separated at birth?
Current biology : CB 1996;6(1):26-8.
1996: Y Z Ekşioğlu; IE Scheffer; P Cardenas; J Knoll; F DiMario; G Ramsby; M Berg; K Kamuro; SF Berkovic; Geoffrey Duyk; J Parisi; P R Huttenlocher; Christopher Walsh
Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development.
Neuron 1996;16(1):77-87.