Publications

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.
bioRxiv : the preprint server for biology. 2024 Jan 22; Authors: Flores-Mendez M, Ohl L, Roule T, Zhou Y, Tintos-Hernández JA, Walsh K, Ortiz-González XR, Akizu N

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
HGG advances. 2023 Oct 12;4(4):100236 Epub 2023 Sep 3; Authors: Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR

Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.
Orphanet journal of rare diseases. 2023 Jun 12;18(1):149; Authors: Brimble E, Reyes KG, Kuhathaas K, Devinsky O, Ruzhnikov MRZ, Ortiz-Gonzalez XR, Scheffer I, Bahi-Buisson N, Olson H, FOXG1 Research Foundation

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
medRxiv : the preprint server for health sciences. 2023 Jan 31; Authors: Shieh JT, Tintos-Hernández JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genetics in medicine : official journal of the American College of Medical Genetics. 2022 Nov;24(11):2351-2366 Epub 2022 Sep 9; Authors: Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA

Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
American journal of medical genetics. Part A. 2022 Sep;188(9):2617-2626 Epub 2022 Jun 7; Authors: Dubbs H, Ortiz-Gonzalez X, Marsh ED

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Neurology. Genetics. 2021 Dec;7(6):e613 Epub 2021 Nov 15; Authors: Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G, PURA study group

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genetics in medicine : official journal of the American College of Medical Genetics. 2021 Oct;23(10):2016; Authors: Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Undiagnosed Diseases Network, Rush E, Pitt GS, Au PYB, Shashi V

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genetics in medicine : official journal of the American College of Medical Genetics. 2021 Oct;23(10):1922-1932 Epub 2021 Jun 23; Authors: Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Undiagnosed Diseases Network, Rush E, Pitt GS, Au PYB, Shashi V

Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy.
Brain communications. 2021;3(4):fcab215 Epub 2021 Sep 16; Authors: Tintos-Hernández JA, Santana A, Keller KN, Ortiz-González XR

ANKRD11 variants: KBG syndrome and beyond.
Clinical genetics. 2021 Aug;100(2):187-200 Epub 2021 May 14; Authors: Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ

Assessing seizure burden in pediatric epilepsy using an electronic medical record-based tool through a common data element approach.
Epilepsia. 2021 Jul;62(7):1617-1628 Epub 2021 Jun 2; Authors: Fitzgerald MP, Kaufman MC, Massey SL, Fridinger S, Prelack M, Ellis C, Ortiz-Gonzalez X, Fried LE, DiGiovine MP, CHOP Pediatric Epilepsy Program Collaborative, Melamed S, Malcolm M, Banwell B, Stephenson D, Witzman SM, Gonzalez A, Dlugos D, Kessler SK, Goldberg EM, Abend NS, Helbig I

Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
American journal of medical genetics. Part A. 2021 Jun;185(6):1700-1711 Epub 2021 Mar 10; Authors: Cuddapah VA, Dubbs HA, Adang L, Kugler SL, McCormick EM, Zolkipli-Cunningham Z, Ortiz-González XR, McCormack S, Zackai E, Licht DJ, Falk MJ, Marsh ED

Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
Journal of child neurology. 2021 Feb;36(2):93-98 Epub 2020 Sep 15; Authors: Abdelmoumen I, Jimenez S, Valencia I, Melvin J, Legido A, Diaz-Diaz MM, Griffith C, Massingham LJ, Yelton M, Rodríguez-Hernández J, Schnur RE, Walsh LE, Cristancho AG, Bergqvist CA, McWalter K, Mathieson I, Belbin GM, Kenny EE, Ortiz-Gonzalez XR, Schneider MC

Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?
Developmental neuroscience. 2021;43(3-4):222-229 Epub 2021 Aug 3; Authors: Ortiz-González XR

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)(1).
Autophagy. 2021 Jan;17(1):1-382 Epub 2021 Feb 8; Authors: Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R, Avagliano L, Ávalos Y, Aveic S, Aveleira CA, Avin-Wittenberg T, Aydin Y, Ayton S, Ayyadevara S, Azzopardi M, Baba M, Backer JM, Backues SK, Bae DH, Bae ON, Bae SH, Baehrecke EH, Baek A, Baek SH, Baek SH, Bagetta G, Bagniewska-Zadworna A, Bai H, Bai J, Bai X, Bai Y, Bairagi N, Baksi S, Balbi T, Baldari CT, Balduini W, Ballabio A, Ballester M, Balazadeh S, Balzan R, Bandopadhyay R, Banerjee S, Banerjee S, Bánréti Á, Bao Y, Baptista MS, Baracca A, Barbati C, Bargiela A, Barilà D, Barlow PG, Barmada SJ, Barreiro E, Barreto GE, Bartek J, Bartel B, Bartolome A, Barve GR, Basagoudanavar SH, Bassham DC, Bast RC Jr, Basu A, Batoko H, Batten I, Baulieu EE, Baumgarner BL, Bayry J, Beale R, Beau I, Beaumatin F, Bechara LRG, Beck GR Jr, Beers MF, Begun J, Behrends C, Behrens GMN, Bei R, Bejarano E, Bel S, Behl C, Belaid A, Belgareh-Touzé N, Bellarosa C, Belleudi F, Belló Pérez M, Bello-Morales R, Beltran JSO, Beltran S, Benbrook DM, Bendorius M, Benitez BA, Benito-Cuesta I, Bensalem J, Berchtold MW, Berezowska S, Bergamaschi D, Bergami M, Bergmann A, Berliocchi L, Berlioz-Torrent C, Bernard A, Berthoux L, Besirli CG, Besteiro S, Betin VM, Beyaert R, Bezbradica JS, Bhaskar K, Bhatia-Kissova I, Bhattacharya R, Bhattacharya S, Bhattacharyya S, Bhuiyan MS, Bhutia SK, Bi L, Bi X, Biden TJ, Bijian K, Billes VA, Binart N, Bincoletto C, Birgisdottir AB, Bjorkoy G, Blanco G, Blas-Garcia A, Blasiak J, Blomgran R, Blomgren K, Blum JS, Boada-Romero E, Boban M, Boesze-Battaglia K, Boeuf P, Boland B, Bomont P, Bonaldo P, Bonam SR, Bonfili L, Bonifacino JS, Boone BA, Bootman MD, Bordi M, Borner C, Bornhauser BC, Borthakur G, Bosch J, Bose S, Botana LM, Botas J, Boulanger CM, Boulton ME, Bourdenx M, Bourgeois B, Bourke NM, Bousquet G, Boya P, Bozhkov PV, Bozi LHM, Bozkurt TO, Brackney DE, Brandts CH, Braun RJ, Braus GH, Bravo-Sagua R, Bravo-San Pedro JM, Brest P, Bringer MA, Briones-Herrera A, Broaddus VC, Brodersen P, Brodsky JL, Brody SL, Bronson PG, Bronstein JM, Brown CN, Brown RE, Brum PC, Brumell JH, Brunetti-Pierri N, Bruno D, Bryson-Richardson RJ, Bucci C, Buchrieser C, Bueno M, Buitrago-Molina LE, Buraschi S, Buch S, Buchan JR, Buckingham EM, Budak H, Budini M, Bultynck G, Burada F, Burgoyne JR, Burón MI, Bustos V, Büttner S, Butturini E, Byrd A, Cabas I, Cabrera-Benitez S, Cadwell K, Cai J, Cai L, Cai Q, Cairó M, Calbet JA, Caldwell GA, Caldwell KA, Call JA, Calvani R, Calvo AC, Calvo-Rubio Barrera M, Camara NO, Camonis JH, Camougrand N, Campanella M, Campbell EM, Campbell-Valois FX, Campello S, Campesi I, Campos JC, Camuzard O, Cancino J, Candido de Almeida D, Canesi L, Caniggia I, Canonico B, Cantí C, Cao B, Caraglia M, Caramés B, Carchman EH, Cardenal-Muñoz E, Cardenas C, Cardenas L, Cardoso SM, Carew JS, Carle GF, Carleton G, Carloni S, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carosi JM, Carra S, Carrier A, Carrier L, Carroll B, Carter AB, Carvalho AN, Casanova M, Casas C, Casas J, Cassioli C, Castillo EF, Castillo K, Castillo-Lluva S, Castoldi F, Castori M, Castro AF, Castro-Caldas M, Castro-Hernandez J, Castro-Obregon S, Catz SD, Cavadas C, Cavaliere F, Cavallini G, Cavinato M, Cayuela ML, Cebollada Rica P, Cecarini V, Cecconi F, Cechowska-Pasko M, Cenci S, Ceperuelo-Mallafré V, Cerqueira JJ, Cerutti JM, Cervia D, Cetintas VB, Cetrullo S, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chakrabarti O, Chakraborty T, Chakraborty T, Chami M, Chamilos G, Chan DW, Chan EYW, Chan ED, Chan HYE, Chan HH, Chan H, Chan MTV, Chan YS, Chandra PK, Chang CP, Chang C, Chang HC, Chang K, Chao J, Chapman T, Charlet-Berguerand N, Chatterjee S, Chaube SK, Chaudhary A, Chauhan S, Chaum E, Checler F, Cheetham ME, Chen CS, Chen GC, Chen JF, Chen LL, Chen L, Chen L, Chen M, Chen MK, Chen N, Chen Q, Chen RH, Chen S, Chen W, Chen W, Chen XM, Chen XW, Chen X, Chen Y, Chen YG, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen ZS, Chen Z, Chen ZH, Chen ZJ, Chen Z, Cheng H, Cheng J, Cheng SY, Cheng W, Cheng X, Cheng XT, Cheng Y, Cheng Z, Chen Z, Cheong H, Cheong JK, Chernyak BV, Cherry S, Cheung CFR, Cheung CHA, Cheung KH, Chevet E, Chi RJ, Chiang AKS, Chiaradonna F, Chiarelli R, Chiariello M, Chica N, Chiocca S, Chiong M, Chiou SH, Chiramel AI, Chiurchiù V, Cho DH, Choe SK, Choi AMK, Choi ME, Choudhury KR, Chow NS, Chu CT, Chua JP, Chua JJE, Chung H, Chung KP, Chung S, Chung SH, Chung YL, Cianfanelli V, Ciechomska IA, Cifuentes M, Cinque L, Cirak S, Cirone M, Clague MJ, Clarke R, Clementi E, Coccia EM, Codogno P, Cohen E, Cohen MM, Colasanti T, Colasuonno F, Colbert RA, Colell A, Čolić M, Coll NS, Collins MO, Colombo MI, Colón-Ramos DA, Combaret L, Comincini S, Cominetti MR, Consiglio A, Conte A, Conti F, Contu VR, Cookson MR, Coombs KM, Coppens I, Corasaniti MT, Corkery DP, Cordes N, Cortese K, Costa MDC, Costantino S, Costelli P, Coto-Montes A, Crack PJ, Crespo JL, Criollo A, Crippa V, Cristofani R, Csizmadia T, Cuadrado A, Cui B, Cui J, Cui Y, Cui Y, Culetto E, Cumino AC, Cybulsky AV, Czaja MJ, Czuczwar SJ, D'Adamo S, D'Amelio M, D'Arcangelo D, D'Lugos AC, D'Orazi G, da Silva JA, Dafsari HS, Dagda RK, Dagdas Y, Daglia M, Dai X, Dai Y, Dai Y, Dal Col J, Dalhaimer P, Dalla Valle L, Dallenga T, Dalmasso G, Damme M, Dando I, Dantuma NP, Darling AL, Das H, Dasarathy S, Dasari SK, Dash S, Daumke O, Dauphinee AN, Davies JS, Dávila VA, Davis RJ, Davis T, Dayalan Naidu S, De Amicis F, De Bosscher K, De Felice F, De Franceschi L, De Leonibus C, de Mattos Barbosa MG, De Meyer GRY, De Milito A, De Nunzio C, De Palma C, De Santi M, De Virgilio C, De Zio D, Debnath J, DeBosch BJ, Decuypere JP, Deehan MA, Deflorian G, DeGregori J, Dehay B, Del Rio G, Delaney JR, Delbridge LMD, Delorme-Axford E, Delpino MV, Demarchi F, Dembitz V, Demers ND, Deng H, Deng Z, Dengjel J, Dent P, Denton D, DePamphilis ML, Der CJ, Deretic V, Descoteaux A, Devis L, Devkota S, Devuyst O, Dewson G, Dharmasivam M, Dhiman R, di Bernardo D, Di Cristina M, Di Domenico F, Di Fazio P, Di Fonzo A, Di Guardo G, Di Guglielmo GM, Di Leo L, Di Malta C, Di Nardo A, Di Rienzo M, Di Sano F, Diallinas G, Diao J, Diaz-Araya G, Díaz-Laviada I, Dickinson JM, Diederich M, Dieudé M, Dikic I, Ding S, Ding WX, Dini L, Dinić J, Dinic M, Dinkova-Kostova AT, Dionne MS, Distler JHW, Diwan A, Dixon IMC, Djavaheri-Mergny M, Dobrinski I, Dobrovinskaya O, Dobrowolski R, Dobson RCJ, Đokić J, Dokmeci Emre S, Donadelli M, Dong B, Dong X, Dong Z, Dorn Ii GW, Dotsch V, Dou H, Dou J, Dowaidar M, Dridi S, Drucker L, Du A, Du C, Du G, Du HN, Du LL, du Toit A, Duan SB, Duan X, Duarte SP, Dubrovska A, Dunlop EA, Dupont N, Durán RV, Dwarakanath BS, Dyshlovoy SA, Ebrahimi-Fakhari D, Eckhart L, Edelstein CL, Efferth T, Eftekharpour E, Eichinger L, Eid N, Eisenberg T, Eissa NT, Eissa S, Ejarque M, El Andaloussi A, El-Hage N, El-Naggar S, Eleuteri AM, El-Shafey ES, Elgendy M, Eliopoulos AG, Elizalde MM, Elks PM, Elsasser HP, Elsherbiny ES, Emerling BM, Emre NCT, Eng CH, Engedal N, Engelbrecht AM, Engelsen AST, Enserink JM, Escalante R, Esclatine A, Escobar-Henriques M, Eskelinen EL, Espert L, Eusebio MO, Fabrias G, Fabrizi C, Facchiano A, Facchiano F, Fadeel B, Fader C, Faesen AC, Fairlie WD, Falcó A, Falkenburger BH, Fan D, Fan J, Fan Y, Fang EF, Fang Y, Fang Y, Fanto M, Farfel-Becker T, Faure M, Fazeli G, Fedele AO, Feldman AM, Feng D, Feng J, Feng L, Feng Y, Feng Y, Feng W, Fenz Araujo T, Ferguson TA, Fernández ÁF, Fernandez-Checa JC, Fernández-Veledo S, Fernie AR, Ferrante AW Jr, Ferraresi A, Ferrari MF, Ferreira JCB, Ferro-Novick S, Figueras A, Filadi R, Filigheddu N, Filippi-Chiela E, Filomeni G, Fimia GM, Fineschi V, Finetti F, Finkbeiner S, Fisher EA, Fisher PB, Flamigni F, Fliesler SJ, Flo TH, Florance I, Florey O, Florio T, Fodor E, Follo C, Fon EA, Forlino A, Fornai F, Fortini P, Fracassi A, Fraldi A, Franco B, Franco R, Franconi F, Frankel LB, Friedman SL, Fröhlich LF, Frühbeck G, Fuentes JM, Fujiki Y, Fujita N, Fujiwara Y, Fukuda M, Fulda S, Furic L, Furuya N, Fusco C, Gack MU, Gaffke L, Galadari S, Galasso A, Galindo MF, Gallolu Kankanamalage S, Galluzzi L, Galy V, Gammoh N, Gan B, Ganley IG, Gao F, Gao H, Gao M, Gao P, Gao SJ, Gao W, Gao X, Garcera A, Garcia MN, Garcia VE, García-Del Portillo F, Garcia-Escudero V, Garcia-Garcia A, Garcia-Macia M, García-Moreno D, Garcia-Ruiz C, García-Sanz P, Garg AD, Gargini R, Garofalo T, Garry RF, Gassen NC, Gatica D, Ge L, Ge W, Geiss-Friedlander R, Gelfi C, Genschik P, Gentle IE, Gerbino V, Gerhardt C, Germain K, Germain M, Gewirtz DA, Ghasemipour Afshar E, Ghavami S, Ghigo A, Ghosh M, Giamas G, Giampietri C, Giatromanolaki A, Gibson GE, Gibson SB, Ginet V, Giniger E, Giorgi C, Girao H, Girardin SE, Giridharan M, Giuliano S, Giulivi C, Giuriato S, Giustiniani J, Gluschko A, Goder V, Goginashvili A, Golab J, Goldstone DC, Golebiewska A, Gomes LR, Gomez R, Gómez-Sánchez R, Gomez-Puerto MC, Gomez-Sintes R, Gong Q, Goni FM, González-Gallego J, Gonzalez-Hernandez T, Gonzalez-Polo RA, Gonzalez-Reyes JA, González-Rodríguez P, Goping IS, Gorbatyuk MS, Gorbunov NV, Görgülü K, Gorojod RM, Gorski SM, Goruppi S, Gotor C, Gottlieb RA, Gozes I, Gozuacik D, Graef M, Gräler MH, Granatiero V, Grasso D, Gray JP, Green DR, Greenhough A, Gregory SL, Griffin EF, Grinstaff MW, Gros F, Grose C, Gross AS, Gruber F, Grumati P, Grune T, Gu X, Guan JL, Guardia CM, Guda K, Guerra F, Guerri C, Guha P, Guillén C, Gujar S, Gukovskaya A, Gukovsky I, Gunst J, Günther A, Guntur AR, Guo C, Guo C, Guo H, Guo LW, Guo M, Gupta P, Gupta SK, Gupta S, Gupta VB, Gupta V, Gustafsson AB, Gutterman DD, H B R, Haapasalo A, Haber JE, Hać A, Hadano S, Hafrén AJ, Haidar M, Hall BS, Halldén G, Hamacher-Brady A, Hamann A, Hamasaki M, Han W, Hansen M, Hanson PI, Hao Z, Harada M, Harhaji-Trajkovic L, Hariharan N, Haroon N, Harris J, Hasegawa T, Hasima Nagoor N, Haspel JA, Haucke V, Hawkins WD, Hay BA, Haynes CM, Hayrabedyan SB, Hays TS, He C, He Q, He RR, He YW, He YY, Heakal Y, Heberle AM, Hejtmancik JF, Helgason GV, Henkel V, Herb M, Hergovich A, Herman-Antosiewicz A, Hernández A, Hernandez C, Hernandez-Diaz S, Hernandez-Gea V, Herpin A, Herreros J, Hervás JH, Hesselson D, Hetz C, Heussler VT, Higuchi Y, Hilfiker S, Hill JA, Hlavacek WS, Ho EA, Ho IHT, Ho PW, Ho SL, Ho WY, Hobbs GA, Hochstrasser M, Hoet PHM, Hofius D, Hofman P, Höhn A, Holmberg CI, Hombrebueno JR, Yi-Ren Hong CH, Hooper LV, Hoppe T, Horos R, Hoshida Y, Hsin IL, Hsu HY, Hu B, Hu D, Hu LF, Hu MC, Hu R, Hu W, Hu YC, Hu ZW, Hua F, Hua J, Hua Y, Huan C, Huang C, Huang C, Huang C, Huang C, Huang H, Huang K, Huang MLH, Huang R, Huang S, Huang T, Huang X, Huang YJ, Huber TB, Hubert V, Hubner CA, Hughes SM, Hughes WE, Humbert M, Hummer G, Hurley JH, Hussain S, Hussain S, Hussey PJ, Hutabarat M, Hwang HY, Hwang S, Ieni A, Ikeda F, Imagawa Y, Imai Y, Imbriano C, Imoto M, Inman DM, Inoki K, 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Walker MJ, Walker SA, Walter J, Wandosell FG, Wang B, Wang CY, Wang C, Wang C, Wang C, Wang CY, Wang D, Wang F, Wang F, Wang F, Wang G, Wang H, Wang H, Wang H, Wang HG, Wang J, Wang J, Wang J, Wang J, Wang K, Wang L, Wang L, Wang MH, Wang M, Wang N, Wang P, Wang P, Wang P, Wang P, Wang QJ, Wang Q, Wang QK, Wang QA, Wang WT, Wang W, Wang X, Wang X, Wang Y, Wang Y, Wang Y, Wang YY, Wang Y, Wang Y, Wang Y, Wang Y, Wang Z, Wang Z, Wang Z, Warnes G, Warnsmann V, Watada H, Watanabe E, Watchon M, Wawrzyńska A, Weaver TE, Wegrzyn G, Wehman AM, Wei H, Wei L, Wei T, Wei Y, Weiergräber OH, Weihl CC, Weindl G, Weiskirchen R, Wells A, Wen RH, Wen X, Werner A, Weykopf B, Wheatley SP, Whitton JL, Whitworth AJ, Wiktorska K, Wildenberg ME, Wileman T, Wilkinson S, Willbold D, Williams B, Williams RSB, Williams RL, Williamson PR, Wilson RA, Winner B, Winsor NJ, Witkin SS, Wodrich H, Woehlbier U, Wollert T, Wong E, Wong JH, Wong RW, Wong VKW, Wong WW, Wu AG, Wu C, Wu J, Wu J, Wu KK, Wu M, Wu SY, Wu S, Wu 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S, Zwerschke W, Brand-Saberi B, Dong XC, Kenchappa CS, Li Z, Lin Y, Oshima S, Rong Y, Sluimer JC, Stallings CL, Tong CK

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
European journal of human genetics : EJHG. 2020 Oct;28(10):1422-1431 Epub 2020 Jun 1; Authors: Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E

Intracranial calcifications in childhood: Part 1.
Pediatric radiology. 2020 Sep;50(10):1424-1447 Epub 2020 Jul 30; Authors: Gonçalves FG, Caschera L, Teixeira SR, Viaene AN, Pinelli L, Mankad K, Alves CAPF, Ortiz-Gonzalez XR, Andronikou S, Vossough A

Intracranial calcifications in childhood: Part 2.
Pediatric radiology. 2020 Sep;50(10):1448-1475 Epub 2020 Jul 8; Authors: Gonçalves FG, Caschera L, Teixeira SR, Viaene AN, Pinelli L, Mankad K, Alves CAPF, Ortiz-Gonzalez XR, Andronikou S, Vossough A

SPTBN4 Disorder.
. 1993; Authors: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Ortiz-Gonzalez X, Wierenga K

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
PloS one. 2019;14(9):e0221829 Epub 2019 Sep 3; Authors: Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ

Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A.
Cell stem cell. 2019 Aug 1;25(2):273-289.e5; Authors: Cardenas-Diaz FL, Osorio-Quintero C, Diaz-Miranda MA, Kishore S, Leavens K, Jobaliya C, Stanescu D, Ortiz-Gonzalez X, Yoon C, Chen CS, Haliyur R, Brissova M, Powers AC, French DL, Gadue P

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Neurogenetics. 2019 Aug;20(3):129-143 Epub 2019 Apr 30; Authors: Beck DB, Subramanian T, Vijayalingam S, Ezekiel UR, Donkervoort S, Yang ML, Dubbs HA, Ortiz-Gonzalez XR, Lakhani S, Segal D, Au M, Graham JM Jr, Verma S, Waggoner D, Shinawi M, Bönnemann CG, Chung WK, Chinnadurai G

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genetics in medicine : official journal of the American College of Medical Genetics. 2019 Aug;21(8):1897-1898; Authors: Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genetics in medicine : official journal of the American College of Medical Genetics. 2019 Apr;21(4):837-849 Epub 2018 Sep 12; Authors: Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
American journal of medical genetics. Part A. 2018 Dec;176(12):2710-2719 Epub 2018 Nov 18; Authors: Blackburn PR, Chacon-Camacho OF, Ortiz-González XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, Li D, Klee EW, Pichurin PN, Zenteno JC

Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy.
Neurology. Genetics. 2018 Aug;4(4):e256 Epub 2018 Jul 20; Authors: King MS, Thompson K, Hopton S, He L, Kunji ERS, Taylor RW, Ortiz-Gonzalez XR

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
American journal of human genetics. 2018 Jun 7;102(6):1158-1168 Epub 2018 May 31; Authors: Wang CC, Ortiz-González XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Human genetics. 2018 May;137(5):375-388 Epub 2018 May 8; Authors: Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
American journal of medical genetics. Part A. 2018 Apr;176(4):925-935 Epub 2018 Feb 13; Authors: Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK

NIPBL(+/-) haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.
Scientific reports. 2018 Jan 18;8(1):1056; Authors: Mills JA, Herrera PS, Kaur M, Leo L, McEldrew D, Tintos-Hernandez JA, Rajagopalan R, Gagne A, Zhang Z, Ortiz-Gonzalez XR, Krantz ID

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
American journal of human genetics. 2018 Jan 4;102(1):44-57 Epub 2017 Dec 21; Authors: Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Deciphering Developmental Disorders Study, Fliedner A, Gregor A, Sticht H, Zweier C

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Annals of neurology. 2018 Jan;83(1):153-165; Authors: Ortiz-González XR, Tintos-Hernández JA, Keller K, Li X, Foley AR, Bharucha-Goebel DX, Kessler SK, Yum SW, Crino PB, He M, Wallace DC, Bönnemann CG

Obituary: Jessica Anne Panzer, MD, PhD.
Pediatric neurology. 2017 Oct;75:4-5 Epub 2017 Jul 14; Authors: Ortiz-Gonzalez X, Goldberg EM, Banwell B

De novo GABRG2 mutations associated with epileptic encephalopathies.
Brain : a journal of neurology. 2017 Jan;140(1):49-67 Epub 2016 Nov 17; Authors: Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
American journal of human genetics. 2016 Oct 6;99(4):802-816 Epub 2016 Sep 8; Authors: Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Neurology. Genetics. 2016 Oct;2(5):e96 Epub 2016 Aug 22; Authors: Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM, Marsh E, Nangia S, Narayanan V, Ortiz-Gonzalez XR, Patterson MC, Pearl PL, Porter B, Ramsey K, McGinnis EL, Taglialatela M, Tracy M, Tran B, Venkatesan C, Weckhuysen S, Cooper EC

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
American journal of human genetics. 2016 Apr 7;98(4):772-81 Epub 2016 Mar 31; Authors: Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z, University of Washington Center for Mendelian Genomics, Bamshad MJ, Ortiz-Gonzalez XR, Tartaglia M, Chopra M, Doherty D

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
American journal of medical genetics. Part A. 2016 Feb;170A(2):297-305 Epub 2015 Dec 6; Authors: Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
American journal of human genetics. 2015 Sep 3;97(3):457-64 Epub 2015 Aug 20; Authors: Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK

Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration.
The Journal of clinical investigation. 2013 Dec;123(12):5389-400 Epub 2013 Nov 25; Authors: Musiek ES, Lim MM, Yang G, Bauer AQ, Qi L, Lee Y, Roh JH, Ortiz-Gonzalez X, Dearborn JT, Culver JP, Herzog ED, Hogenesch JB, Wozniak DF, Dikranian K, Giasson BI, Weaver DR, Holtzman DM, Fitzgerald GA

Focal cortical dysplasia is more common in boys than in girls.
Epilepsy & behavior : E&B. 2013 Apr;27(1):121-3 Epub 2013 Feb 13; Authors: Ortiz-González XR, Poduri A, Roberts CM, Sullivan JE, Marsh ED, Porter BE

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Proceedings of the National Academy of Sciences of the United States of America. 2013 Feb 26;110(9):3453-8 Epub 2013 Feb 11; Authors: Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-González XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC

Ganglioglioma arising from dysplastic cortex.
Epilepsia. 2011 Sep;52(9):e106-8 Epub 2011 Jun 10; Authors: Ortiz-González XR, Venneti S, Biegel JA, Rorke-Adams LB, Porter BE

Thymidine analogs are transferred from prelabeled donor to host cells in the central nervous system after transplantation: a word of caution.
Stem cells (Dayton, Ohio). 2006 Apr;24(4):1121-7 Epub 2005 Dec 22; Authors: Burns TC, Ortiz-González XR, Gutiérrez-Pérez M, Keene CD, Sharda R, Demorest ZL, Jiang Y, Nelson-Holte M, Soriano M, Nakagawa Y, Luquin MR, Garcia-Verdugo JM, Prósper F, Low WC, Verfaillie CM

Neural induction of adult bone marrow and umbilical cord stem cells.
Current neurovascular research. 2004 Jul;1(3):207-13; Authors: Ortiz-Gonzalez XR, Keene CD, Verfaillie CM, Low WC

Neural differentiation and incorporation of bone marrow-derived multipotent adult progenitor cells after single cell transplantation into blastocyst stage mouse embryos.
Cell transplantation. 2003;12(3):201-13; Authors: Keene CD, Ortiz-Gonzalez XR, Jiang Y, Largaespada DA, Verfaillie CM, Low WC

Pluripotency of mesenchymal stem cells derived from adult marrow.
Nature. 2002 Jul 4;418(6893):41-9 Epub 2002 Jun 20; Authors: Jiang Y, Jahagirdar BN, Reinhardt RL, Schwartz RE, Keene CD, Ortiz-Gonzalez XR, Reyes M, Lenvik T, Lund T, Blackstad M, Du J, Aldrich S, Lisberg A, Low WC, Largaespada DA, Verfaillie CM

An acid sensing ion channel (ASIC) localizes to small primary afferent neurons in rats.
Neuroreport. 1998 Apr 20;9(6):1109-13; Authors: Olson TH, Riedl MS, Vulchanova L, Ortiz-Gonzalez XR, Elde R

Intraplantar injection of hyaluronic acid at low pH into the rat hindpaw produces tissue acidosis and enhances withdrawal responses to mechanical stimuli.
Pain. 1998 Feb;74(2-3):225-34; Authors: Hamamoto DT, Ortiz-González XR, Honda JM, Kajander KC

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