specific developmental disorder

Literature (50)

Literature for DOID 0060038: specific developmental disorder

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Ethanol exposure affects gene expression in the embryonic organizer and reduces retinoic acid levels., Yelin R,Schyr RB,Kot H,Zins S,Frumkin A,Pillemer G,Fainsod A, Dev Biol. March 1, 2005; 279(1):1095-564X.
A critical role of Pax6 in alcohol-induced fetal microcephaly., Peng Y,Yang PH,Ng SS,Wong OG,Liu J,He ML,Kung HF,Lin MC, Neurobiol Dis. July 1, 2004; 16(2):1095-953X.
Catalase and peroxiredoxin 5 protect Xenopus embryos against alcohol-induced ocular anomalies., Peng Y,Yang PH,Guo Y,Ng SS,Liu J,Fung PC,Tay D,Ge J,He ML,Kung HF,Lin MC, Invest Ophthalmol Vis Sci. January 1, 2004; 45(1):1552-5783.
Craniofacial malformation in Xenopus laevis tadpoles caused by the exposure of early embryos to ethanol., Nakatsuji N, Teratology. October 1, 1983; 28(2):0040-3709.
Early molecular effects of ethanol during vertebrate embryogenesis., Yelin R,Kot H,Yelin D,Fainsod A, Differentiation. June 1, 2007; 75(5):1432-0436.
Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy., Wuttke TV,Penzien J,Fauler M,Seebohm G,Lehmann-Horn F,Lerche H,Jurkat-Rott K, J Physiol. January 15, 2008; 586(2):0022-3751.
Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A., Ogawa Y,Nonaka Y,Goto T,Ohnishi E,Hiramatsu T,Kii I,Yoshida M,Ikura T,Onogi H,Shibuya H,Hosoya T,Ito N,Hagiwara M, Nat Commun. October 5, 2010; 1:2041-1723.
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy., Lemke JR,Hendrickx R,Geider K,Laube B,Schwake M,Harvey RJ,James VM,Pepler A,Steiner I,Hörtnagel K,Neidhardt J,Ruf S,Wolff M,Bartholdi D,Caraballo R,Platzer K,Suls A,De Jonghe P,Biskup S,Weckhuysen S, Ann Neurol. January 1, 2014; 75(1):1531-8249.
The different effects on cranial and trunk neural crest cell behaviour following exposure to a low concentration of alcohol in vitro., Czarnobaj J,Bagnall KM,Bamforth JS,Milos NC, Arch Oral Biol. May 1, 2014; 59(5):1879-1506.
5-Mehtyltetrahydrofolate rescues alcohol-induced neural crest cell migration abnormalities., Shi Y,Shi Y,Li J,Chen C,Gong M,Chen Y,Chen Y,Liu Y,Chen J,Li T,Song W, Mol Brain. September 16, 2014; 7:1756-6606.
The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling., Iwasaki Y,Thomsen GH, Development. October 1, 2014; 141(19):1477-9129.
Transcriptional regulator PRDM12 is essential for human pain perception., Chen YC,Chen YC,Auer-Grumbach M,Matsukawa S,Zitzelsberger M,Themistocleous AC,Strom TM,Samara C,Moore AW,Cho LT,Young GT,Weiss C,Schabhüttl M,Stucka R,Schmid AB,Parman Y,Graul-Neumann L,Heinritz W,Passarge E,Watson RM,Hertz JM,Moog U,Baumgartner M,Valente EM,Pereira D,Restrepo CM,Katona I,Dusl M,Stendel C,Wieland T,Stafford F,Reimann F,von Au K,Finke C,Willems PJ,Nahorski MS,Shaikh SS,Carvalho OP,Nicholas AK,Karbani G,McAleer MA,Cilio MR,McHugh JC,Murphy SM,Irvine AD,Jensen UB,Windhager R,Weis J,Bergmann C,Rautenstrauss B,Baets J,De Jonghe P,Reilly MM,Kropatsch R,Kurth I,Chrast R,Michiue T,Bennett DL,Woods CG,Senderek J, Nat Genet. July 1, 2015; 47(7):1546-1718.
CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus., Bhattacharya D,Marfo CA,Li D,Lane M,Khokha MK, Dev Biol. December 15, 2015; 408(2):1095-564X.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome., Hempel A,Pagnamenta AT,Blyth M,Mansour S,McConnell V,Kou I,Ikegawa S,Tsurusaki Y,Matsumoto N,Lo-Castro A,Plessis G,Albrecht B,Battaglia A,Taylor JC,Howard MF,Keays D,Sohal AS,Kühl SJ,Kini U,McNeill A, J Med Genet. March 1, 2016; 53(3):1468-6244.
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females., Palmer EE,Stuhlmann T,Weinert S,Haan E,Van Esch H,Holvoet M,Boyle J,Leffler M,Raynaud M,Moraine C,van Bokhoven H,Kleefstra T,Kahrizi K,Najmabadi H,Ropers HH,Delgado MR,Sirsi D,Golla S,Sommer A,Pietryga MP,Chung WK,Wynn J,Rohena L,Bernardo E,Hamlin D,Faux BM,Grange DK,Manwaring L,Tolmie J,Joss S,Cobben JM,Duijkers FAM,Goehringer JM,Challman TD,Hennig F,Fischer U,Grimme A,Suckow V,Musante L,Nicholl J,Shaw M,Lodh SP,Niu Z,Rosenfeld JA,Stankiewicz P,Jentsch TJ,Gecz J,Field M,Kalscheuer VM, Mol Psychiatry. February 1, 2018; 23(2):1476-5578.
Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features., Niturad CE,Lev D,Kalscheuer VM,Charzewska A,Schubert J,Lerman-Sagie T,Kroes HY,Oegema R,Traverso M,Specchio N,Lassota M,Chelly J,Bennett-Back O,Carmi N,Koffler-Brill T,Iacomino M,Trivisano M,Capovilla G,Striano P,Nawara M,Rzonca S,Fischer U,Bienek M,Jensen C,Hu H,Thiele H,Altmüller J,Krause R,May P,Becker F,Balling R,Biskup S,Haas SA,Nürnberg P,van Gassen KLI,Lerche H,Zara F,Maljevic S,Leshinsky-Silver E, Brain. November 1, 2017; 140(11):1460-2156.
A review of interventions against fetal alcohol spectrum disorder targeting oxidative stress., Zhang Y,Zhang Y,Wang H,Li Y,Peng Y, Int J Dev Neurosci. December 1, 2018; 71:0736-5748.
Functional analysis of a triplet deletion in the gene encoding the sodium glucose transporter 3, a potential risk factor for ADHD., Schäfer N,Friedrich M,Jørgensen ME,Kollert S,Koepsell H,Wischmeyer E,Lesch KP,Geiger D,Döring F, PLoS One. October 4, 2018; 13(10):1932-6203.
Acetaldehyde inhibits retinoic acid biosynthesis to mediate alcohol teratogenicity., Shabtai Y,Bendelac L,Jubran H,Hirschberg J,Fainsod A, Sci Rep. January 10, 2018; 8(1):2045-2322.
Retinoic acid signaling reduction recapitulates the effects of alcohol on embryo size., Shukrun N,Shabtai Y,Pillemer G,Fainsod A, Genesis. July 1, 2019; 57(7-8):1526-968X.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism., Zawerton A,Yao B,Yeager JP,Pippucci T,Haseeb A,Smith JD,Wischmann L,Kühl SJ,Dean JCS,Pilz DT,Holder SE,McNeill A,Graziano C,Lefebvre V, Am J Hum Genet. February 7, 2019; 104(2):1537-6605.
Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA., Desiderio S,Vermeiren S,Van Campenhout C,Kricha S,Malki E,Richts S,Fletcher EV,Vanwelden T,Schmidt BZ,Henningfeld KA,Pieler T,Woods CG,Nagy V,Verfaillie C,Bellefroid EJ, Cell Rep. March 26, 2019; 26(13):2211-1247.
Fetal Alcohol Spectrum Disorder: Embryogenesis Under Reduced Retinoic Acid Signaling Conditions., Fainsod A,Bendelac-Kapon L,Shabtai Y, Subcell Biochem. January 1, 2020; 95:0306-0225.
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J,Koko M,Hedrich UBS,Hermann A,Cremer K,Haberlandt E,Grimmel M,Alhaddad B,Beck-Woedl S,Harrer M,Karall D,Kingelhoefer L,Tzschach A,Matthies LC,Strom TM,Ringelstein EB,Sturm M,Engels H,Wolff M,Lerche H,Haack TB, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome., Ufartes R,Berger H,Till K,Salinas G,Sturm M,Altmüller J,Nürnberg P,Thiele H,Funke R,Apeshiotis N,Langen H,Wollnik B,Borchers A,Pauli S, Hum Genet. November 1, 2020; 139(11):1432-1203.
The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos., Willsey HR,Xu Y,Xu Y,Everitt A,Dea J,Exner CRT,Willsey AJ,State MW,Harland RM, Development. June 22, 2020; 147(21):1477-9129.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect., McNeill A,Iovino E,Mansard L,Vache C,Baux D,Bedoukian E,Cox H,Dean J,Goudie D,Kumar A,Newbury-Ecob R,Fallerini C,Renieri A,Lopergolo D,Mari F,Blanchet C,Willems M,Roux AF,Pippucci T,Delpire E, Brain. August 1, 2020; 143(8):1460-2156.
Preventing Ethanol-Induced Brain and Eye Morphology Defects Using Optogenetics., Pai VP,Adams DS, Bioelectricity. December 1, 2019; 1(4):2576-3113.
The RNA helicase DDX3 induces neural crest by promoting AKT activity., Perfetto M,Xu X,Lu C,Shi Y,Shi Y,Yousaf N,Li J,Yien YY,Wei S, Development. January 19, 2021; 148(2):1477-9129.
Xenopus leads the way: Frogs as a pioneering model to understand the human brain., Exner CRT,Willsey HR, Genesis. February 1, 2021; 59(1-2):1526-968X.
Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. February 1, 2021; 59(1-2):1526-968X.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.
Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis., Pizzo L,Lasser M,Yusuff T,Jensen M,Ingraham P,Huber E,Singh MD,Monahan C,Iyer J,Desai I,Karthikeyan S,Gould DJ,Yennawar S,Weiner AT,Pounraja VK,Krishnan A,Rolls MM,Lowery LA,Girirajan S, PLoS Genet. April 1, 2021; 17(4):1553-7404.
Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity., Pavinato L,Nematian-Ardestani E,Zonta A,De Rubeis S,Buxbaum J,Mancini C,Bruselles A,Tartaglia M,Pessia M,Tucker SJ,D'Adamo MC,Brusco A, Int J Mol Sci. June 4, 2021; 22(11):1422-0067.
The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.
Physical basis for distinct basal and mechanically gated activity of the human K+ channel TRAAK., Rietmeijer RA,Sorum B,Li B,Brohawn SG, Neuron. September 15, 2021; 109(18):0896-6273.
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.
From cohorts to molecules: Adverse impacts of endocrine disrupting mixtures., Caporale N,Leemans M,Birgersson L,Germain PL,Cheroni C,Borbély G,Engdahl E,Lindh C,Bressan RB,Cavallo F,Chorev NE,D'Agostino GA,Pollard SM,Rigoli MT,Tenderini E,Tobon AL,Trattaro S,Troglio F,Zanella M,Bergman Å,Damdimopoulou P,Jönsson M,Kiess W,Kitraki E,Kiviranta H,Nånberg E,Öberg M,Rantakokko P,Rudén C,Söder O,Bornehag CG,Demeneix B,Fini JB,Gennings C,Rüegg J,Sturve J,Testa G, Science. February 18, 2022; 375(6582):1095-9203.
16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis., Lasser M,Bolduc J,Murphy L,O'Brien C,Lee S,Girirajan S,Lowery LA, Front Genet. January 1, 2022; 13:1664-8021.
Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly., Gur M,Bendelac-Kapon L,Shabtai Y,Pillemer G,Fainsod A, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.
Thyroid Hormone Receptor α Controls the Hind Limb Metamorphosis by Regulating Cell Proliferation and Wnt Signaling Pathways in Xenopus tropicalis., Tanizaki Y,Shibata Y,Zhang H,Shi YB,Shi YB, Int J Mol Sci. January 22, 2022; 23(3):1422-0067.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition., Palmer EE,Pusch M,Picollo A,Forwood C,Nguyen MH,Suckow V,Gibbons J,Hoff A,Sigfrid L,Megarbane A,Nizon M,Cogné B,Beneteau C,Alkuraya FS,Chedrawi A,Hashem MO,Stamberger H,Weckhuysen S,Vanlander A,Ceulemans B,Rajagopalan S,Nunn K,Arpin S,Raynaud M,Motter CS,Ward-Melver C,Janssens K,Meuwissen M,Beysen D,Dikow N,Grimmel M,Haack TB,Clement E,McTague A,Hunt D,Townshend S,Ward M,Richards LJ,Simons C,Costain G,Dupuis L,Mendoza-Londono R,Dudding-Byth T,Boyle J,Saunders C,Fleming E,El Chehadeh S,Spitz MA,Piton A,Gerard B,Abi Warde MT,Rea G,McKenna C,Douzgou S,Banka S,Akman C,Bain JM,Sands TT,Wilson GN,Silvertooth EJ,Miller L,Lederer D,Sachdev R,Macintosh R,Monestier O,Karadurmus D,Collins F,Carter M,Rohena L,Willemsen MH,Ockeloen CW,Pfundt R,Kroft SD,Field M,Laranjeira FER,Fortuna AM,Soares AR,Michaud V,Naudion S,Golla S,Weaver DD,Bird LM,Friedman J,Clowes V,Joss S,Pölsler L,Campeau PM,Blazo M,Bijlsma EK,Rosenfeld JA,Beetz C,Powis Z,McWalter K,Brandt T,Torti E,Mathot M,Mohammad SS,Armstrong R,Kalscheuer VM, Mol Psychiatry. February 1, 2023; 28(2):1476-5578.
The H2A.Z and NuRD associated protein HMG20A controls early head and heart developmental transcription programs., Herchenröther A,Gossen S,Friedrich T,Reim A,Daus N,Diegmüller F,Leers J,Sani HM,Gerstner S,Schwarz L,Stellmacher I,Szymkowiak LV,Nist A,Stiewe T,Borggrefe T,Mann M,Mackay JP,Bartkuhn M,Borchers A,Lan J,Hake SB, Nat Commun. January 28, 2023; 14(1):2041-1723.
Dopamine-induced arrestin recruitment and desensitization of the dopamine D4 receptor is regulated by G protein-coupled receptor kinase-2., Burström V,Ågren R,Betari N,Valle-León M,Garro-Martínez E,Ciruela F,Sahlholm K, Front Pharmacol. January 1, 2023; 14:1663-9812.
Genetically programmed retinoic acid deficiency during gastrulation phenocopies most known developmental defects due to acute prenatal alcohol exposure in FASD., Petrelli B,Oztürk A,Pind M,Ayele H,Fainsod A,Hicks GG, Front Cell Dev Biol. January 1, 2023; 11:2296-634X.
Advancements in the use of xenopus oocytes for modelling neurological disease for novel drug discovery., O'Connor EC,Kambara K,Bertrand D, Expert Opin Drug Discov. February 1, 2024; 19(2):1746-045X.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., Kaiyrzhanov R,Rad A,Lin SJ,Bertoli-Avella A,Kallemeijn WW,Godwin A,Zaki MS,Huang K,Lau T,Petree C,Efthymiou S,Karimiani EG,Hempel M,Normand EA,Rudnik-Schöneborn S,Schatz UA,Baggelaar MP,Ilyas M,Sultan T,Alvi JR,Ganieva M,Fowler B,Aanicai R,Tayfun GA,Al Saman A,Alswaid A,Amiri N,Asilova N,Shotelersuk V,Yeetong P,Azam M,Babaei M,Monajemi GB,Mohammadi P,Samie S,Banu SH,Pinto Basto J,Kortüm F,Bauer M,Bauer P,Beetz C,Garshasbi M,Issa AH,Eyaid W,Ahmed H,Hashemi N,Hassanpour K,Herman I,Ibrohimov S,Abdul-Majeed BA,Imdad M,Isrofilov M,Kaiyal Q,Khan S,Kirmse B,Koster J,Lourenço CM,Mitani T,Moldovan O,Murphy D,Najafi M,Pehlivan D,Rocha ME,Salpietro V,Schmidts M,Shalata A,Mahroum M,Talbeya JK,Taylor RW,Vazquez D,Vetro A,Waterham HR,Zaman M,Schrader TA,Chung WK,Guerrini R,Lupski JR,Gleeson J,Suri M,Jamshidi Y,Bhatia KP,Vona B,Schrader M,Severino M,Guille M,Tate EW,Varshney GK,Houlden H,Maroofian R, Brain. April 4, 2024; 147(4):1460-2156.
Dyrk1a is required for craniofacial development in Xenopus laevis., Johnson HK,Wahl SE,Sesay F,Litovchick L,Dickinson AJ, Dev Biol. July 1, 2024; 511:1095-564X.

Ethanol exposure affects gene expression in the embryonic organizer and reduces retinoic acid levels., Yelin R,Schyr RB,Kot H,Zins S,Frumkin A,Pillemer G,Fainsod A, Dev Biol. March 1, 2005; 279(1):1095-564X.

A critical role of Pax6 in alcohol-induced fetal microcephaly., Peng Y,Yang PH,Ng SS,Wong OG,Liu J,He ML,Kung HF,Lin MC, Neurobiol Dis. July 1, 2004; 16(2):1095-953X.

Catalase and peroxiredoxin 5 protect Xenopus embryos against alcohol-induced ocular anomalies., Peng Y,Yang PH,Guo Y,Ng SS,Liu J,Fung PC,Tay D,Ge J,He ML,Kung HF,Lin MC, Invest Ophthalmol Vis Sci. January 1, 2004; 45(1):1552-5783.

Craniofacial malformation in Xenopus laevis tadpoles caused by the exposure of early embryos to ethanol., Nakatsuji N, Teratology. October 1, 1983; 28(2):0040-3709.

Early molecular effects of ethanol during vertebrate embryogenesis., Yelin R,Kot H,Yelin D,Fainsod A, Differentiation. June 1, 2007; 75(5):1432-0436.

Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy., Wuttke TV,Penzien J,Fauler M,Seebohm G,Lehmann-Horn F,Lerche H,Jurkat-Rott K, J Physiol. January 15, 2008; 586(2):0022-3751.

Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A., Ogawa Y,Nonaka Y,Goto T,Ohnishi E,Hiramatsu T,Kii I,Yoshida M,Ikura T,Onogi H,Shibuya H,Hosoya T,Ito N,Hagiwara M, Nat Commun. October 5, 2010; 1:2041-1723.

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy., Lemke JR,Hendrickx R,Geider K,Laube B,Schwake M,Harvey RJ,James VM,Pepler A,Steiner I,Hörtnagel K,Neidhardt J,Ruf S,Wolff M,Bartholdi D,Caraballo R,Platzer K,Suls A,De Jonghe P,Biskup S,Weckhuysen S, Ann Neurol. January 1, 2014; 75(1):1531-8249.

The different effects on cranial and trunk neural crest cell behaviour following exposure to a low concentration of alcohol in vitro., Czarnobaj J,Bagnall KM,Bamforth JS,Milos NC, Arch Oral Biol. May 1, 2014; 59(5):1879-1506.

5-Mehtyltetrahydrofolate rescues alcohol-induced neural crest cell migration abnormalities., Shi Y,Shi Y,Li J,Chen C,Gong M,Chen Y,Chen Y,Liu Y,Chen J,Li T,Song W, Mol Brain. September 16, 2014; 7:1756-6606.

The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling., Iwasaki Y,Thomsen GH, Development. October 1, 2014; 141(19):1477-9129.

Transcriptional regulator PRDM12 is essential for human pain perception., Chen YC,Chen YC,Auer-Grumbach M,Matsukawa S,Zitzelsberger M,Themistocleous AC,Strom TM,Samara C,Moore AW,Cho LT,Young GT,Weiss C,Schabhüttl M,Stucka R,Schmid AB,Parman Y,Graul-Neumann L,Heinritz W,Passarge E,Watson RM,Hertz JM,Moog U,Baumgartner M,Valente EM,Pereira D,Restrepo CM,Katona I,Dusl M,Stendel C,Wieland T,Stafford F,Reimann F,von Au K,Finke C,Willems PJ,Nahorski MS,Shaikh SS,Carvalho OP,Nicholas AK,Karbani G,McAleer MA,Cilio MR,McHugh JC,Murphy SM,Irvine AD,Jensen UB,Windhager R,Weis J,Bergmann C,Rautenstrauss B,Baets J,De Jonghe P,Reilly MM,Kropatsch R,Kurth I,Chrast R,Michiue T,Bennett DL,Woods CG,Senderek J, Nat Genet. July 1, 2015; 47(7):1546-1718.

CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus., Bhattacharya D,Marfo CA,Li D,Lane M,Khokha MK, Dev Biol. December 15, 2015; 408(2):1095-564X.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome., Hempel A,Pagnamenta AT,Blyth M,Mansour S,McConnell V,Kou I,Ikegawa S,Tsurusaki Y,Matsumoto N,Lo-Castro A,Plessis G,Albrecht B,Battaglia A,Taylor JC,Howard MF,Keays D,Sohal AS,Kühl SJ,Kini U,McNeill A, J Med Genet. March 1, 2016; 53(3):1468-6244.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females., Palmer EE,Stuhlmann T,Weinert S,Haan E,Van Esch H,Holvoet M,Boyle J,Leffler M,Raynaud M,Moraine C,van Bokhoven H,Kleefstra T,Kahrizi K,Najmabadi H,Ropers HH,Delgado MR,Sirsi D,Golla S,Sommer A,Pietryga MP,Chung WK,Wynn J,Rohena L,Bernardo E,Hamlin D,Faux BM,Grange DK,Manwaring L,Tolmie J,Joss S,Cobben JM,Duijkers FAM,Goehringer JM,Challman TD,Hennig F,Fischer U,Grimme A,Suckow V,Musante L,Nicholl J,Shaw M,Lodh SP,Niu Z,Rosenfeld JA,Stankiewicz P,Jentsch TJ,Gecz J,Field M,Kalscheuer VM, Mol Psychiatry. February 1, 2018; 23(2):1476-5578.

Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features., Niturad CE,Lev D,Kalscheuer VM,Charzewska A,Schubert J,Lerman-Sagie T,Kroes HY,Oegema R,Traverso M,Specchio N,Lassota M,Chelly J,Bennett-Back O,Carmi N,Koffler-Brill T,Iacomino M,Trivisano M,Capovilla G,Striano P,Nawara M,Rzonca S,Fischer U,Bienek M,Jensen C,Hu H,Thiele H,Altmüller J,Krause R,May P,Becker F,Balling R,Biskup S,Haas SA,Nürnberg P,van Gassen KLI,Lerche H,Zara F,Maljevic S,Leshinsky-Silver E, Brain. November 1, 2017; 140(11):1460-2156.

A review of interventions against fetal alcohol spectrum disorder targeting oxidative stress., Zhang Y,Zhang Y,Wang H,Li Y,Peng Y, Int J Dev Neurosci. December 1, 2018; 71:0736-5748.

Functional analysis of a triplet deletion in the gene encoding the sodium glucose transporter 3, a potential risk factor for ADHD., Schäfer N,Friedrich M,Jørgensen ME,Kollert S,Koepsell H,Wischmeyer E,Lesch KP,Geiger D,Döring F, PLoS One. October 4, 2018; 13(10):1932-6203.

Acetaldehyde inhibits retinoic acid biosynthesis to mediate alcohol teratogenicity., Shabtai Y,Bendelac L,Jubran H,Hirschberg J,Fainsod A, Sci Rep. January 10, 2018; 8(1):2045-2322.

Retinoic acid signaling reduction recapitulates the effects of alcohol on embryo size., Shukrun N,Shabtai Y,Pillemer G,Fainsod A, Genesis. July 1, 2019; 57(7-8):1526-968X.

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism., Zawerton A,Yao B,Yeager JP,Pippucci T,Haseeb A,Smith JD,Wischmann L,Kühl SJ,Dean JCS,Pilz DT,Holder SE,McNeill A,Graziano C,Lefebvre V, Am J Hum Genet. February 7, 2019; 104(2):1537-6605.

Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA., Desiderio S,Vermeiren S,Van Campenhout C,Kricha S,Malki E,Richts S,Fletcher EV,Vanwelden T,Schmidt BZ,Henningfeld KA,Pieler T,Woods CG,Nagy V,Verfaillie C,Bellefroid EJ, Cell Rep. March 26, 2019; 26(13):2211-1247.

Fetal Alcohol Spectrum Disorder: Embryogenesis Under Reduced Retinoic Acid Signaling Conditions., Fainsod A,Bendelac-Kapon L,Shabtai Y, Subcell Biochem. January 1, 2020; 95:0306-0225.

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J,Koko M,Hedrich UBS,Hermann A,Cremer K,Haberlandt E,Grimmel M,Alhaddad B,Beck-Woedl S,Harrer M,Karall D,Kingelhoefer L,Tzschach A,Matthies LC,Strom TM,Ringelstein EB,Sturm M,Engels H,Wolff M,Lerche H,Haack TB, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome., Ufartes R,Berger H,Till K,Salinas G,Sturm M,Altmüller J,Nürnberg P,Thiele H,Funke R,Apeshiotis N,Langen H,Wollnik B,Borchers A,Pauli S, Hum Genet. November 1, 2020; 139(11):1432-1203.

The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos., Willsey HR,Xu Y,Xu Y,Everitt A,Dea J,Exner CRT,Willsey AJ,State MW,Harland RM, Development. June 22, 2020; 147(21):1477-9129.

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect., McNeill A,Iovino E,Mansard L,Vache C,Baux D,Bedoukian E,Cox H,Dean J,Goudie D,Kumar A,Newbury-Ecob R,Fallerini C,Renieri A,Lopergolo D,Mari F,Blanchet C,Willems M,Roux AF,Pippucci T,Delpire E, Brain. August 1, 2020; 143(8):1460-2156.

Preventing Ethanol-Induced Brain and Eye Morphology Defects Using Optogenetics., Pai VP,Adams DS, Bioelectricity. December 1, 2019; 1(4):2576-3113.

The RNA helicase DDX3 induces neural crest by promoting AKT activity., Perfetto M,Xu X,Lu C,Shi Y,Shi Y,Yousaf N,Li J,Yien YY,Wei S, Development. January 19, 2021; 148(2):1477-9129.

Xenopus leads the way: Frogs as a pioneering model to understand the human brain., Exner CRT,Willsey HR, Genesis. February 1, 2021; 59(1-2):1526-968X.

Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. February 1, 2021; 59(1-2):1526-968X.

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.

Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis., Pizzo L,Lasser M,Yusuff T,Jensen M,Ingraham P,Huber E,Singh MD,Monahan C,Iyer J,Desai I,Karthikeyan S,Gould DJ,Yennawar S,Weiner AT,Pounraja VK,Krishnan A,Rolls MM,Lowery LA,Girirajan S, PLoS Genet. April 1, 2021; 17(4):1553-7404.

Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity., Pavinato L,Nematian-Ardestani E,Zonta A,De Rubeis S,Buxbaum J,Mancini C,Bruselles A,Tartaglia M,Pessia M,Tucker SJ,D'Adamo MC,Brusco A, Int J Mol Sci. June 4, 2021; 22(11):1422-0067.

The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.

Physical basis for distinct basal and mechanically gated activity of the human K+ channel TRAAK., Rietmeijer RA,Sorum B,Li B,Brohawn SG, Neuron. September 15, 2021; 109(18):0896-6273.

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.

From cohorts to molecules: Adverse impacts of endocrine disrupting mixtures., Caporale N,Leemans M,Birgersson L,Germain PL,Cheroni C,Borbély G,Engdahl E,Lindh C,Bressan RB,Cavallo F,Chorev NE,D'Agostino GA,Pollard SM,Rigoli MT,Tenderini E,Tobon AL,Trattaro S,Troglio F,Zanella M,Bergman Å,Damdimopoulou P,Jönsson M,Kiess W,Kitraki E,Kiviranta H,Nånberg E,Öberg M,Rantakokko P,Rudén C,Söder O,Bornehag CG,Demeneix B,Fini JB,Gennings C,Rüegg J,Sturve J,Testa G, Science. February 18, 2022; 375(6582):1095-9203.

16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis., Lasser M,Bolduc J,Murphy L,O'Brien C,Lee S,Girirajan S,Lowery LA, Front Genet. January 1, 2022; 13:1664-8021.

Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly., Gur M,Bendelac-Kapon L,Shabtai Y,Pillemer G,Fainsod A, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.

Thyroid Hormone Receptor α Controls the Hind Limb Metamorphosis by Regulating Cell Proliferation and Wnt Signaling Pathways in Xenopus tropicalis., Tanizaki Y,Shibata Y,Zhang H,Shi YB,Shi YB, Int J Mol Sci. January 22, 2022; 23(3):1422-0067.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition., Palmer EE,Pusch M,Picollo A,Forwood C,Nguyen MH,Suckow V,Gibbons J,Hoff A,Sigfrid L,Megarbane A,Nizon M,Cogné B,Beneteau C,Alkuraya FS,Chedrawi A,Hashem MO,Stamberger H,Weckhuysen S,Vanlander A,Ceulemans B,Rajagopalan S,Nunn K,Arpin S,Raynaud M,Motter CS,Ward-Melver C,Janssens K,Meuwissen M,Beysen D,Dikow N,Grimmel M,Haack TB,Clement E,McTague A,Hunt D,Townshend S,Ward M,Richards LJ,Simons C,Costain G,Dupuis L,Mendoza-Londono R,Dudding-Byth T,Boyle J,Saunders C,Fleming E,El Chehadeh S,Spitz MA,Piton A,Gerard B,Abi Warde MT,Rea G,McKenna C,Douzgou S,Banka S,Akman C,Bain JM,Sands TT,Wilson GN,Silvertooth EJ,Miller L,Lederer D,Sachdev R,Macintosh R,Monestier O,Karadurmus D,Collins F,Carter M,Rohena L,Willemsen MH,Ockeloen CW,Pfundt R,Kroft SD,Field M,Laranjeira FER,Fortuna AM,Soares AR,Michaud V,Naudion S,Golla S,Weaver DD,Bird LM,Friedman J,Clowes V,Joss S,Pölsler L,Campeau PM,Blazo M,Bijlsma EK,Rosenfeld JA,Beetz C,Powis Z,McWalter K,Brandt T,Torti E,Mathot M,Mohammad SS,Armstrong R,Kalscheuer VM, Mol Psychiatry. February 1, 2023; 28(2):1476-5578.

The H2A.Z and NuRD associated protein HMG20A controls early head and heart developmental transcription programs., Herchenröther A,Gossen S,Friedrich T,Reim A,Daus N,Diegmüller F,Leers J,Sani HM,Gerstner S,Schwarz L,Stellmacher I,Szymkowiak LV,Nist A,Stiewe T,Borggrefe T,Mann M,Mackay JP,Bartkuhn M,Borchers A,Lan J,Hake SB, Nat Commun. January 28, 2023; 14(1):2041-1723.

Dopamine-induced arrestin recruitment and desensitization of the dopamine D4 receptor is regulated by G protein-coupled receptor kinase-2., Burström V,Ågren R,Betari N,Valle-León M,Garro-Martínez E,Ciruela F,Sahlholm K, Front Pharmacol. January 1, 2023; 14:1663-9812.

Genetically programmed retinoic acid deficiency during gastrulation phenocopies most known developmental defects due to acute prenatal alcohol exposure in FASD., Petrelli B,Oztürk A,Pind M,Ayele H,Fainsod A,Hicks GG, Front Cell Dev Biol. January 1, 2023; 11:2296-634X.

Advancements in the use of xenopus oocytes for modelling neurological disease for novel drug discovery., O'Connor EC,Kambara K,Bertrand D, Expert Opin Drug Discov. February 1, 2024; 19(2):1746-045X.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., Kaiyrzhanov R,Rad A,Lin SJ,Bertoli-Avella A,Kallemeijn WW,Godwin A,Zaki MS,Huang K,Lau T,Petree C,Efthymiou S,Karimiani EG,Hempel M,Normand EA,Rudnik-Schöneborn S,Schatz UA,Baggelaar MP,Ilyas M,Sultan T,Alvi JR,Ganieva M,Fowler B,Aanicai R,Tayfun GA,Al Saman A,Alswaid A,Amiri N,Asilova N,Shotelersuk V,Yeetong P,Azam M,Babaei M,Monajemi GB,Mohammadi P,Samie S,Banu SH,Pinto Basto J,Kortüm F,Bauer M,Bauer P,Beetz C,Garshasbi M,Issa AH,Eyaid W,Ahmed H,Hashemi N,Hassanpour K,Herman I,Ibrohimov S,Abdul-Majeed BA,Imdad M,Isrofilov M,Kaiyal Q,Khan S,Kirmse B,Koster J,Lourenço CM,Mitani T,Moldovan O,Murphy D,Najafi M,Pehlivan D,Rocha ME,Salpietro V,Schmidts M,Shalata A,Mahroum M,Talbeya JK,Taylor RW,Vazquez D,Vetro A,Waterham HR,Zaman M,Schrader TA,Chung WK,Guerrini R,Lupski JR,Gleeson J,Suri M,Jamshidi Y,Bhatia KP,Vona B,Schrader M,Severino M,Guille M,Tate EW,Varshney GK,Houlden H,Maroofian R, Brain. April 4, 2024; 147(4):1460-2156.

Dyrk1a is required for craniofacial development in Xenopus laevis., Johnson HK,Wahl SE,Sesay F,Litovchick L,Dickinson AJ, Dev Biol. July 1, 2024; 511:1095-564X.