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	1.	Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. [electronic resource] by Chen, Li Mullegama, Sureni V Alaimo, Joseph T Elsea, Sarah H Producer: 20151103 In: Developmental period medicine vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	2.	Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder. [electronic resource] by Mullegama, Sureni V Alaimo, Joseph T Chen, Li Elsea, Sarah H Producer: 20160104 In: International journal of molecular sciences vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Exome and genome sequencing in reproductive medicine. [electronic resource] by Normand, Elizabeth A Alaimo, Joseph T Van den Veyver, Ignatia B Producer: 20181029 In: Fertility and sterility vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor. [electronic resource] by Le, Trang N Williams, Stephen R Alaimo, Joseph T Elsea, Sarah H Producer: 20200421 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis. [electronic resource] by Alaimo, Joseph T Mullegama, Sureni V Thomas, Mary Ann Elsea, Sarah H Producer: 20151007 In: Molecular cytogenetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1. [electronic resource] by Alaimo, Joseph T Hahn, Natalie C Hahn, Natalie H Mullegama, Sureni V Elsea, Sarah H Producer: 20151215 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	SLO-2 isoforms with unique Ca(2+) - and voltage-dependence characteristics confer sensitivity to hypoxia in C. elegans. [electronic resource] by Zhang, Zhe Tang, Qiong-Yao Alaimo, Joseph T Davies, Andrew G Bettinger, Jill C Logothetis, Diomedes E Producer: 20141010 In: Channels (Austin, Tex.) vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. [electronic resource] by Alaimo, Joseph T Barton, Laura V Mullegama, Sureni V Wills, Rachel D Foster, Rebecca H Elsea, Sarah H Producer: 20160831 In: Research in developmental disabilities vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	None [electronic resource] by Mullegama, Sureni V Alaimo, Joseph T Fountain, Michael D Burns, Brooke Balog, Amanda Hebert Chen, Li Elsea, Sarah H Publication details: Journal of pediatric genetics Sep 2017 In: Journal of pediatric genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. [electronic resource] by Alaimo, Joseph T Besse, Arnaud Alston, Charlotte L Pang, Ki Appadurai, Vivek Samanta, Monisha Smpokou, Patroula McFarland, Robert Taylor, Robert W Bonnen, Penelope E Producer: 20190423 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Ethanol metabolism and osmolarity modify behavioral responses to ethanol in C. elegans. [electronic resource] by Alaimo, Joseph T Davis, Scott J Song, Sam S Burnette, Christopher R Grotewiel, Mike Shelton, Keith L Pierce-Shimomura, Jonathan T Davies, Andrew G Bettinger, Jill C Producer: 20130820 In: Alcoholism, clinical and experimental research vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. [electronic resource] by Perkins, Tiffany Rosenberg, Jacob M Le Coz, Carole Alaimo, Joseph T Trofa, Melissa Mullegama, Sureni V Antaya, Richard J Jyonouchi, Soma Elsea, Sarah H Utz, Paul J Meffre, Eric Romberg, Neil Producer: 20180510 In: The journal of allergy and clinical immunology. In practice vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. [electronic resource] by Chen, Li Jensik, Philip J Alaimo, Joseph T Walkiewicz, Magdalena Berger, Seth Roeder, Elizabeth Faqeih, Eissa A Bernstein, Jonathan A Smith, Ann C M Mullegama, Sureni V Saffen, David W Elsea, Sarah H Producer: 20180618 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. [electronic resource] by Alston, Charlotte L Veling, Mike T Heidler, Juliana Taylor, Lucie S Alaimo, Joseph T Sung, Andrew Y He, Langping Hopton, Sila Broomfield, Alexander Pavaine, Julija Diaz, Jullianne Leon, Eyby Wolf, Philipp McFarland, Robert Prokisch, Holger Wortmann, Saskia B Bonnen, Penelope E Wittig, Ilka Pagliarini, David J Taylor, Robert W Producer: 20200417 In: American journal of human genetics vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. [electronic resource] by Zollino, Marcella Zweier, Christiane Van Balkom, Ingrid D Sweetser, David A Alaimo, Joseph Bijlsma, Emilia K Cody, Jannine Elsea, Sarah H Giurgea, Irina Macchiaiolo, Marina Smigiel, Robert Thibert, Ronald L Benoist, Ingrid Clayton-Smith, Jill De Winter, Channa F Deckers, Stijn Gandhi, Anusha Huisman, Sylvia Kempink, Dagmar Kruisinga, Frea Lamacchia, Vittoria Marangi, Giuseppe Menke, Leonie Mulder, Paul Nordgren, Ann Renieri, Alessandra Routledge, Sue Saunders, Carol J Stembalska, Agnieszka Van Balkom, Hans Whalen, Sandra Hennekam, Raoul C Producer: 20200518 In: Clinical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. [electronic resource] by Chilton, Ilana Okur, Volkan Vitiello, Giuseppina Selicorni, Angelo Mariani, Milena Goldenberg, Alice Husson, Thomas Campion, Dominique Lichtenbelt, Klaske D van Gassen, Koen Steinraths, Michelle Rice, Jennifer Roeder, Elizabeth R Littlejohn, Rebecca O Srour, Myriam Sebire, Guillaume Accogli, Andrea Héron, Delphine Heide, Solveig Nava, Caroline Depienne, Christel Larson, Austin Niyazov, Dmitriy Azage, Meron Hoganson, George Burton, Jennifer Rush, Eric T Jenkins, Janda L Saunders, Carol J Thiffault, Isabelle Alaimo, Joseph T Fleischer, Julie Groepper, Daniel Gripp, Karen W Chung, Wendy K Producer: 20210112 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. [electronic resource] by Vetrini, Francesco McKee, Shane Rosenfeld, Jill A Suri, Mohnish Lewis, Andrea M Nugent, Kimberly Margaret Roeder, Elizabeth Littlejohn, Rebecca O Holder, Sue Zhu, Wenmiao Alaimo, Joseph T Graham, Brett Harris, Jill M Gibson, James B Pastore, Matthew McBride, Kim L Komara, Makanko Al-Gazali, Lihadh Al Shamsi, Aisha Fanning, Elizabeth A Wierenga, Klaas J Scott, Daryl A Ben-Neriah, Ziva Meiner, Vardiella Cassuto, Hanoch Elpeleg, Orly Holder, J Lloyd Burrage, Lindsay C Seaver, Laurie H Van Maldergem, Lionel Mahida, Sonal Soul, Janet S Marlatt, Margaret Matyakhina, Ludmila Vogt, Julie Gold, June-Anne Park, Soo-Mi Varghese, Vinod Lampe, Anne K Kumar, Ajith Lees, Melissa Holder-Espinasse, Muriel McConnell, Vivienne Bernhard, Birgitta Blair, Ed Harrison, Victoria Muzny, Donna M Gibbs, Richard A Elsea, Sarah H Posey, Jennifer E Bi, Weimin Lalani, Seema Xia, Fan Yang, Yaping Eng, Christine M Lupski, James R Liu, Pengfei Producer: 20190613 In: Genome medicine vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. [electronic resource] by Vetrini, Francesco McKee, Shane Rosenfeld, Jill A Suri, Mohnish Lewis, Andrea M Nugent, Kimberly Margaret Roeder, Elizabeth Littlejohn, Rebecca O Holder, Sue Zhu, Wenmiao Alaimo, Joseph T Graham, Brett Harris, Jill M Gibson, James B Pastore, Matthew McBride, Kim L Komara, Makanko Al-Gazali, Lihadh Al Shamsi, Aisha Fanning, Elizabeth A Wierenga, Klaas J Scott, Daryl A Ben-Neriah, Ziva Meiner, Vardiella Cassuto, Hanoch Elpeleg, Orly Lloyd Holder, J Burrage, Lindsay C Seaver, Laurie H Van Maldergem, Lionel Mahida, Sonal Soul, Janet S Marlatt, Margaret Matyakhina, Ludmila Vogt, Julie Gold, June-Anne Park, Soo-Mi Varghese, Vinod Lampe, Anne K Kumar, Ajith Lees, Melissa Holder-Espinasse, Muriel McConnell, Vivienne Bernhard, Birgitta Blair, Ed Harrison, Victoria Muzny, Donna M Gibbs, Richard A Elsea, Sarah H Posey, Jennifer E Bi, Weimin Lalani, Seema Xia, Fan Yang, Yaping Eng, Christine M Lupski, James R Liu, Pengfei Publication details: Genome medicine 03 2019 In: Genome medicine vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Genomewide Association Study of Alcohol Dependence Identifies Risk Loci Altering Ethanol-Response Behaviors in Model Organisms. [electronic resource] by Adkins, Amy E Hack, Laura M Bigdeli, Tim B Williamson, Vernell S McMichael, G Omari Mamdani, Mohammed Edwards, Alexis C Aliev, Fazil Chan, Robin F Bhandari, Poonam Raabe, Richard C Alaimo, Joseph T Blackwell, GinaMari G Moscati, Arden Poland, Ryan S Rood, Benjamin Patterson, Diana G Walsh, Dermot Whitfield, John B Zhu, Gu Montgomery, Grant W Henders, Anjali K Martin, Nicholas G Heath, Andrew C Madden, Pamela A F Frank, Josef Ridinger, Monika Wodarz, Norbert Soyka, Michael Zill, Peter Ising, Marcus Nöthen, Markus M Kiefer, Falk Rietschel, Marcella Gelernter, Joel Sherva, Richard Koesterer, Ryan Almasy, Laura Zhao, Hongyu Kranzler, Henry R Farrer, Lindsay A Maher, Brion S Prescott, Carol A Dick, Danielle M Bacanu, Silviu A Mathies, Laura D Davies, Andrew G Vladimirov, Vladimir I Grotewiel, Mike Bowers, M Scott Bettinger, Jill C Webb, Bradley T Miles, Michael F Kendler, Kenneth S Riley, Brien P Producer: 20180221 In: Alcoholism, clinical and experimental research vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)