21 Publications
2023
A familial SAMD9 variant present in pediatric myelodysplastic syndrome
Rahim, Mahvish Q⋅Rahrig, April⋅Overholt, Kathleen⋅Conboy, Erin⋅Czader, Magdalena and Saraf, Amanda J
Cold Spring Harbor Molecular Case Studies, vol. 9, (no. 2), Apr 2023. | Journal Article
 
Macrocephaly and developmental delay caused by missense variants in RAB5C.
K, Koop⋅Koop, Klaas⋅Koop, Klaas⋅Yuan, Weimin⋅Yuan, Weimin⋅W, Yuan⋅Tessadori, Federico⋅F, Tessadori⋅Tessadori, Federico⋅Rodriguez-Polanco, Wilmer R⋅WR, Rodriguez-Polanco⋅Rodriguez-Polanco, Wilmer R⋅Grubbs, Jeremy⋅J, Grubbs⋅Grubbs, Jeremy⋅B, Zhang⋅Zhang, Bo⋅Zhang, Bo⋅Osmond, Matt⋅M, Osmond⋅Osmond, Matt⋅Graham, Gail⋅G, Graham⋅Graham, Gail⋅Sawyer, Sarah⋅S, Sawyer⋅Sawyer, Sarah⋅Conboy, Erin⋅Conboy, Erin⋅E, Conboy⋅Vetrini, Francesco⋅F, Vetrini⋅Vetrini, Francesco⋅Treat, Kayla⋅K, Treat⋅Treat, Kayla⋅Płoski, Rafal⋅Płoski, Rafal⋅R, Płoski⋅Pienkowski, Victor Murcia⋅Hasselt P⋅Pienkowski, Victor Murcia⋅Kłosowska, Anna⋅Kłosowska, Anna⋅Fieg, Elizabeth⋅Fieg, Elizabeth⋅Krier, Joel⋅Krier, Joel⋅Mallebranche, Coralie⋅Mallebranche, Coralie⋅Alban, Ziegler⋅Alban, Ziegler⋅Aldinger, Kimberly A⋅Aldinger, Kimberly A⋅Ritter, Deborah⋅Ritter, Deborah⋅Macnamara, Ellen⋅Macnamara, Ellen⋅Sullivan, Bonnie⋅Sullivan, Bonnie⋅Herriges, John⋅Herriges, John⋅Alaimo, Joseph T⋅Alaimo, Joseph T⋅Helbig, Catherine⋅Helbig, Catherine⋅Ellis, Colin A⋅Ellis, Colin A⋅Eyk, Clare⋅Eyk, Clare⋅Gecz, Jozef⋅Gecz, Jozef⋅Farrugia, Daniel⋅Farrugia, Daniel⋅Osei-Owusu, Ikeoluwa⋅Osei-Owusu, Ikeoluwa⋅Adès, Lesley⋅Adès, Lesley⋅Boogaard, Marie-Jose⋅Boogaard, Marie-Jose⋅Fuchs, Sabine⋅Fuchs, Sabine⋅Bakker, Jeroen⋅Bakker, Jeroen⋅Duran, Karen⋅Duran, Karen⋅Dawson, Zachary D⋅Dawson, Zachary D⋅Lindsey, Anika⋅Lindsey, Anika⋅Huang, Huiyan⋅Huang, Huiyan⋅Baldridge, Dustin⋅Baldridge, Dustin⋅Silverman, Gary A⋅Silverman, Gary A⋅Grant, Barth D⋅Grant, Barth D⋅Raizen, David⋅Raizen, David⋅Network, Undiagnosed Diseases⋅Network, Undiagnosed Diseases⋅Haaften, Gijs⋅Haaften, Gijs⋅Pak, Stephen C⋅Pak, Stephen C⋅Rehmann, Holger⋅Rehmann, Holger⋅Schedl, Tim⋅Schedl, Tim⋅van Hasselt, Peter and van Hasselt, Peter
Human molecular genetics, August 8, 2023. | Journal Article
2022
Case of IFT140-associated Mainzer Saldino Syndrome.
Patel, Shivam H⋅Bakhsh, Saaquib⋅Conboy, Erin and Hajrasouliha, Amir R
Ophthalmic genetics, pp. 1-3, September 5, 2022. | Journal Article
 
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III
Buchh, Muqsit⋅Buchh, Muqsit⋅Gillespie, Patrick J⋅Gillespie, Patrick J⋅Treat, Kayla⋅Treat, Kayla⋅Abreu, Marco A⋅Abreu, Marco A⋅Schwantes-An, Tae-Hwi L⋅Schwantes-An, Tae-Hwi Linus⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Fang, Fang⋅Fang, Fang⋅Xuei, Xiaoling⋅Xuei, Xiaoling⋅Mantcheva, Lili⋅Mantcheva, Lili⋅Suhrie, Kristen R⋅Suhrie, Kristen R⋅Graham, Brett H⋅Graham, Brett H⋅Conboy, Erin⋅Conboy, Erin⋅Vetrini, Francesco and Vetrini, Francesco
Cold Spring Harbor Molecular Case Studies, vol. 8, (no. 7), Dec 2022. | Journal Article
 
Diagnostic deserts: Community-level barriers to appropriate genetics services.
Doyle, Tom A⋅Conboy, Erin and Halverson, Colin M E
October 25, 2022
2020
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Pino, Gisele⋅Conboy, Erin⋅Tortorelli, Silvia⋅Minnich, Sara⋅Nickander, Kim⋅Lacey, Jean⋅Peck, Dawn⋅Studinski, April⋅White, Amy⋅Gavrilov, Dimitar⋅Rinaldo, Piero⋅Matern, Dietrich⋅Oglesbee, Devin⋅Giugliani, Roberto⋅Burin, Maira and Raymond, Kimiyo
Molecular genetics and metabolism, vol. 129, (no. 2), pp. 106-110, February 2020. | Journal Article
2019
Hyperammonemic encephalopathy in a patient with fibrolamellar hepatocellular carcinoma: case report and literature review
Cho, Janice⋅Chen, Joy C Y⋅Paludo, Jonas⋅Conboy, Erin E⋅Lanpher, Brendan C⋅Alberts, Steven R and Halfdanarson, Thorvardur R
Journal of gastrointestinal oncology, vol. 10, (no. 3), pp. 588, 2019-Jun. | Journal Article
 
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Cousin, Margot A⋅Conboy, Erin⋅Wang, Jian-She⋅Lenz, Dominic⋅Schwab, Tanya L⋅Williams, Monique⋅Abraham, Roshini S⋅Barnett, Sarah⋅El-Youssef, Mounif⋅Graham, Rondell P⋅Gutierrez Sanchez, Luz Helena⋅Hasadsri, Linda⋅Hoffmann, Georg F⋅Hull, Nathan C⋅Kopajtich, Robert⋅Kovacs-Nagy, Reka⋅Li, Jia-qi⋅Marx-Berger, Daniela⋅McLin, Valérie⋅McNiven, Mark A⋅Mounajjed, Taofic⋅Prokisch, Holger⋅Rymen, Daisy⋅Schulze, Ryan J⋅Staufner, Christian⋅Yang, Ye⋅Clark, Karl J⋅Lanpher, Brendan C and Klee, Eric W
The American Journal of Human Genetics, vol. 105, (no. 1), pp. 121, 2019-07-03. | Journal Article
2018
A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant
Conboy, Erin⋅Conboy, Erin⋅Partain, Paige I⋅Partain, Paige I⋅Warad, Deepti⋅Warad, Deepti⋅Kluge, Michelle L⋅Kluge, Michelle L⋅Arndt, Carola⋅Arndt, Carola⋅Chen, Dong⋅Chen, Dong⋅Rodriguez, Vilmarie and Rodriguez, Vilmarie
Journal of pediatric hematology/oncology, vol. 40, (no. 1), pp. 62, 2018-01-00. | Journal Article
 
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features
Conboy, Erin⋅Vairo, Filippo⋅Schultz, Matthew⋅Agre, Katherine⋅Ridsdale, Ross⋅Deyle, David⋅Oglesbee, Devin⋅Gavrilov, Dimitar⋅Klee, Eric W and Lanpher, Brendan
JIMD reports, vol. 40, pp. 69, 2018-00-00. | Journal Article
 
Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype
Conboy, Erin⋅Selcen, Duygu⋅Brodsky, Michael⋅Gavrilova, Ralitza and Ho, Mai Lan
Seminars in Pediatric Neurology, vol. 26, pp. 20, July 2018. | Journal Article
 
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Cheng, Hanyin⋅Cheng, H.⋅Cheng, H.⋅Dharmadhikari, A.V.⋅Dharmadhikari, Avinash V⋅Dharmadhikari, A.V.⋅Varland, S.⋅Varland, Sylvia⋅Varland, S.⋅Ma, N.⋅Ma, N.⋅Ma, Ning⋅Domingo, Deepti⋅Domingo, D.⋅Domingo, D.⋅Kleyner, R.⋅Kleyner, Robert⋅Kleyner, R.⋅Rope, Alan F⋅Rope, A.F.⋅Rope, A.F.⋅Yoon, M.⋅Yoon, M.⋅Yoon, Margaret⋅Stray-Pedersen, A.⋅Stray-Pedersen, Asbjørg⋅Stray-Pedersen, A.⋅Posey, J.E.⋅Posey, Jennifer E⋅Posey, J.E.⋅Crews, S.R.⋅Crews, Sarah R⋅Crews, S.R.⋅Eldomery, M.K.⋅Eldomery, Mohammad K⋅Eldomery, M.K.⋅Akdemir, Z.C.⋅Akdemir, Zeynep Coban⋅Akdemir, Z.C.⋅Lewis, A.M.⋅Lewis, A.M.⋅Lewis, Andrea M⋅Sutton, V.R.⋅Sutton, V.R.⋅Sutton, Vernon R⋅Rosenfeld, J.A.⋅Rosenfeld, Jill A⋅Rosenfeld, J.A.⋅Conboy, E.⋅Conboy, Erin⋅Conboy, E.⋅Agre, Katherine⋅Agre, K.⋅Agre, K.⋅Xia, Fan⋅Xia, F.⋅Xia, F.⋅Walkiewicz, M.⋅Walkiewicz, Magdalena⋅Walkiewicz, M.⋅Longoni, M.⋅Longoni, M.⋅Longoni, Mauro⋅High, F.A.⋅High, F.A.⋅High, Frances A⋅Slegtenhorst, M.A.⋅Slegtenhorst, M.A.⋅van Slegtenhorst, Marjon A⋅Mancini, G.M.S.⋅Mancini, G.M.S.⋅Mancini, Grazia M.S⋅Finnila, C.R.⋅Finnila, C.R.⋅Finnila, Candice R⋅Haeringen, A.⋅Haeringen, A.⋅van Haeringen, Arie⋅Hollander, N.⋅Hollander, N.⋅den Hollander, Nicolette⋅Ruivenkamp, C.⋅Ruivenkamp, C.⋅Ruivenkamp, Claudia⋅Naidu, S.⋅Naidu, Sakkubai⋅Naidu, S.⋅Mahida, S.⋅Mahida, Sonal⋅Mahida, S.⋅Palmer, Elizabeth E⋅Palmer, E.E.⋅Palmer, E.E.⋅Murray, L.⋅Murray, Lucinda⋅Murray, L.⋅Lim, D.⋅Lim, D.⋅Lim, Derek⋅Jayakar, Parul⋅Jayakar, P.⋅Jayakar, P.⋅Parker, Michael J⋅Parker, M.J.⋅Parker, M.J.⋅Giusto, S.⋅Giusto, Stefania⋅Giusto, S.⋅Stracuzzi, E.⋅Stracuzzi, E.⋅Stracuzzi, Emanuela⋅Romano, C.⋅Romano, C.⋅Romano, Corrado⋅Beighley, Jennifer S⋅Beighley, J.S.⋅Beighley, J.S.⋅Bernier, Raphael A⋅Bernier, R.A.⋅Bernier, R.A.⋅Küry, Sébastien⋅Küry, S.⋅Küry, S.⋅Nizon, Mathilde⋅Nizon, M.⋅Nizon, M.⋅Corbett, Mark A⋅Corbett, M.A.⋅Corbett, M.A.⋅Shaw, M.⋅Shaw, M.⋅Shaw, Marie⋅Gardner, Alison⋅Gardner, A.⋅Gardner, A.⋅Barnett, Christopher⋅Barnett, C.⋅Barnett, C.⋅Armstrong, R.⋅Armstrong, R.⋅Armstrong, Ruth⋅Kassahn, Karin S⋅Kassahn, K.S.⋅Kassahn, K.S.⋅Van Dijck, A.⋅Van Dijck, A.⋅Van Dijck, Anke⋅Vandeweyer, G.⋅Vandeweyer, G.⋅Vandeweyer, Geert⋅Kleefstra, T.⋅Kleefstra, T.⋅Kleefstra, Tjitske⋅Schieving, J.⋅Schieving, Jolanda⋅Schieving, J.⋅Jongmans, Marjolijn J⋅Jongmans, M.J.⋅Jongmans, M.J.⋅de Vries, Bert B.A⋅Vries, B.B.A.⋅Vries, B.B.A.⋅Pfundt, R.⋅Pfundt, Rolph⋅Pfundt, R.⋅Kerr, B.⋅Kerr, B.⋅Kerr, Bronwyn⋅Rojas, S.K.⋅Rojas, S.K.⋅Rojas, Samantha K⋅Boycott, K.M.⋅Boycott, K.M.⋅Boycott, Kym M⋅Person, R.⋅Person, Richard⋅Person, R.⋅Willaert, R.⋅Willaert, Rebecca⋅Willaert, R.⋅Eichler, E.E.⋅Eichler, Evan E⋅Eichler, E.E.⋅Kooy, R.F.⋅Kooy, R. Frank⋅Kooy, R.F.⋅Yang, Yaping⋅Yang, Y.⋅Yang, Y.⋅Wu, J.C.⋅Wu, Joseph C⋅Wu, J.C.⋅Lupski, James R⋅Lupski, J.R.⋅Lupski, J.R.⋅Arnesen, T.⋅Arnesen, T.⋅Arnesen, Thomas⋅Cooper, Gregory M⋅Cooper, G.M.⋅Cooper, G.M.⋅Chung, W.K.⋅Chung, W.K.⋅Chung, Wendy K⋅Gecz, J.⋅Gecz, Jozef⋅Gecz, J.⋅Stessman, H.A.F.⋅Stessman, Holly A.F⋅Stessman, H.A.F.⋅Meng, L.⋅Meng, Linyan⋅Meng, L.⋅Lyon, G.J.⋅Lyon, Gholson J and Lyon, G.J.
The American Journal of Human Genetics, vol. 102, (no. 5), pp. 994, 2018-05-03. | Journal Article
2017
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
Conboy, Erin⋅Vairo, Filippo⋅Waggoner, Darrel⋅Ober, Carole⋅Das, Soma⋅Dhamija, Radhika⋅Klee, Eric W and Pichurin, Pavel
Case Reports in Genetics, vol. 2017, pp. 4, 20170412. | Journal Article
 
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients
Vairo, Filippo Pinto⋅Boczek, Nicole J⋅Cousin, Margot A⋅Kaiwar, Charu⋅Blackburn, Patrick R⋅Conboy, Erin⋅Lanpher, Brendan C⋅Gavrilova, Ralitza H⋅Pichurin, Pavel N⋅Lazaridis, Konstantinos N⋅Babovic-Vuksanovic, Dusica and Klee, Eric W
Molecular Genetics and Metabolism Reports, vol. 13, (no. C), pp. 51, December 2017. | Journal Article
2016
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines
Conboy, Erin⋅Conboy, Erin⋅Conboy, Erin⋅Dhamija, Radhika⋅Dhamija, Radhika⋅Dhamija, Radhika⋅Wang, Margaret⋅Wang, Margaret⋅Wang, Margaret⋅Xie, Jing⋅Xie, Jing⋅Xie, Jing⋅Dyck, P James⋅Dyck, P James⋅Dyck, P James⋅Bridges, Alina G⋅Bridges, Alina G⋅Bridges, Alina G⋅Spinner, Robert J⋅Spinner, Robert J⋅Spinner, Robert J⋅Clayton, Amy C⋅Clayton, Amy C⋅Clayton, Amy C⋅Watson, Robert E⋅Watson, Robert E⋅Watson, Robert E⋅Messiaen, Ludwine⋅Messiaen, Ludwine⋅Messiaen, Ludwine⋅Babovic-Vuksanovic, Dusica⋅Babovic-Vuksanovic, Dusica and Babovic-Vuksanovic, Dusica
Journal of Medical Genetics, vol. 53, (no. 2), pp. 126, 20160200. | Journal Article
2015
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective
Volk, Amber⋅Conboy, Erin⋅Wical, Beverly⋅Patterson, Marc and Kirmani, Salman
Molecular Syndromology, vol. 6, (no. 1), pp. 31, 20150200. | Journal Article
2010
Endurance training reduces renal vasoconstriction to orthostatic stress
Conboy, Erin E⋅Conboy, Erin⋅Fogelman, Amy⋅Fogelman, Amy E⋅Sauder, Charity L⋅Sauder, Charity⋅Ray, Chester and Ray, Chester A
American Journal of Physiology - Renal Physiology, vol. 298, (no. 2), pp. 284, 2010-02-01. | Journal Article
2008
Dendrite remodeling and other abnormalities in the retinal ganglion cells of Ins2 Akita diabetic mice
Gastinger, Matthew J⋅Gastinger, Matthew J⋅Kunselman, Allen R⋅Kunselman, Allen R⋅Conboy, Erin E⋅Conboy, Erin E⋅Bronson, Sarah K⋅Bronson, Sarah K⋅Barber, Alistair J and Barber, Alistair J
Investigative ophthalmology & visual science, vol. 49, (no. 6), pp. 2635, 2008-Jun. | Journal Article
 
Dendrite Remodeling and Other Abnormalities in the Retinal Ganglion Cells of Ins2Akita Diabetic Mice
Gastinger, Matthew⋅Kunselman, Allen⋅Conboy, Erin⋅Bronson, Sarah and Barber, Alistair
Investigative Ophthalmology & Visual Science, vol. 49, (no. 6), pp. 2635, 20080601. | Journal Article
 
Otolithic activation on visceral circulation in humans: effect of aging
Sauder, Charity L⋅Sauder, Charity⋅Conboy, Erin⋅Conboy, Erin E⋅Chin-Sang, Stephanie⋅Chin-Sang, Stephanie A⋅Ray, Chester and Ray, Chester A
American Journal of Physiology - Renal Physiology, vol. 295, (no. 4), pp. 1169, 2008-10-01. | Journal Article
2007
Amyloid-β(1−42) Rapidly Forms Protofibrils and Oligomers by Distinct Pathways in Low Concentrations of Sodium Dodecylsulfate
Rangachari, V.⋅Rangachari, Vijayaraghavan⋅Moore, Brenda D⋅Moore, Brenda D⋅Reed, DK⋅Reed, Dana Kim⋅Sonoda, Leilani K⋅Sonoda, LK⋅Bridges, AW⋅Bridges, Alexander W⋅Conboy, E.⋅Conboy, Erin⋅Hartigan, David⋅Hartigan, D.⋅Rosenberry, Terrone L and Rosenberry, Terrone L
Biochemistry, vol. 46, (no. 43), pp. 12462, 20071030. | Journal Article