Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome
Boone, Philip M., Paterson, Scott, Mohajeri, Kiana, Zhu, Wenmiao, Genetti, Casie A., Tai, Derek J. C., Nori, Neeharika, Agrawal, Pankaj B., Bacino, Carlos A., Bi, Weimin, Talkowski, Michael E., Hogan, Benjamin M., Rodan, Lance H.
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
Get full text
Journal Article
Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome
Wojcik, Monica H., Thiele, Katri, Grant, Carly F., Chao, Katherine, Goodrich, Julia, O'Donnell-Luria, Anne, Lacro, Ronald V., Tan, Wen-Hann, Agrawal, Pankaj B.
Published in The Journal of pediatrics (01.10.2019)
Published in The Journal of pediatrics (01.10.2019)
Get full text
Journal Article
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
Flanagan, Frances O, Holtz, Alexander M, Vargas, Sara O, Genetti, Casie A, Schmitz-Abe, Klaus, Casey, Alicia, Kennedy, John C, Raby, Benjamin A, Mullen, Mary P, Fishman, Martha P, Agrawal, Pankaj B
Published in Npj genomic medicine (06.03.2023)
Published in Npj genomic medicine (06.03.2023)
Get full text
Journal Article
Fetoscopic Tracheal Occlusion for Isolated Severe Left Diaphragmatic Hernia: A Systematic Review and Meta-Analysis
Provinciatto, Henrique, Barbalho, Maria Esther, Araujo Júnior, Edward, Cruz-Martínez, Rogelio, Agrawal, Pankaj, Tonni, Gabriele, Ruano, Rodrigo
Published in Journal of clinical medicine (01.06.2024)
Published in Journal of clinical medicine (01.06.2024)
Get full text
Journal Article
Effect of EVA copolymer containing different VA content on the thermal and rheological properties of bio-based high-density polyethylene/ethylene vinyl acetate blends
Farias, Giselly M. G., Agrawal, Pankaj, Hanken, Ruth B. L., de Araújo, Jeane P., de Oliveira, Akidauana D. B., de Mélo, Tomás J. A.
Published in Journal of thermal analysis and calorimetry (01.12.2021)
Published in Journal of thermal analysis and calorimetry (01.12.2021)
Get full text
Journal Article
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Thomas, Quentin, Gautier, Thierry, Marafi, Dana, Besnard, Thomas, Willems, Marjolaine, Moutton, Sébastien, Isidor, Bertand, Cogné, Benjamin, Conrad, Solène, Tenconi, Romano, Iascone, Maria, Sorlin, Arthur, Masurel, Alice, Dabir, Tabib, Jackson, Adam, Banka, Siddharth, Delanne, Julian, Lupski, James R., Saadi, Nebal Waill, Alkuraya, Fowzan S., Zahrani, Fatema Al, Agrawal, Pankaj B., England, Eleina, Madden, Jill A., Posey, Jennifer E., Burglen, Lydie, Rodriguez, Diana, Chevarin, Martin, Nguyen, Sylvie, Mau-Them, Frédéric Tran, Duffourd, Yannis, Garret, Philippine, Bruel, Ange-Line, Callier, Patrick, Marle, Nathalie, Denomme-Pichon, Anne-Sophie, Duplomb, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel, Govin, Jérôme, Faivre, Laurence, Vitobello, Antonio
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
Get full text
Journal Article
SLC6A1 Mutation and Ketogenic Diet in epilepsy with myoclonic-atonic seizures
Palmer, Samantha, Towne, Meghan C, Pearl, Phillip L, Pelletier, Renee C, Genetti, Casie A, Shi, Jiahai, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, Catherine A
Published in Pediatric neurology (01.11.2016)
Published in Pediatric neurology (01.11.2016)
Get full text
Journal Article
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis
D'Gama, Alissa M., England, Eleina, Madden, Jill A., Shi, Jiahai, Chao, Katherine R., Wojcik, Monica H., Torres, Alcy R., Tan, Wen‐Hann, Berry, Gerard T., Prabhu, Sanjay P., Agrawal, Pankaj B.
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
Get full text
Journal Article
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
Jansen, Sandra, van der Werf, Ilse M, Innes, A Micheil, Afenjar, Alexandra, Agrawal, Pankaj B, Anderson, Ilse J, Atwal, Paldeep S, van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H, van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M, van Essen, Anthonie J, van Gassen, Koen L, Guillen Sacoto, Maria J, van Haelst, Mieke M, Iossifov, Ivan, Jackson, Jessica L, Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W, Klein Wassink-Ruiter, Jolien S, Meuwissen, Marije E, Monaghan, Kristin G, de Munnik, Sonja A, Nava, Caroline, Ockeloen, Charlotte W, Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R, Schnur, Rhonda E, Smeets, Eric J, Stegmann, Alexander P A, Stray-Pedersen, Asbjørg, Sweetser, David A, Terhal, Paulien A, Tveten, Kristian, VanNoy, Grace E, de Vries, Petra F, Waxler, Jessica L, Willing, Marcia, Pfundt, Rolph, Veltman, Joris A, Kooy, R Frank, Vissers, Lisenka E L M, de Vries, Bert B A
Published in European journal of human genetics : EJHG (01.05.2019)
Published in European journal of human genetics : EJHG (01.05.2019)
Get full text
Journal Article
Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome
Thaker, Vidhu V, Esteves, Kristyn M, Towne, Meghan C, Brownstein, Catherine A, James, Philip M, Crowley, Laura, Hirschhorn, Joel N, Elsea, Sarah H, Beggs, Alan H, Picker, Jonathan, Agrawal, Pankaj B
Published in The journal of clinical endocrinology and metabolism (01.05.2015)
Published in The journal of clinical endocrinology and metabolism (01.05.2015)
Get full text
Journal Article
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
Touma, Marlin, Joshi, Mugdha, Connolly, Meghan C., Ellen Grant, P., Hansen, Anne R., Khwaja, Omar, Berry, Gerard T., Kinney, Hannah C., Poduri, Annapurna, Agrawal, Pankaj B.
Published in Epilepsia (Copenhagen) (01.05.2013)
Published in Epilepsia (Copenhagen) (01.05.2013)
Get full text
Journal Article
Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families
Wojcik, Monica H., Srivastava, Siddharth, Agrawal, Pankaj B., Balci, Tugce B., Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra‐Clarke, Marina, Edwards, Matthew, Genetti, Casie A., Grange, Dorothy K., Hickey, Scott E., Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M., Lavillaureix, Alinoe, Lyons, Michael J., Marcelis, Carlo, Marco, Elysa J., Martinez‐Agosto, Julian A., Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J., Riberi, Evelise, Rush, Eric T., Russell, Bianca E., Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A., Wilson, Kate, Jansen, Sandra, Vries, Bert B. A., Curry, Cynthia J.
Published in American journal of medical genetics. Part A (01.07.2023)
Published in American journal of medical genetics. Part A (01.07.2023)
Get full text
Journal Article
Atypical presentations associated with non‐polyalanine repeat PHOX2B mutations
Katwa, Umakanth, D'Gama, Alissa M., Qualls, Anita E., Donovan, Lucas M., Heffernan, Jody, Shi, Jiahai, Agrawal, Pankaj B.
Published in American journal of medical genetics. Part A (01.07.2018)
Published in American journal of medical genetics. Part A (01.07.2018)
Get full text
Journal Article
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
Wojcik, Monica H., Okada, Kyoko, Prabhu, Sanjay P., Nowakowski, Dan W., Ramsey, Keri, Balak, Chris, Rangasamy, Sampath, Brownstein, Catherine A., Schmitz‐Abe, Klaus, Cohen, Julie S., Fatemi, Ali, Shi, Jiahai, Grant, Ellen P., Narayanan, Vinodh, Ho, Hsin‐Yi Henry, Agrawal, Pankaj B.
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
Get full text
Journal Article
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy
Mehta, Paulomi, Küspert, Melanie, Bale, Tejus, Brownstein, Catherine A., Towne, Meghan C., Girolami, Umberto, Shi, Jiahai, Beggs, Alan H., Darras, Basil T., Wegner, Michael, Piao, Xianhua, Agrawal, Pankaj B.
Published in Muscle & nerve (01.05.2017)
Published in Muscle & nerve (01.05.2017)
Get full text
Journal Article
Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model
Li, Qifei, Lin, Jasmine, Widrick, Jeffrey J., Luo, Shiyu, Li, Gu, Zhang, Yuanfan, Laporte, Jocelyn, Perrella, Mark A., Liu, Xiaoli, Agrawal, Pankaj B.
Published in JCI insight (08.08.2022)
Published in JCI insight (08.08.2022)
Get full text
Journal Article
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia
Joshi, Mugdha, Eagan, Jacqueline, Desai, Nirav K, Newton, Stephanie A, Towne, Meghan C, Marinakis, Nicholas S, Esteves, Kristyn M, De Ferranti, Sarah, Bennett, Michael J, McIntyre, Adam, Beggs, Alan H, Berry, Gerard T, Agrawal, Pankaj B
Published in European journal of human genetics : EJHG (01.10.2014)
Published in European journal of human genetics : EJHG (01.10.2014)
Get full text
Journal Article
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings
Agrawal, Pankaj B, Joshi, Mugdha, Marinakis, Nicholas S, Schmitz-Abe, Klaus, Ciarlini, Pedro D S C, Sargent, Jane C, Markianos, Kyriacos, De Girolami, Umberto, Chad, David A, Beggs, Alan H
Published in JAMA neurology (01.11.2014)
Published in JAMA neurology (01.11.2014)
Get more information
Journal Article