Found: 143

Select item for more details and to access through your institution.

  • Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

    Published in:
    Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 733, doi. 10.3390/jpm12050733
    By:
    • Kurzlechner, Leonie M.;
    • Jones, Edward G.;
    • Berkman, Amy M.;
    • Tadros, Hanna J.;
    • Rosenfeld, Jill A.;
    • Yang, Yaping;
    • Tunuguntla, Hari;
    • Allen, Hugh D.;
    • Kim, Jeffrey J.;
    • Landstrom, Andrew P.
    Publication type:
    Article

  • Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

    Published in:
    Journal of Genetic Counseling, 2019, v. 28, n. 6, p. 1107, doi. 10.1002/jgc4.1161
    By:
    • Reuter, Chloe M.;
    • Kohler, Jennefer N.;
    • Bonner, Devon;
    • Zastrow, Diane;
    • Fernandez, Liliana;
    • Dries, Annika;
    • Marwaha, Shruti;
    • Davidson, Jean;
    • Brokamp, Elly;
    • Herzog, Matthew;
    • Hong, Joyce;
    • Macnamara, Ellen;
    • Rosenfeld, Jill A.;
    • Schoch, Kelly;
    • Spillmann, Rebecca;
    • Loscalzo, Joseph;
    • Krier, Joel;
    • Stoler, Joan;
    • Sweetser, David;
    • Palmer, Christina G.S.
    Publication type:
    Article

  • Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3616, doi. 10.1093/brain/awad172
    By:
    • Pinard, Amélie;
    • Ye, Wenlei;
    • Fraser, Stuart M;
    • Rosenfeld, Jill A;
    • Pichurin, Pavel;
    • Hickey, Scott E;
    • Guo, Dongchuan;
    • Cecchi, Alana C;
    • Boerio, Maura L;
    • Guey, Stéphanie;
    • Aloui, Chaker;
    • Lee, Kwanghyuk;
    • Kraemer, Markus;
    • Alyemni, Saleh Omar;
    • Genomics, University of Washington Center for Mendelian;
    • Bamshad, Michael J;
    • Nickerson, Deborah A;
    • Tournier-Lasserve, Elisabeth;
    • Haider, Shozeb;
    • Jin, Sheng Chih
    Publication type:
    Article

  • Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1373, doi. 10.1093/brain/awac364
    By:
    • AlAbdi, Lama;
    • Desbois, Muriel;
    • Rusnac, Domniţa-Valeria;
    • Sulaiman, Raashda A;
    • Rosenfeld, Jill A;
    • Lalani, Seema;
    • Murdock, David R;
    • Burrage, Lindsay C;
    • Network, Undiagnosed Diseases;
    • Au, Ping Yee Billie;
    • Towner, Shelley;
    • Wilson, William G;
    • Wong, Lawrence;
    • Brunet, Theresa;
    • Strobl-Wildemann, Gertrud;
    • Burton, Jennifer E;
    • Hoganson, George;
    • McWalter, Kirsty;
    • Begtrup, Amber;
    • Zarate, Yuri A
    Publication type:
    Article

  • Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

    Published in:
    Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4202, doi. 10.1093/brain/awac295
    By:
    • Rosario, Michelle C do;
    • Bey, Guillermo Rodriguez;
    • Nmezi, Bruce;
    • Liu, Fang;
    • Oranburg, Talia;
    • Cohen, Ana S A;
    • Coffman, Keith A;
    • Brown, Maya R;
    • Kiselyov, Kirill;
    • Waisfisz, Quinten;
    • Flohil, Myrthe T;
    • Siddiqui, Shahyan;
    • Rosenfeld, Jill A;
    • Iglesias, Alejandro;
    • Girisha, Katta Mohan;
    • Wolf, Nicole I;
    • Padiath, Quasar Saleem;
    • Shukla, Anju
    Publication type:
    Article

  • Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.

    Published in:
    2022
    By:
    • Guerrini, Renzo;
    • Mei, Davide;
    • Kerti-Szigeti, Katalin;
    • Pepe, Sara;
    • Koenig, Mary Kay;
    • Allmen, Gretchen Von;
    • Cho, Megan T;
    • McDonald, Kimberly;
    • Baker, Janice;
    • Bhambhani, Vikas;
    • Powis, Zöe;
    • Rodan, Lance;
    • Nabbout, Rima;
    • Barcia, Giulia;
    • Rosenfeld, Jill A;
    • Bacino, Carlos A;
    • Mignot, Cyril;
    • Power, Lillian H;
    • Harris, Catharine J;
    • Marjanovic, Dragan
    Publication type:
    journal article

  • RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.

    Published in:
    2020
    By:
    • Scala, Marcello;
    • Mojarrad, Majid;
    • Riazuddin, Saima;
    • Brigatti, Karlla W;
    • Ammous, Zineb;
    • Cohen, Julie S;
    • Hosny, Heba;
    • Usmani, Muhammad A;
    • Shahzad, Mohsin;
    • Riazuddin, Sheikh;
    • Stanley, Valentina;
    • Eslahi, Atiye;
    • Person, Richard E;
    • Elbendary, Hasnaa M;
    • Comi, Anne M;
    • Poskitt, Laura;
    • Salpietro, Vincenzo;
    • Genomics, Queen Square;
    • Rosenfeld, Jill A;
    • Williams, Katie B
    Publication type:
    Letter

  • Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.

    Published in:
    Biochemical Journal, 2022, v. 479, n. 13, p. 1441, doi. 10.1042/BCJ20220209
    By:
    • Button, Emily L.;
    • Rossi, Joseph J.;
    • McDougal, Daniel P.;
    • Bruning, John B.;
    • Peet, Daniel J.;
    • Bersten, David C.;
    • Rosenfeld, Jill A.;
    • Whitelaw, Murray L.
    Publication type:
    Article

  • Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.

    Published in:
    Cerebellum, 2023, v. 22, n. 2, p. 206, doi. 10.1007/s12311-022-01379-3
    By:
    • Accogli, Andrea;
    • Lu, Shenzhao;
    • Musante, Ilaria;
    • Scudieri, Paolo;
    • Rosenfeld, Jill A.;
    • Severino, Mariasavina;
    • Baldassari, Simona;
    • Iacomino, Michele;
    • Riva, Antonella;
    • Balagura, Ganna;
    • Piccolo, Gianluca;
    • Minetti, Carlo;
    • Roberto, Denis;
    • Xia, Fan;
    • Razak, Razaali;
    • Lawrence, Emily;
    • Hussein, Mohamed;
    • Chang, Emmanuel Yih-Herng;
    • Holick, Michelle;
    • Calì, Elisa
    Publication type:
    Article

  • A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.

    Published in:
    Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00894-y
    By:
    • Kyle, Jennifer E.;
    • Stratton, Kelly G.;
    • Zink, Erika M.;
    • Kim, Young-Mo;
    • Bloodsworth, Kent J.;
    • Monroe, Matthew E.;
    • Undiagnosed Diseases Network;
    • Bacino, Carlos A.;
    • Hanchard, Neil A.;
    • Lewis, Richard A.;
    • Rosenfeld, Jill A.;
    • Scott, Daryl A.;
    • Tran, Alyssa A.;
    • Ward, Patricia A.;
    • Burrage, Lindsay C.;
    • Clark, Gary D.;
    • Alejandro, Mercedes E.;
    • Posey, Jennifer E.;
    • Wangler, Michael F.;
    • Lee, Brendan H.
    Publication type:
    Article

  • NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.

    Published in:
    eLife, 2015, p. 1, doi. 10.7554/eLife.10782
    By:
    • Gennarino, Vincenzo A.;
    • Alcott, Callison E.;
    • Chun-An Chen;
    • Chaudhury, Arindam;
    • Gillentine, Madelyn A.;
    • Rosenfeld, Jill A.;
    • Parikh, Sumit;
    • Wheless, James W.;
    • Roeder, Elizabeth R.;
    • Horovitz, Dafne DG;
    • Roney, Erin K.;
    • Smith, Janice L.;
    • Cheung, Sau W.;
    • Wei Li;
    • Neilson, Joel R.;
    • Schaaf, Christian P.;
    • Zoghbi, Huda Y.
    Publication type:
    Article

  • Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 1, p. 1, doi. 10.1002/mgg3.1542
    By:
    • Rossetti, Linda Z.;
    • Bekheirnia, Mir Reza;
    • Lewis, Andrea M.;
    • Mefford, Heather C.;
    • Golden‐Grant, Katie;
    • Tarczy‐Hornoch, Kristina;
    • Briere, Lauren C.;
    • Sweetser, David A.;
    • Walker, Melissa A.;
    • Kravets, Elijah;
    • Stevenson, David A.;
    • Bruenner, Georgette;
    • Sebastian, Jessica;
    • Knapo, Julia;
    • Rosenfeld, Jill A.;
    • Marcogliese, Paul C.;
    • Wangler, Michael F.
    Publication type:
    Article

  • Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1397
    By:
    • Cope, Heidi;
    • Spillmann, Rebecca;
    • Rosenfeld, Jill A.;
    • Brokamp, Elly;
    • Signer, Rebecca;
    • Schoch, Kelly;
    • Kelley, Emily G.;
    • Sullivan, Jennifer A.;
    • Macnamara, Ellen;
    • Lincoln, Sharyn;
    • Golden‐Grant, Katie;
    • Orengo, James P.;
    • Clark, Gary;
    • Burrage, Lindsay C.;
    • Posey, Jennifer E.;
    • Punetha, Jaya;
    • Robertson, Amy;
    • Cogan, Joy;
    • Phillips, John A.;
    • Martinez‐Agosto, Julian
    Publication type:
    Article

  • Characterization of the renal phenotype in RMND1‐related mitochondrial disease.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.973
    By:
    • Shayota, Brian J.;
    • Le, Nhon T.;
    • Bekheirnia, Nasim;
    • Rosenfeld, Jill A.;
    • Goldstein, Amy C.;
    • Moritz, Michael;
    • Bartholomew, Dennis W.;
    • Pastore, Matthew T.;
    • Xia, Fan;
    • Eng, Christine;
    • Yang, Yaping;
    • Lamb, Dolores J.;
    • Scaglia, Fernando;
    • Braun, Michael C.;
    • Bekheirnia, Mir Reza
    Publication type:
    Article

  • De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

    Published in:
    Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00473-3
    By:
    • Royer-Bertrand, Beryl;
    • Jequier Gygax, Marine;
    • Cisarova, Katarina;
    • Rosenfeld, Jill A.;
    • Bassetti, Jennifer A.;
    • Moldovan, Oana;
    • O'Heir, Emily;
    • Burrage, Lindsay C.;
    • Allen, Jake;
    • Emrick, Lisa T.;
    • Eastman, Emma;
    • Kumps, Camille;
    • Abbas, Safdar;
    • Van Winckel, Geraldine;
    • Chabane, Nadia;
    • Zackai, Elaine H.;
    • Lebon, Sebastien;
    • Keena, Beth;
    • Bhoj, Elizabeth J.;
    • Umair, Muhammad
    Publication type:
    Article

  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
    By:
    • Gillentine, Madelyn A.;
    • Wang, Tianyun;
    • Hoekzema, Kendra;
    • Rosenfeld, Jill;
    • Liu, Pengfei;
    • Guo, Hui;
    • Kim, Chang N.;
    • De Vries, Bert B. A.;
    • Vissers, Lisenka E. L. M.;
    • Nordenskjold, Magnus;
    • Kvarnung, Malin;
    • Lindstrand, Anna;
    • Nordgren, Ann;
    • Gecz, Jozef;
    • Iascone, Maria;
    • Cereda, Anna;
    • Scatigno, Agnese;
    • Maitz, Silvia;
    • Zanni, Ginevra;
    • Bertini, Enrico
    Publication type:
    Article

  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
    By:
    • Gillentine, Madelyn A.;
    • Wang, Tianyun;
    • Hoekzema, Kendra;
    • Rosenfeld, Jill;
    • Liu, Pengfei;
    • Guo, Hui;
    • Kim, Chang N.;
    • De Vries, Bert B. A.;
    • Vissers, Lisenka E. L. M.;
    • Nordenskjold, Magnus;
    • Kvarnung, Malin;
    • Lindstrand, Anna;
    • Nordgren, Ann;
    • Gecz, Jozef;
    • Iascone, Maria;
    • Cereda, Anna;
    • Scatigno, Agnese;
    • Maitz, Silvia;
    • Zanni, Ginevra;
    • Bertini, Enrico
    Publication type:
    Article

  • The contribution of mosaicism to genetic diseases and de novo pathogenic variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2482, doi. 10.1002/ajmg.a.63309
    By:
    • Tinker, Rory J.;
    • Bastarache, Lisa;
    • Ezell, Kimberly;
    • Kobren, Shilpa Nadimpalli;
    • Esteves, Cecilia;
    • Rosenfeld, Jill A.;
    • Macnamara, Ellen F.;
    • Hamid, Rizwan;
    • Cogan, Joy D.;
    • Rinker, David;
    • Mukharjee, Souhrid;
    • Glass, Ian;
    • Dipple, Katrina;
    • Phillips, John A.
    Publication type:
    Article

  • Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 776, doi. 10.1002/ajmg.a.63074
    By:
    • Chong, Shuk Ching;
    • Cao, Ye;
    • Fung, Eva L. W.;
    • Kleppe, Soledad;
    • Gripp, Karen W.;
    • Hertecant, Jozef;
    • El‐Hattab, Ayman W.;
    • Suleiman, Jehan;
    • Clark, Gary;
    • von Allmen, Gretchen;
    • Rodziyevska, Olga;
    • Lewis, Richard A.;
    • Rosenfeld, Jill A.;
    • Dong, Jie;
    • Wang, Xia;
    • Miller, Marcus J.;
    • Bi, Weimin;
    • Liu, Pengfei;
    • Scaglia, Fernando
    Publication type:
    Article

  • Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2958, doi. 10.1002/ajmg.a.62919
    By:
    • Hardcastle, Amy;
    • Berry, Aliska M.;
    • Campbell, Ian M.;
    • Zhao, Xiaonan;
    • Liu, Pengfei;
    • Gerard, Amanda E.;
    • Rosenfeld, Jill A.;
    • Sisoudiya, Saumya D.;
    • Hernandez‐Garcia, Andres;
    • Loddo, Sara;
    • Di Tommaso, Silvia;
    • Novelli, Antonio;
    • Dentici, Maria L.;
    • Capolino, Rossella;
    • Digilio, Maria C.;
    • Graziani, Ludovico;
    • Rustad, Cecilie F.;
    • Neas, Katherine;
    • Ferrero, Giovanni B.;
    • Brusco, Alfredo
    Publication type:
    Article

  • A novel, de novo intronic variant in POGZ causes White–Sutton syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2198, doi. 10.1002/ajmg.a.62747
    By:
    • Merriweather, Ashanta;
    • Murdock, David R.;
    • Rosenfeld, Jill A.;
    • Dai, Hongzheng;
    • Ketkar, Shamika;
    • Emrick, Lisa;
    • Nicholas, Sarah;
    • Lewis, Richard A.;
    • Bacino, Carlos A.;
    • Scott, Daryl A.;
    • Lee, Brendan;
    • Sutton, Vernon Reid;
    • Potocki, Lorraine;
    • Burrage, Lindsay C.
    Publication type:
    Article

  • PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1868, doi. 10.1002/ajmg.a.62704
    By:
    • Magyar, Christina L.;
    • Murdock, David R.;
    • Burrage, Lindsay C.;
    • Dai, Hongzheng;
    • Lalani, Seema R.;
    • Lewis, Richard A.;
    • Lin, Yuezhen;
    • Astudillo, Marcela F.;
    • Rosenfeld, Jill A.;
    • Tran, Alyssa A.;
    • Gibson, James B.;
    • Bacino, Carlos A.;
    • Lee, Brendan H.;
    • Chao, Hsiao‐Tuan
    Publication type:
    Article

  • A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
    By:
    • Keehan, Laura;
    • Jiang, Ming‐Ming;
    • Li, Xiaohui;
    • Marom, Ronit;
    • Dai, Hongzheng;
    • Murdock, David;
    • Liu, Pengfei;
    • Hunter, Jill V.;
    • Heaney, Jason D.;
    • Robak, Laurie;
    • Emrick, Lisa;
    • Lotze, Timothy;
    • Blieden, Lauren S.;
    • Lewis, Richard Alan;
    • Levin, Alex V.;
    • Capasso, Jenina;
    • Craigen, William J.;
    • Rosenfeld, Jill A.;
    • Lee, Brendan;
    • Burrage, Lindsay C.
    Publication type:
    Article

  • Heterozygous variants in SPTBN1 cause intellectual disability and autism.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2037, doi. 10.1002/ajmg.a.62201
    By:
    • Rosenfeld, Jill A.;
    • Xiao, Rui;
    • Bekheirnia, Mir Reza;
    • Kanani, Farah;
    • Parker, Michael J.;
    • Koenig, Mary K.;
    • Haeringen, Arie;
    • Ruivenkamp, Claudia;
    • Rosmaninho‐Salgado, Joana;
    • Almeida, Pedro M.;
    • Sá, Joaquim;
    • Pinto Basto, Jorge;
    • Palen, Emily;
    • Oetjens, Kathryn F.;
    • Burrage, Lindsay C.;
    • Xia, Fan;
    • Liu, Pengfei;
    • Eng, Christine M.;
    • Yang, Yaping;
    • Posey, Jennifer E.
    Publication type:
    Article

  • Clinical characterization of individuals with the distal 1q21.1 microdeletion.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1388, doi. 10.1002/ajmg.a.62104
    By:
    • Edwards, Stacey D.;
    • Schulze, Katharina V.;
    • Rosenfeld, Jill A.;
    • Westerfield, Lauren E.;
    • Gerard, Amanda;
    • Yuan, Bo;
    • Grigorenko, Elena L.;
    • Posey, Jennifer E.;
    • Bi, Weimin;
    • Liu, Pengfei
    Publication type:
    Article

  • Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1906, doi. 10.1002/ajmg.a.61641
    By:
    • Schmidt, Johanna L.;
    • Pizzino, Amy;
    • Nicholl, Jessica;
    • Foley, Allison;
    • Wang, Yue;
    • Rosenfeld, Jill A.;
    • Mighion, Lindsey;
    • Bean, Lora;
    • Silva, Cristina;
    • Cho, Megan T.;
    • Truty, Rebecca;
    • Garcia, John;
    • Speare, Virginia;
    • Blanco, Kirsten;
    • Powis, Zoe;
    • Hobson, Grace M.;
    • Kirwin, Susan;
    • Krock, Bryan;
    • Lee, Hane;
    • Deignan, Joshua L.
    Publication type:
    Article

  • Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 652, doi. 10.1002/ajmg.a.61466
    By:
    • Sewani, Maham;
    • Nugent, Kimberly;
    • Blackburn, Patrick R.;
    • Tarnowski, Jessica M.;
    • Hernandez‐Garcia, Andres;
    • Amiel, Jeanne;
    • Whalen, Sandra;
    • Keren, Boris;
    • Courtin, Thomas;
    • Rosenfeld, Jill A.;
    • Yang, Yaping;
    • Patterson, Marc C.;
    • Pichurin, Pavel;
    • McLean, Scott D.;
    • Scott, Daryl A.
    Publication type:
    Article

  • Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome).

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 38, doi. 10.1002/ajmg.a.61380
    By:
    • Assia Batzir, Nurit;
    • Posey, Jennifer E.;
    • Song, Xiaofei;
    • Akdemir, Zeynep Coban;
    • Rosenfeld, Jill A.;
    • Brown, Chester W.;
    • Chen, Emily;
    • Holtrop, Shannon G.;
    • Mizerik, Elizabeth;
    • Nieto Moreno, Margarita;
    • Payne, Katelyn;
    • Raas‐Rothschild, Annick;
    • Scott, Richard;
    • Vernon, Hilary J.;
    • Zadeh, Neda;
    • Lupski, James R.;
    • Sutton, V. Reid
    Publication type:
    Article

  • Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1376, doi. 10.1002/ajmg.a.61182
    By:
    • Rossetti, Linda Z.;
    • Glinton, Kevin;
    • Yuan, Bo;
    • Liu, Pengfei;
    • Pillai, Nishitha;
    • Mizerik, Elizabeth;
    • Magoulas, Pilar;
    • Rosenfeld, Jill A.;
    • Karaviti, Lefkothea;
    • Sutton, Vernon R.;
    • Lalani, Seema R.;
    • Scott, Daryl A.
    Publication type:
    Article

  • Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 475, doi. 10.1002/ajmg.a.61007
    By:
    • Handoko, Maureen;
    • Emrick, Lisa T.;
    • Rosenfeld, Jill A.;
    • Wang, Xia;
    • Tran, Alyssa A.;
    • Turner, Alicia;
    • Belmont, John W.;
    • Lee, Brendan H.;
    • Bacino, Carlos A.;
    • Chao, Hsiao‐Tuan
    Publication type:
    Article

  • 6q25.1 ( TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1848, doi. 10.1002/ajmg.a.38254
    By:
    • Cheng, Andrew;
    • Dinulos, Mary Beth P.;
    • Neufeld‐Kaiser, Whitney;
    • Rosenfeld, Jill;
    • Kyriss, McKenna;
    • Madan‐Khetarpal, Suneeta;
    • Risheg, Hiba;
    • Byers, Peter H.;
    • Liu, Yajuan J.
    Publication type:
    Article

  • Cover Image, Volume 173A, Number 2, February 2017.

    Published in:
    2017
    By:
    • Maussion, Gilles;
    • Cruceanu, Cristiana;
    • Rosenfeld, Jill A.;
    • Bell, Scott C.;
    • Jollant, Fabrice;
    • Szatkiewicz, Jin;
    • Collins, Ryan L.;
    • Hanscom, Carrie;
    • Kolobova, Ilaria;
    • de Champfleur, Nicolas Menjot;
    • Blumenthal, Ian;
    • Chiang, Colby;
    • Ota, Vanessa;
    • Hultman, Christina;
    • O'Dushlaine, Colm;
    • McCarroll, Steve;
    • Alda, Martin;
    • Jacquemont, Sebastien;
    • Ordulu, Zehra;
    • Marshall, Christian R.
    Publication type:
    Other

  • Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 395, doi. 10.1002/ajmg.a.38021
    By:
    • Maussion, Gilles;
    • Cruceanu, Cristiana;
    • Rosenfeld, Jill A.;
    • Bell, Scott C.;
    • Jollant, Fabrice;
    • Szatkiewicz, Jin;
    • Collins, Ryan L.;
    • Hanscom, Carrie;
    • Kolobova, Ilaria;
    • de Champfleur, Nicolas Menjot;
    • Blumenthal, Ian;
    • Chiang, Colby;
    • Ota, Vanessa;
    • Hultman, Christina;
    • O'Dushlaine, Colm;
    • McCarroll, Steve;
    • Alda, Martin;
    • Jacquemont, Sebastien;
    • Ordulu, Zehra;
    • Marshall, Christian R.
    Publication type:
    Article

  • Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 967, doi. 10.1002/ajmg.a.37519
    By:
    • Grams, Sarah E.;
    • Argiropoulos, Bob;
    • Lines, Matthew;
    • Chakraborty, Pranesh;
    • Mcgowan‐Jordan, Jean;
    • Geraghty, Michael T.;
    • Tsang, Marilyn;
    • Eswara, Marthand;
    • Tezcan, Kamer;
    • Adams, Kelly L.;
    • Linck, Leesa;
    • Himes, Patricia;
    • Kostiner, Dana;
    • Zand, Dina J.;
    • Stalker, Heather;
    • Driscoll, Daniel J.;
    • Huang, Taosheng;
    • Rosenfeld, Jill A.;
    • Li, Xu;
    • Chen, Emily
    Publication type:
    Article

  • Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 999, doi. 10.1002/ajmg.a.37537
    By:
    • Glassford, Megan R.;
    • Rosenfeld, Jill A.;
    • Freedman, Alexa A.;
    • Zwick, Michael E.;
    • Mulle, Jennifer G.
    Publication type:
    Article

  • Duplication of HEY2 in cardiac and neurologic development.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2145, doi. 10.1002/ajmg.a.37086
    By:
    • Jordan, Valerie K.;
    • Rosenfeld, Jill A.;
    • Lalani, Seema R.;
    • Scott, Daryl A.
    Publication type:
    Article

  • Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2052, doi. 10.1002/ajmg.a.37120
    By:
    • Barber, John C. K.;
    • Rosenfeld, Jill A.;
    • Graham, John M.;
    • Kramer, Nancy;
    • Lachlan, Katherine L.;
    • Bateman, Mark S.;
    • Collinson, Morag N.;
    • Stadheim, Barbro Fossøy;
    • Turner, Claire L. S.;
    • Gauthier, Jacqueline N.;
    • Reimschisel, Tyler E.;
    • Qureshi, Athar M.;
    • Dabir, Tabib A.;
    • Humphreys, Mervyn W.;
    • Marble, Michael;
    • Huang, Taosheng;
    • Beal, Sarah J.;
    • Massiah, Joanne;
    • Taylor, Emma‐Jane;
    • Wynn, Sarah L.
    Publication type:
    Article

  • Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1061, doi. 10.1002/ajmg.a.36973
    By:
    • Weaver, David D.;
    • Norby, Audrey R.;
    • Rosenfeld, Jill A.;
    • Proud, Virginia K.;
    • Spangler, Brooke E.;
    • Ming, Jeffrey E.;
    • Chisholm, Elizabeth;
    • Zackai, Elaine H.;
    • Lee, Beom Hee;
    • Edelmann, Lisa;
    • Desnick, Robert J.
    Publication type:
    Article

  • Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 345, doi. 10.1002/ajmg.a.36866
    By:
    • Rosenfeld, Jill A.;
    • Fox, Joyce E.;
    • Descartes, Maria;
    • Brewer, Fallon;
    • Stroud, Tracy;
    • Gorski, Jerome L.;
    • Upton, Sheila J.;
    • Moeschler, John B.;
    • Monteleone, Berrin;
    • Neill, Nicholas J.;
    • Lamb, Allen N.;
    • Ballif, Blake C.;
    • Shaffer, Lisa G.;
    • Ravnan, J. Britt
    Publication type:
    Article

  • Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 259, doi. 10.1002/ajmg.a.36163
    By:
    • Overhoff, Justin;
    • Rabideau, Marina M.;
    • Bird, Lynne M.;
    • Schweitzer, Daniela N.;
    • Haynes, Karla;
    • Schultz, Roger A.;
    • Shaffer, Lisa G.;
    • Rosenfeld, Jill A.;
    • Ellison, Jay W.
    Publication type:
    Article

  • Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 62, doi. 10.1002/ajmg.a.36201
    By:
    • Chowdhury, Shimul;
    • Bandholz, Anne M.;
    • Parkash, Sandhya;
    • Dyack, Sarah;
    • Rideout, Andrea L.;
    • Leppig, Kathleen A.;
    • Thiese, Heidi;
    • Wheeler, Patricia G.;
    • Tsang, Marilyn;
    • Ballif, Blake C.;
    • Shaffer, Lisa G.;
    • Torchia, Beth S.;
    • Ellison, Jay W.;
    • Rosenfeld, Jill A.
    Publication type:
    Article

  • The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1833, doi. 10.1002/ajmg.a.35996
    By:
    • Curry, Cynthia J.;
    • RosENfeld, Jill A.;
    • Grant, Erica;
    • Gripp, KarEN W.;
    • Anderson, Carol;
    • Aylsworth, Arthur S.;
    • Saad, Taha BEN;
    • Chizhikov, Victor V.;
    • Dybose, Giedre;
    • Fagerberg, Christina;
    • Falco, Michelle;
    • Fels, Christina;
    • Fichera, Marco;
    • Graakjaer, Jesper;
    • Greco, Donatella;
    • Hair, JENnifer;
    • Hopkins, Elizabeth;
    • Huggins, MarlENe;
    • Ladda, Roger;
    • Li, Chumei
    Publication type:
    Article

  • Investigation of NRXN1 deletions: Clinical and molecular characterization.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 717, doi. 10.1002/ajmg.a.35780
    By:
    • Dabell, Mindy Preston;
    • Rosenfeld, Jill A.;
    • Bader, Patricia;
    • Escobar, Luis F.;
    • El‐Khechen, Dima;
    • Vallee, Stephanie E.;
    • Dinulos, Mary Beth Palko;
    • Curry, Cynthia;
    • Fisher, Jamie;
    • Tervo, Raymond;
    • Hannibal, Mark C.;
    • Siefkas, Kiana;
    • Wyatt, Philip R.;
    • Hughes, Lauren;
    • Smith, Rosemarie;
    • Ellingwood, Sara;
    • Lacassie, Yves;
    • Stroud, Tracy;
    • Farrell, Sandra A.;
    • Sanchez‐Lara, Pedro A.
    Publication type:
    Article

  • 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 487, doi. 10.1002/ajmg.a.35767
    By:
    • Barber, John C.K.;
    • Rosenfeld, Jill A.;
    • Foulds, Nicola;
    • Laird, Sophie;
    • Bateman, Mark S.;
    • Thomas, N. Simon;
    • Baker, Samantha;
    • Maloney, Viv K.;
    • Anilkumar, Arayamparambil;
    • Smith, Wendy E.;
    • Banks, Valerie;
    • Ellingwood, Sara;
    • Kharbutli, Yara;
    • Mehta, Lakshmi;
    • Eddleman, Keith A.;
    • Marble, Michael;
    • Zambrano, Regina;
    • Crolla, John A.;
    • Lamb, Allen N.
    Publication type:
    Article

  • Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2139, doi. 10.1002/ajmg.a.35502
    By:
    • Strehle, Eugen-Matthias;
    • Yu, Linbo;
    • Rosenfeld, Jill A.;
    • Donkervoort, Sandra;
    • Zhou, Yulin;
    • Chen, Tian-Jian;
    • Martinez, Jose E.;
    • Fan, Yao-Shan;
    • Barbouth, Deborah;
    • Zhu, Hongbo;
    • Vaglio, Alicia;
    • Smith, Rosemarie;
    • Stevens, Cathy A.;
    • Curry, Cynthia J.;
    • Ladda, Roger L.;
    • Fan, Zheng (Jane);
    • Fox, Joyce E.;
    • Martin, Judith A.;
    • Abdel-Hamid, Hoda Z.;
    • McCracken, Elizabeth A.
    Publication type:
    Article

  • Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2152, doi. 10.1002/ajmg.a.35574
    By:
    • DeScipio, Cheryl;
    • Conlin, Laura;
    • Rosenfeld, Jill;
    • Tepperberg, James;
    • Pasion, Romela;
    • Patel, Ankita;
    • McDonald, Marie T.;
    • Aradhya, Swaroop;
    • Ho, Darlene;
    • Goldstein, Jennifer;
    • McGuire, Marianne;
    • Mulchandani, Surabhi;
    • Medne, Livija;
    • Rupps, Rosemarie;
    • Serrano, Alvaro H.;
    • Thorland, Erik C.;
    • Tsai, Anne C.-H.;
    • Hilhorst-Hofstee, Yvonne;
    • Ruivenkamp, Claudia A.L.;
    • Van Esch, Hilde
    Publication type:
    Article

  • Report of a mother and daughter with the 12q14 microdeletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 417, doi. 10.1002/ajmg.a.34397
    By:
    • Bibb, Audrey L.;
    • Rosenfeld, Jill A.;
    • Weaver, David D.
    Publication type:
    Article

  • Microdeletion of Xq28 involving the AFF2 ( FMR2) gene in two unrelated males with developmental delay.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3110, doi. 10.1002/ajmg.a.34345
    By:
    • Sahoo, Trilochan;
    • Theisen, Aaron;
    • Marble, Michael;
    • Tervo, Raymond;
    • Rosenfeld, Jill A.;
    • Torchia, Beth S.;
    • Shaffer, Lisa G.
    Publication type:
    Article

  • Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1293, doi. 10.1038/ng.3120
    By:
    • Antonacci, Francesca;
    • Miroballo, Mattia;
    • Dennis, Megan Y;
    • Sudmant, Peter H;
    • Malig, Maika;
    • Denman, Laura;
    • Munson, Brenton;
    • Huddleston, John;
    • Vives, Laura;
    • Raja, Archana;
    • Eichler, Evan E;
    • Steinberg, Karyn Meltz;
    • Graves, Tina A;
    • Wilson, Richard K;
    • Rosenfeld, Jill A;
    • Stuart, Andrew;
    • Tang, Joyce;
    • Amemiya, Chris T;
    • Shaffer, Lisa G
    Publication type:
    Article

  • Refining analyses of copy number variation identifies specific genes associated with developmental delay.

    Published in:
    Nature Genetics, 2014, v. 46, n. 10, p. 1063, doi. 10.1038/ng.3092
    By:
    • Coe, Bradley P;
    • Witherspoon, Kali;
    • Baker, Carl;
    • Krumm, Nik;
    • Shendure, Jay;
    • Lockhart, Paul J;
    • Scheffer, Ingrid E;
    • Tervo, Raymond;
    • Peeters, Hilde;
    • Thompson, Elizabeth;
    • Haan, Eric;
    • O'Roak, Brian J;
    • Fichera, Marco;
    • Gécz, Jozef;
    • Eichler, Evan E;
    • Rosenfeld, Jill A;
    • Torchia, Beth S;
    • van Bon, Bregje W M;
    • Vulto-van Silfhout, Anneke T;
    • Vissers, Lisenka E L M
    Publication type:
    Article