Works matching AU Scaglia, Fernando

Results: 78

Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400

By:

Jordan, Valerie K.;
Fregeau, Brieana;
Ge, Xiaoyan;
Giordano, Jessica;
Wapner, Ronald J.;
Balci, Tugce B.;
Carter, Melissa T.;
Bernat, John A.;
Moccia, Amanda N.;
Srivastava, Anshika;
Martin, Donna M.;
Bielas, Stephanie L.;
Pappas, John;
Svoboda, Melissa D.;
Rio, Marlène;
Boddaert, Nathalie;
Cantagrel, Vincent;
Lewis, Andrea M.;
Scaglia, Fernando;
Undiagnosed Diseases Network

Publication type:

Article

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects.

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 882, doi. 10.1002/humu.22307

By:

Tang, Sha;
Wang, Jing;
Zhang, Victor Wei;
Li, Fang‐Yuan;
Landsverk, Megan;
Cui, Hong;
Truong, Cavatina K.;
Wang, Guoli;
Chen, Li Chieh;
Graham, Brett;
Scaglia, Fernando;
Schmitt, Eric S.;
Craigen, William J.;
Wong, Lee‐Jun C.

Publication type:

Article

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 165, doi. 10.1002/humu.21614

By:

Stankiewicz, Paweł;
Kulkarni, Shashikant;
Dharmadhikari, Avinash V.;
Sampath, Srirangan;
Bhatt, Samarth S.;
Shaikh, Tamim H.;
Xia, Zhilian;
Pursley, Amber N.;
Cooper, M. Lance;
Shinawi, Marwan;
Paciorkowski, Alex R.;
Grange, Dorothy K.;
Noetzel, Michael J.;
Saunders, Scott;
Simons, Paul;
Summar, Marshall;
Lee, Brendan;
Scaglia, Fernando;
Fellmann, Florence;
Martinet, Danielle

Publication type:

Article

Molecular spectrum of SLC22A5 ( OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. E1632, doi. 10.1002/humu.21311

By:

Li, Fang-Yuan;
El-Hattab, Ayman W.;
Bawle, Erawati V.;
Boles, Richard G.;
Schmitt, Eric S.;
Scaglia, Fernando;
Wong, Lee-Jun

Publication type:

Article

First Neogene skulls of Doedicurinae (Xenarthra, Glyptodontidae): morphology and phylogenetic implications.

Published in:

Historical Biology, 2016, v. 28, n. 3, p. 423, doi. 10.1080/08912963.2014.969254

By:

Zurita, Alfredo E.;
Taglioretti, Matías;
Reyes, Martín de los;
Oliva, Cristian;
Scaglia, Fernando

Publication type:

Article

Recommendations for the Management of Strokelike Episodes in PatientsWith Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.

Published in:

JAMA Neurology, 2016, v. 73, n. 5, p. 591, doi. 10.1001/jamaneurol.2015.5072

By:

Koenig, Mary Kay;
Emrick, Lisa;
Karaa, Amel;
Korson, Mark;
Scaglia, Fernando;
Parikh, Sumit;
Goldstein, Amy

Publication type:

Article

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Published in:

Nature Genetics, 2008, v. 40, n. 12, p. 1466, doi. 10.1038/ng.279

By:

Brunetti-Pierri, Nicola;
Berg, Jonathan S.;
Scaglia, Fernando;
Belmont, John;
Bacino, Carlos A.;
Sahoo, Trilochan;
Lalani, Seema R.;
Graham, Brett;
Lee, Brendan;
Shinawi, Marwan;
Shen, Joseph;
Kang, Sung-Hae L.;
Pursley, Amber;
Lotze, Timothy;
Kennedy, Gail;
Lansky-Shafer, Susan;
Weaver, Christine;
Roeder, Elizabeth R.;
Grebe, Theresa A.;
Arnold, Georgianne L.

Publication type:

Article

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.

Published in:

BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03571-w

By:

Walimbe, Ameya S.;
Machol, Keren;
Kralik, Stephen F.;
Mizerik, Elizabeth A.;
Yoel Gofn;
Bekheirnia, Mir Reza;
Gijavanekar, Charul;
Elsea, Sarah H.;
Emrick, Lisa T.;
Scaglia, Fernando

Publication type:

Article

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.

Published in:

Global Pediatric Health, 2019, v. 6, p. 1, doi. 10.1177/2333794X19830696

By:

Goin-Kochel, Robin P.;
Scaglia, Fernando;
Schaaf, Christian P.;
Berry, Leandra N.;
Dang, Dianne;
Nowel, Kerri P.;
Laakman, Anna L.;
Dowell, Lauren R.;
Minard, Charles G.;
Loh, Alvin;
Beaudet, Arthur L.

Publication type:

Article

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.

Published in:

Global Pediatric Health, 2019, v. 6, p. N.PAG, doi. 10.1177/2333794X19830696

By:

Goin-Kochel, Robin P.;
Scaglia, Fernando;
Schaaf, Christian P.;
Berry, Leandra N.;
Dang, Dianne;
Nowel, Kerri P.;
Laakman, Anna L.;
Dowell, Lauren R.;
Minard, Charles G.;
Loh, Alvin;
Beaudet, Arthur L.

Publication type:

Article

The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options.

Published in:

2006

By:

Scaglia F;
Northrop JL;
Scaglia, Fernando;
Northrop, Jennifer L

Publication type:

journal article

The Mitochondrial Myopathy Encephalopathy, Lactic Acidosis withÂ Stroke-Like Episodes (MELAS) Syndrome: A Review of Treatment Options.

Published in:

CNS Drugs, 2006, v. 20, n. 6, p. 443, doi. 10.2165/00023210-200620060-00002

By:

Scaglia, Fernando;
Northrop, Jennifer L.

Publication type:

Article

Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease.

Published in:

Muscle & Nerve, 2008, v. 37, n. 2, p. 150, doi. 10.1002/mus.20917

By:

Scaglia, Fernando;
Wong, Lee-Jun C.

Publication type:

Article

Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy.

Published in:

Pediatric Blood & Cancer, 2011, v. 57, n. 3, p. 454, doi. 10.1002/pbc.23162

By:

Kamdar, Kala Y.;
Krull, Kevin R.;
El-Zein, Randa A.;
Brouwers, Pim;
Potter, Brian S.;
Harris, Lynnette L.;
Holm, Suzanne;
Dreyer, ZoAnn;
Scaglia, Fernando;
Etzel, Carol J.;
Bondy, Melissa;
Okcu, M. Fatih

Publication type:

Article

Ornithine transcarbamylase deficiency: A possible risk factor for thrombosis.

Published in:

Pediatric Blood & Cancer, 2009, v. 53, n. 1, p. 100, doi. 10.1002/pbc.22016

By:

Venkateswaran, Lakshmi;
Scaglia, Fernando;
McLin, Valerie;
Hertel, Paula;
Shchelochkov, Oleg A.;
Karpen, Saul;
Mahoney, Donald;
Yee, Donald L.

Publication type:

Article

Phenylbutyrate reduces plasma leucine concentrations without affecting the flux of leucine.

Published in:

FASEB Journal, 2007, v. 21, n. 5, p. A335, doi. 10.1096/fasebj.21.5.a335

By:

Marini, Juan C.;
Lanpher, Brendan;
Scaglia, Fernando;
Carter, Susan;
Garlick, Peter J.;
Jahoor, Farook;
Lee, Brendan

Publication type:

Article

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4937, doi. 10.1093/hmg/ddx377

By:

Yanyan Peng;
Shinde, Deepali N.;
Valencia, C. Alexander;
Jun-Song Mo;
Rosenfeld, Jill;
Cho, Megan Truitt;
Chamberlin, Adam;
Zhuo Li;
Jie Liu;
Baoheng Gui;
Brockhage, Rachel;
Basinger, Alice;
Alvarez-Leon, Brenda;
Heydemann, Peter;
Magoulas, Pilar L.;
Lewis, Andrea M.;
Scaglia, Fernando;
Gril, Solange;
Shuk Ching Chong;
Bower, Matthew

Publication type:

Article

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1846, doi. 10.1093/hmg/ddw059

By:

Yu-Hsin Chao;
Robak, Laurie A.;
Fan Xia;
Koenig, Mary K.;
Adesina, Adekunle;
Bacino, Carlos A.;
Scaglia, Fernando;
Bellen, Hugo J.;
Wangler, Michael F.

Publication type:

Article

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium‐Dependent Multivitamin Transporter Deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64014

By:

Walimbe, Ameya S.;
Waskow, Emily;
Mackay, Laura;
Miller, Marcus;
Gijavanekar, Charul;
Difalco, Charles R.;
Elsea, Sarah H.;
Scaglia, Fernando

Publication type:

Article

Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63589

By:

Gerard, Amanda;
Mizerik, Elizabeth;
Mohila, Carrie A.;
AlAwami, Sarah;
Hunter, Jill V.;
Kearney, Debra L.;
Lalani, Seema R.;
Scaglia, Fernando

Publication type:

Article

Heteroplasmic pathogenic m.12315G>A variant in MT‐TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63461

By:

Snyder, Matthew T.;
Manor, Joshua;
Gijavanekar, Charul;
Mizerik, Elizabeth;
Kralik, Stephen F.;
Elsea, Sarah H.;
Machol, Keren;
Emrick, Lisa;
Scaglia, Fernando

Publication type:

Article

Novel phenotype of aortic root dilatation and late‐onset metabolic decompensation in a patient with TMEM70 deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1366, doi. 10.1002/ajmg.a.63131

By:

Mackay, Laura;
Gijavanekar, Charul;
Streff, Haley;
Price, Jack F.;
Elsea, Sarah H.;
Scaglia, Fernando

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

Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2718, doi. 10.1002/ajmg.a.62889

By:

Gofin, Yoel;
Zhao, Xiaonan;
Gerard, Amanda;
Scaglia, Fernando;
Wangler, Michael F.;
Schrier Vergano, Samantha A.;
Scott, Daryl A.

Publication type:

Article

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 259, doi. 10.1002/ajmg.a.62482

By:

Odom, John;
Amin, Hitha;
Gijavanekar, Charul;
Elsea, Sarah H.;
Kralik, Stephen;
Chinen, Javier;
Lin, Yuezhen;
Yates, Amber Meshell Mayfield;
Mizerik, Elizabeth;
Potocki, Lorraine;
Scaglia, Fernando

Publication type:

Article

Expansion of the clinical phenotype of GALE deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3118, doi. 10.1002/ajmg.a.62384

By:

Markovitz, Rebecca;
Owen, Nichole;
Satter, Lisa Forbes;
Kirk, Susan;
Mahoney, Donald H.;
Bertuch, Alison A.;
Scaglia, Fernando

Publication type:

Article

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2781, doi. 10.1002/ajmg.a.61851

By:

Pillai, Nishitha R.;
Amin, Hitha;
Gijavanekar, Charul;
Liu, Ning;
Issaq, Niveen;
Broniowska, Katarzyna A.;
Bertuch, Alison A.;
Sutton, V. Reid;
Elsea, Sarah H.;
Scaglia, Fernando

Publication type:

Article

Mitochondrial energetic impairment in a patient with late‐onset glutaric acidemia Type 2.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2426, doi. 10.1002/ajmg.a.61786

By:

Xiao, Changrui;
Astiazaran‐Symonds, Esteban;
Basu, Shrabani;
Kisling, Monisha;
Scaglia, Fernando;
Chapman, Kimberly A.;
Wang, Yudong;
Vockley, Jerry;
Ferreira, Carlos R.

Publication type:

Article

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 755, doi. 10.1002/ajmg.a.61491

By:

Birjiniuk, Alona;
Glinton, Kevin E.;
Villafranco, Natalie;
Boyer, Suzanne;
Laufman, Jason;
Mizerik, Elizabeth;
Scott, Daryl;
Elsea, Sarah H.;
Galambos, Csaba;
Varghese, Nidhy P.;
Scaglia, Fernando

Publication type:

Article

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2138, doi. 10.1002/ajmg.a.61288

By:

Pillai, Nishitha R.;
AlDhaheri, Noura S.;
Ghosh, Rajarshi;
Lim, Jaehyung;
Streff, Haley;
Nayak, Anuranjita;
Graham, Brett H.;
Hanchard, Neil A.;
Elsea, Sarah H.;
Scaglia, Fernando

Publication type:

Article

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1015, doi. 10.1002/ajmg.a.61104

By:

Tam, Allison;
AlDhaheri, Noura Salem;
Mysore, Krupa;
Tessier, Mary Elizabeth;
Goss, John;
Fernandez, Luis A.;
D'Alessandro, Anthony M.;
Schwoerer, Jessica Scott;
Rice, Gregory M.;
Elsea, Sarah H.;
Scaglia, Fernando

Publication type:

Article

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 803, doi. 10.1002/ajmg.a.61074

By:

Shayota, Brian J.;
Soler‐Alfonso, Claudia;
Bekheirnia, Mir Reza;
Mizerik, Elizabeth;
Boyer, Suzy W.;
Xiao, Rui;
Yang, Yaping;
Elsea, Sarah H.;
Scaglia, Fernando

Publication type:

Article

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1184, doi. 10.1002/ajmg.a.38654

By:

Stowe, Robert C.;
Sun, Qin;
Elsea, Sarah H.;
Scaglia, Fernando

Publication type:

Article

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2680, doi. 10.1002/ajmg.a.38388

By:

Leduc, Magalie S.;
Chao, Hsiao‐Tuan;
Qu, Chunjing;
Walkiewicz, Magdalena;
Xiao, Rui;
Magoulas, Pilar;
Pan, Shujuan;
Beuten, Joke;
He, Weimin;
Bernstein, Jonathan A.;
Schaaf, Christian P.;
Scaglia, Fernando;
Eng, Christine M.;
Yang, Yaping

Publication type:

Article

Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2711, doi. 10.1002/ajmg.a.37809

By:

Arunrut, Teda;
Sabbadini, Marta;
Jain, Mahim;
Machol, Keren;
Scaglia, Fernando;
Slavotinek, Anne

Publication type:

Article

Corrigendum to 'Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation'.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2496, doi. 10.1002/ajmg.a.37192

By:

Ziats, Mark N.;
Comeaux, Matthew S.;
Yang, Yaping;
Scaglia, Fernando;
Elsea, Sarah H.;
Sun, Qin;
Beaudet, Arthur L.;
Schaaf, Christian P.

Publication type:

Article

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2162, doi. 10.1002/ajmg.a.37144

By:

Ziats, Mark N.;
Comeaux, Mathew S.;
Yang, Yaping;
Scaglia, Fernando;
Elsea, Sarah H.;
Sun, Qin;
Beaudet, Arthur L.;
Schaaf, Christian P.

Publication type:

Article

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 914, doi. 10.1002/ajmg.a.36948

By:

Sarkar, Arindam;
Emrick, Lisa T.;
Smith, Eboni M.;
Austin, Elise G.;
Yang, Yaping;
Hunter, Jill V.;
Scaglia, Fernando;
Lalani, Seema R.

Publication type:

Article

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1891, doi. 10.1002/ajmg.a.35439

By:

Hosoki, Kana;
Ohta, Tohru;
Natsume, Jun;
Imai, Sumiko;
Okumura, Akihisa;
Matsui, Takeshi;
Harada, Naoki;
Bacino, Carlos A.;
Scaglia, Fernando;
Jones, Jeremy Y.;
Niikawa, Norio;
Saitoh, Shinji

Publication type:

Article

Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.

Published in:

2022

By:

Manor, Joshua;
Calame, Daniel G.;
Gijavanekar, Charul;
Tran, Alyssa;
Fatih, Jawid M.;
Lalani, Seema R.;
Mizerik, Elizabeth;
Parnes, Mered;
Mehta, Vidya P.;
Adesina, Adekunle M.;
Lupski, James R.;
Scaglia, Fernando;
Elsea, Sarah H.

Publication type:

Editorial

The expanding neurological phenotype of DNM1L-related disorders.

Published in:

2018

By:

Wangler, Michael F.;
Batzir, Nurit Assia;
Robak, Laurie A.;
Koenig, Mary K.;
Bacino, Carlos A.;
Scaglia, Fernando;
Bellen, Hugo J.;
Assia Batzir, Nurit

Publication type:

Letter

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

Published in:

Human Genetics, 2009, v. 126, n. 4, p. 589, doi. 10.1007/s00439-009-0706-x

By:

El-Hattab, Ayman W.;
Smolarek, Teresa A.;
Walker, Martha E.;
Schorry, Elizabeth K.;
Immken, LaDonna L.;
Patel, Gayle;
Abbott, Mary-Alice;
Lanpher, Brendan C.;
Zhishuo Ou;
Kang, Sung-Hae L.;
Patel, Ankita;
Scaglia, Fernando;
Lupski, James R.;
Sau Wai Cheung;
Stankiewicz, Pawel

Publication type:

Article

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.

Published in:

Human Genetics, 2005, v. 117, n. 6, p. 565, doi. 10.1007/s00439-005-1341-9

By:

Leimkühler, Silke;
Charcosset, Mathilde;
Latour, Philippe;
Dorche, Claude;
Kleppe, Soledad;
Scaglia, Fernando;
Szymczak, Irmina;
Schupp, Petra;
Hahnewald, Rita;
Reiss, Jochen

Publication type:

Article

Reply.

Published in:

Annals of Neurology, 2009, v. 65, n. 4, p. 482, doi. 10.1002/ana.21689

By:

Bodamer, Olaf A.;
Scaglia, Fernando

Publication type:

Article

Creatine metabolism in combined methylmalonic aciduria and homocystinuria.

Published in:

Annals of Neurology, 2005, v. 57, n. 4, p. 557

By:

Olaf A. Bodamer;
Trilochan Sahoo;
Arthur L. Beaudet;
William E. O'Brien;
Teodoro Bottiglieri;
Sylvia Stöckler‐Ipsiroglu;
Conrad Wagner;
Fernando Scaglia

Publication type:

Article

Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

Published in:

2001

By:

Inoue, Ken;
Tanaka, Hajime;
Scaglia, Fernando;
Araki, Akiko;
Shaffer, Lisa G.;
Lupski, James R.;
Inoue, K;
Tanaka, H;
Scaglia, F;
Araki, A;
Shaffer, L G;
Lupski, J R

Publication type:

journal article

11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans.

Published in:

2021

By:

Albino, Elinette;
Buxo, Carmen;
Scaglia, Fernando;
Santiago-Cornier, Alberto

Publication type:

Abstract

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

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77

By:

Wiszniewska, Joanna;
Bi, Weimin;
Shaw, Chad;
Stankiewicz, Pawel;
Kang, Sung-Hae L;
Pursley, Amber N;
Lalani, Seema;
Hixson, Patricia;
Gambin, Tomasz;
Tsai, Chun-hui;
Bock, Hans-Georg;
Descartes, Maria;
Probst, Frank J;
Scaglia, Fernando;
Beaudet, Arthur L;
Lupski, James R;
Eng, Christine;
Wai Cheung, Sau;
Bacino, Carlos;
Patel, Ankita

Publication type:

Article

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184

By:

Nagamani, Sandesh C. Sreenath;
Erez, Ayelet;
Bader, Patricia;
Lalani, Seema R.;
Scott, Daryl A.;
Scaglia, Fernando;
Plon, Sharon E.;
Chun-Hui Tsai;
Reimschisel, Tyler;
Roeder, Elizabeth;
Malphrus, Amy D.;
Eng, Patricia A.;
Hixson, Patricia M.;
Kang, Sung-Hae L.;
Stankiewicz, Pawel;
Patel, Ankita;
Sau Wai Cheung

Publication type:

Article