Pesquisa | Biblioteca Virtual em Saúde

1.

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Liu, Zhigang; Xin, Baozhong; Smith, Iris N; Sency, Valerie; Szekely, Julia; Alkelai, Anna; Shuldiner, Alan; Efthymiou, Stephanie; Rajabi, Farrah; Coury, Stephanie; Brownstein, Catherine A; Rudnik-Schöneborn, Sabine; Bruel, Ange-Line; Thevenon, Julien; Zeidler, Shimriet; Jayakar, Parul; Schmidt, Axel; Cremer, Kirsten; Engels, Hartmut; Peters, Sophia O; Zaki, Maha S; Duan, Ruizhi; Zhu, Changlian; Xu, Yiran; Gao, Chao; Sepulveda-Morales, Tania; Maroofian, Reza; Alkhawaja, Issam A; Khawaja, Mariam; Alhalasah, Hunaida; Houlden, Henry; Madden, Jill A; Turchetti, Valentina; Marafi, Dana; Agrawal, Pankaj B; Schatz, Ulrich; Rotenberg, Ari; Rotenberg, Joshua; Mancini, Grazia M S; Bakhtiari, Somayeh; Kruer, Michael; Thiffault, Isabelle; Hirsch, Steffen; Hempel, Maja; Stühn, Lara G; Haack, Tobias B; Posey, Jennifer E; Lupski, James R; Lee, Hyunpil; Sarn, Nicholas B.

Hum Mol Genet ; 32(20): 2981-2995, 2023 Oct 04.

Artigo em Inglês | MEDLINE | ID: mdl-37531237

2.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Küry, Sébastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M; Josiah, Sunday S; Kiziltug, Emre; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Kundishora, Adam J; Hao, Le T; Li, Hong; Stevenson, Roger E; Louie, Raymond J; Deb, Wallid; Torti, Erin; Vignard, Virginie; McWalter, Kirsty; Raymond, F Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie A; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Õunap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M; Barr, Eileen E; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G; Monaghan, Kristin G; Rio, Marlène; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K; Wilson, Ashley; Quinquis, Delphine; Bréhéret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine M; Berger, Sara M.

Genet Med ; 24(9): 1941-1951, 2022 09.

Artigo em Inglês | MEDLINE | ID: mdl-35678782

3.

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.

Rajabi, Farrah; Rohr, Frances; Wessel, Ann; Martell, Leslie; Dobrowolski, Steven F; Guldberg, Per; Güttler, Flemming; Levy, Harvey L.

Mol Genet Metab ; 128(4): 415-421, 2019 12.

Artigo em Inglês | MEDLINE | ID: mdl-31623983

4.

Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox.

Gold, Nina B; Blumenthal, Jennifer A; Wessel, Ann E; Stein, Deborah R; Scott, Adam; Fox, Victor L; Turner, Amy; Kritzer, Amy; Rajabi, Farrah; Peeler, Katherine; Tan, Wen-Hann.

J Pediatr ; 198: 313-316, 2018 07.

Artigo em Inglês | MEDLINE | ID: mdl-29681447

5.

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

Rodan, Lance H; Anyane-Yeboa, Kwame; Chong, Karen; Klein Wassink-Ruiter, Jolien S; Wilson, Ashley; Smith, Lacey; Kothare, Sanjeev V; Rajabi, Farrah; Blaser, Susan; Ni, Min; DeBerardinis, Ralph J; Poduri, Annapurna; Berry, Gerard T.

Am J Med Genet A ; 176(12): 2554-2560, 2018 12.

Artigo em Inglês | MEDLINE | ID: mdl-30475435

6.

Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension.

Chiou, Carolina A; Rajabi, Farrah; Fulton, Anne B; Acsadi, Gyula; Waitzman, David M; Gaier, Eric D.

J Neuroophthalmol ; 2022 Oct 18.

Artigo em Inglês | MEDLINE | ID: mdl-36255095

7.

Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes.

Ayash, Jad; Woods, Russell L; Akula, James D; Rajabi, Farrah; Alwattar, Bilal K; Altschwager, Pablo; Fulton, Anne B.

Am J Ophthalmol ; 263: 168-178, 2024 Mar 10.

Artigo em Inglês | MEDLINE | ID: mdl-38461945

8.

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.

Li, Qifei; Agrawal, Rohan; Schmitz-Abe, Klaus; Genetti, Casie A; Fernandes, Melissa A; Fryou, Noah L; Madden, Jill A; Brownstein, Catherine A; Smith, Edward C; Rajabi, Farrah; Beggs, Alan H; Agrawal, Pankaj B.

Eur J Hum Genet ; 31(6): 712-715, 2023 06.

Artigo em Inglês | MEDLINE | ID: mdl-36690831

9.

A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.

Elhusseiny, Abdelrahman M; Jabroun, Mireille; Rajabi, Farrah; Gonzalez, Efren; Alkharashi, Maan.

Eur J Ophthalmol ; 32(6): NP6-NP9, 2022 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-34151585

10.

Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy.

Hoyek, Sandra; Lin, Lisa Y; Kozek, Lindsay Klofas; Gonzalez, Efren; Rajabi, Farrah; Patel, Nimesh A.

Proc (Bayl Univ Med Cent) ; 35(4): 562-564, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-35754583

11.

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

Steele, Jacqueline L; Morrow, Michelle M; Sarnat, Harvey B; Alkhunaizi, Ebba; Brandt, Tracy; Chitayat, David A; DeFilippo, Colette P; Douglas, Ganka V; Dubbs, Holly A; Elloumi, Houda Zghal; Glassford, Megan R; Hannibal, Mark C; Héron, Bénédicte; Kim, Linda E; Marco, Elysa J; Mignot, Cyril; Monaghan, Kristin G; Myers, Kenneth A; Parikh, Sumit; Quinonez, Shane C; Rajabi, Farrah; Shankar, Suma P; Shinawi, Marwan S; van de Kamp, Jiddeke J P; Veerapandiyan, Aravindhan; Waldman, Amy T; Graf, William D.

Pediatr Neurol ; 126: 65-73, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34740135

12.

Graves' disease in a five-month-old boy with an unusual treatment course.

Azova, Svetlana; Rajabi, Farrah; Modi, Biren P; Mansfield, Laura; Jonas, Maureen M; Drobysheva, Anastasia; Boyd, Theonia K; Wassner, Ari J; Smith, Jessica R.

J Pediatr Endocrinol Metab ; 34(3): 401-406, 2021 Mar 26.

Artigo em Inglês | MEDLINE | ID: mdl-33675208

13.

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.

Appelhof, Bart; Wagner, Matias; Hoefele, Julia; Heinze, Anja; Roser, Timo; Koch-Hogrebe, Margarete; Roosendaal, Stefan D; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Torti, Erin; Houlden, Henry; Maroofian, Reza; Rajabi, Farrah; Sticht, Heinrich; Baas, Frank; Wieczorek, Dagmar; Jamra, Rami Abou.

Eur J Hum Genet ; 29(3): 411-421, 2021 03.

Artigo em Inglês | MEDLINE | ID: mdl-33168985

14.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; Estes, Caroline; Fleischer, Julie; Groepper, Daniel; Haaxma, Charlotte A; Hempel, Maja; Holler-Managan, Yolanda; Houge, Gunnar; Jackson, Adam; Kellogg, Laura; Keren, Boris; Kiraly-Borri, Catherine; Kraus, Cornelia; Kubisch, Christian; Le Guyader, Gwenael; Ljungblad, Ulf W; Brenman, Leslie Manace; Martinez-Agosto, Julian A; Might, Matthew; Miller, David T; Minks, Kelly Q; Moghaddam, Billur; Nava, Caroline; Nelson, Stanley F; Parant, John M; Prescott, Trine; Rajabi, Farrah; Randrianaivo, Hanitra; Reiter, Simone F; Schuurs-Hoeijmakers, Janneke; Shieh, Perry B.

Genome Med ; 13(1): 90, 2021 05 21.

Artigo em Inglês | MEDLINE | ID: mdl-34020708

15.

Hyperphenylalaninemia and the genomic revolution.

Rajabi, Farrah; Levy, Harvey L.

Mol Genet Metab ; 114(3): 380-1, 2015 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25549965

16.

Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci.

Bhoj, Elizabeth J; Rajabi, Farrah; Baker, Samuel W; Santani, Avni; Tan, Wen-Hann.

Eur J Med Genet ; 63(6): 103903, 2020 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-32169557

17.

Updates in Newborn Screening.

Rajabi, Farrah.

Pediatr Ann ; 47(5): e187-e190, 2018 May 01.

Artigo em Inglês | MEDLINE | ID: mdl-29750285

18.

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

Rajabi, Farrah; Rodan, Lance H; Jonas, Maureen M; Soul, Janet S; Ullrich, Nicole J; Wessel, Ann; Waisbren, Susan E; Tan, Wen-Hann; Berry, Gerard T.

JIMD Rep ; 40: 17-22, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-28887792

19.

Confounding factors in identification of disease-resilient individuals.

Rosenblatt, David S; Watkins, David; Rajabi, Farrah; Levy, Harvey L.

Nat Biotechnol ; 34(11): 1103-1104, 2016 11 08.

Artigo em Inglês | MEDLINE | ID: mdl-27824855

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