Updates in Newborn Screening

by Rajabi, Farrah
Published in Pediatric annals

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

by 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
Published in European journal of human genetics : EJHG

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

by AYASH, JAD, WOODS, RUSSELL L., AKULA, JAMES D., RAJABI, FARRAH, ALWATTAR, BILAL K., ALTSCHWAGER, PABLO, FULTON, ANNE B.
Published in American journal of ophthalmology

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

by Rajabi, Farrah, Rohr, Frances, Wessel, Ann, Martell, Leslie, Dobrowolski, Steven F., Guldberg, Per, Güttler, Flemming, Levy, Harvey L.
Published in Molecular genetics and metabolism

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

by 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, Eng, Charis, Gonzaga-Jauregui, Claudia, Zhang, Bin, Wang, Heng
Published in Human molecular genetics

Confounding factors in identification of disease-resilient individuals

by Rosenblatt, David S, Watkins, David, Rajabi, Farrah, Levy, Harvey L
Published in Nature biotechnology

Hyperphenylalaninemia and the genomic revolution

by Rajabi, Farrah, Levy, Harvey L.
Published in Molecular genetics and metabolism

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

by 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, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T, Isidor, Bertrand
Published in Genetics in medicine

Expansion and Implications of Newborn Screening

by Rajabi, Farrah, Levy, Harvey L.
Published in Current genetic medicine reports

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

by Bhoj, Elizabeth J., Rajabi, Farrah, Baker, Samuel W., Santani, Avni, Tan, Wen-Hann
Published in European journal of medical genetics

Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy

by Hoyek, Sandra, Lin, Lisa Y., Kozek, Lindsay Klofas, Gonzalez, Efren, Rajabi, Farrah, Patel, Nimesh A.
Published in Proceedings - Baylor University. Medical Center

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

by 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.
Published in Pediatric neurology

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

by 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, Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P A, Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H, Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, Lessel, Davor
Published in Genome medicine

New Innovations: Therapies for Genetic Conditions

by Rajabi, Farrah, Picker, Jonathan D.
Published in Current genetic medicine reports

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

by 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
Published in The Journal of pediatrics

Genetic Study in a Cohort of Children With ROHHAD Syndrome

by Iannello, Grazia, Sena, Cecilia, Pais, Lynn, Seaby, Ellie, Sathanayagam, Radha, Ebrahim, Nia, Genetti, Casie, Rajabi, Farrah, Schreiber, John, Sutherland, Jonathan, Turer, Emre, Kurtovic-Kozaric, Amina, Schmitz-Abe, Klaus, Felipe, Dania, Picker, Jonathan, Hirschhorn, Joel N, Agrawal, Pankaj, Thaker, Vidhu V
Published in Journal of the Endocrine Society

OR33-07 ARNT2: A Potential Novel Candidate Gene for Monogenic Obesity in Humans

by Thaker, Vidhu V, Seaby, Eleanor G, Genetti, Casie, Sutherland, Jacob, Ianello, Grazia, Rajabi, Farrah, Schreiber, John M, Doege, Claudia A, Turer, Emre E, Hirschhorn, Joel N, Agrawal, Pankaj B
Published in Journal of the Endocrine Society

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

by 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.

Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy

by Hoyek, Sandra, Lin, Lisa Y., Kozek, Lindsay Klofas, Gonzalez, Efren, Rajabi, Farrah, Patel, Nimesh A.
Published in Baylor University Medical Center Proceedings

Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy

by Hoyek, Sandra, Lin, Lisa Y, Kozek, Lindsay Klofas, Gonzalez, Efren, Rajabi, Farrah, Patel, Nimesh A
Published in Proceedings (Baylor University. Medical Center)