Not logged in Building a growing genomic repository for maternal and fetal health through the PING Consortium Abdelmalek, Clara M.; Singh, Shriya; Fasil, Blain; Horvath, Allison R.; Mulkey, Sarah B.; Cure, Carlos; Campos, Maribel; Cavalcanti, Denise P.; Tong, Van T.; Mercado, Marcela; Daza, Marcela; Benavides, Monica Marcela; Acosta, Jacqueline; Gilboa, Suzanne; Valencia, Diana; Sancken, Christina L.; Newton, Suzanne; Scalabrin, Deolinda M. F.; Mussi-Pinhata, Marisa M.; Vasconcelos, Zilton; Chakhtoura, Nahida; Moye, Jack; Leslie, Elizabeth J.; Bulas, Dorothy; Vezina, Gilbert; Marques, Fernanda J. P.; Leyser, Marcio; Del Campo, Miguel; Vilain, Eric; Debiasi, Roberta L.; Wang, Tongguang; Nath, Avindra; Haydar, Tarik; Muenke, Max; Mansour, Tamer A.; du Plessis, Adre J.; Murray, Jeffrey C.; Cordero, Jose F.; Kousa, Youssef A. Share Save
Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline Montealegre Sanchez, Gina A.; Arrigoni, Lauren E.; Yonts, Alexandra B.; Rubenstein, Kevin B.; Bost, James E.; Wolff, Max T.; Barrix, Mallory C.; Bandettini, W. Patricia; Boateng, Bema; Bulas, Dorothy I.; Burklow, Thomas R.; Carlyle, Kayla P.; Chen, Marcus; Das, Sanchita; Dewar, Robin L.; Dixon, Austin A.; Edu, Maureen A.; Falik, Rachel L.; Geslak, Monika L.; Gierdalski, Marcin; Harahsheh, Ashraf S.; Herbert, Linda J.; Highbarger, Jeroen; Huq, Saira R.; Ko, Arthur; Koumbourlis, Anastassios C.; Lacey, Stephanie R.; Lipton, Andrew J.; Monaghan, Maureen; Ndour, Anta S.; Olivieri, Laura J.; Pillai, Dinesh K.; Rehm, Catherine A.; Sable, Craig A.; Sachdev, Vandana; Thurm, Audrey E.; Truong, Uyen T.; Turkbey, Evrim B.; Vilain, Eric; Weyers, Shera; White, Jacob S.; Williams, Abigail A.; Zember, Jonathan; Liang, C. Jason; Delaney, Meghan; Batshaw, Mark L.; Notarangelo, Luigi D.; Wessel, David L.; Barron, Karyl; Debiasi, Roberta L. Share Save
Fair and Safe Eligibility Criteria for Women's Sport: The Proposed Testing Regime Is Not Justified, Ethical, or Viable Williams, Alun G.; Heffernan, Shane M.; Herbert, Adam J.; Hamilton, Blair R.; Sanchez, Francisco J.; Gollish, Sasha; Rutherford, Adam; Montgomery, Hugh E.; Mcnamee, Mike; Camporesi, Silvia; Ospina-Betancurt, Jonathan; Fife, Niall; Cox, Luke; Holt, Richard I. G.; Pitsiladis, Yannis P.; Malinsky, Fernanda R.; Guppy, Fergus; Pape, Madeleine; Vilain, Eric; Pielke, Roger; Cable, N. Tim; Chantler, Sarah; Phillips, Stuart M.; Stebbings, Georgina K. Share Save
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Differences of Sex Development (DSD) in Central Africa: Genetics, psychosocial adaptation and perceptions Mosema, Kizito; Spencer, D'Andre; Bramble, Matthew; Balali, Esther Likuba; Matondo, Alex Ibanda; Kamate, Kirauli; Katumbay, Desire Tshala; Ngoyi, Dieudonne Mumba; Le Delot, Emmanue; Vilain, Eric Share Save
Multisystem Inflammatory Syndrome of Children: Subphenotypes, Risk Factors, Biomarkers, Cytokine Profiles, and Viral Sequencing DeBiasi, Roberta L.; Harahsheh, Ashraf S.; Srinivasalu, Hemalatha; Krishnan, Anita; Sharron, Matthew P.; Parikh, Kavita; Smith, Karen; Bell, Michael; Michael, Drew; Delaney, Meghan; Campos, Joseph; Vilain, Eric; LoTempio, Jonathan; Kline, Jaclyn N.; Ronis, Tova; Majumdar, Suvankar; Sadler, Eleanor; Conway, Susan R.; Berul, Charles, I; Sule, Sangeeta; Lahoz, Rebeca; Ansusinha, Emily; Pershad, Jay; Bundy, Vanessa; Wells, Elizabeth; Bost, James E.; Wessel, David Share Save
The gut microbiome in konzo Bramble, Matthew S.; Vashist, Neerja; Ko, Arthur; Priya, Sambhawa; Musasa, Celeste; Mathieu, Alban; Spencer, D' Andre; Kasendue, Michel Lupamba; Dilufwasayo, Patrick Mamona; Karume, Kevin; Nsibu, Joanna; Manya, Hans; Uy, Mary N. A.; Colwell, Brian; Boivin, Michael; Mayambu, J. P. Banae; Okitundu, Daniel; Droit, Arnaud; Ngoyi, Dieudonne Mumba; Blekhman, Ran; Tshala-Katumbay, Desire; Vilain, Eric Share Save
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The Neuroanatomy of Transgender Identity: Mega-Analytic Findings From the ENIGMA Transgender Persons Working Group Mueller, Sven C.; Guillamon, Antonio; Zubiaurre-Elorza, Leire; Junque, Carme; Gomez-Gil, Esther; Uribe, Carme; Khorashad, Behzad S.; Khazai, Behnaz; Talaei, Ali; Habel, Ute; Votinov, Mikhail; Derntl, Birgit; Lanzenberger, Rupert; Seiger, Rene; Kranz, Georg S.; Kreukels, Baudewijntje P. C.; Kettenis, Peggy T. Cohen; Burke, Sarah M.; Lambalk, Nils B.; Veltman, Dick J.; Kennis, Mathilde; Sanchez, Francisco J.; Vilain, Eric; Fisher, Alessandra Daphne; Mascalchi, Mario; Gavazzi, Gioele; Orsolini, Stefano; Ristori, Jiska; Dannlowski, Udo; Grotegerd, Dominik; Konrad, Carsten; Schneider, Maiko Abel; T'Sjoen, Guy; Luders, Eileen Share Save
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J. M.; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M.; Banka, Siddharth; Bena, Frederique S.; Ben-Zeev, Bruria; Bonagura, Vincent R.; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G.; Chew, Hui B.; Chrast, Jacqueline; Cimbalistiene, Loreta; Coon, Hilary; Delot, Emmanuelle C.; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A.; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y.; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L.; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A.; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kucinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoe; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoit; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A.; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H.; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B.; Parker, Michael; Petersen, Andrea K.; Pfundt, Rolph; Preiksaitiene, Egle; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A.; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Blok, Lot Snijders; Spillmann, Rebecca C.; Stegmann, Alexander P. A.; Thiffault, Isabelle; Linh Tran; Vaknin-Dembinsky, Adi; Vedovato-dos-Santos, Juliana H.; Vergano, Samantha A. Schrier; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F.; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E.; Vissers, Lisenka E. L. M. Share Save
Motor control and cognition deficits associated with protein carbamoylation in food (cassava) cyanogenic poisoning: Neurodegeneration and genomic perspectives Rwatambuga, F. A.; Ali, E. R.; Bramble, M. S.; Gosschalk, J. E.; Kim, Morris; Yandju, D. L.; Okitundu, L. A.; Boivin, M. J.; Banea, J. P.; Westaway, S. K.; Larry, D.; Vilain, Eric; Ngoyi, D. Mumba; Tshala-Katumbay, D. D. Share Save
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Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States Speiser, Phyllis W.; Chawla, Reeti; Chen, Ming; Diaz-Thomas, Alicia; Finlayson, Courtney; Rutter, Meilan M.; Sandberg, David E.; Shimy, Kim; Talib, Rashida; Cerise, Jane; Vilain, Eric; Delot, Emmanuele C. Share Save
Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings Lee, Sulgi; Kambhampati, Madhuri; Almira-Suarez, M. Isabel; Ho, Cheng-Ying; Panditharatna, Eshini; Berger, Seth, I; Turner, Joyce; Van Mater, David; Kilburn, Lindsay; Packer, Roger J.; Myseros, John S.; Vilain, Eric; Nazarian, Javad; Bornhorst, Miriam Share Save
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations Hughes, Joel J.; Alkhunaizi, Ebba; Kruszka, Paul; Pyle, Louise C.; Grange, Dorothy K.; Berger, Seth I.; Payne, Katelyn K.; Masser-Frye, Diane; Hu, Tommy; Christie, Michelle R.; Clegg, Nancy J.; Everson, Joshua L.; Martinez, Ariel F.; Walsh, Laurence E.; Bedoukian, Emma; Jones, Marilyn C.; Harris, Catharine Jean; Riedhammer, Korbinian M.; Choukair, Daniela; Fechner, Patricia Y.; Rutter, Meilan M.; Hufnagel, Sophia B.; Roifman, Maian; Kletter, Gad B.; Delot, Emmanuele; Vilain, Eric; Lipinski, Robert J.; Vezina, Chad M.; Muenke, Maximilian; Chitayat, David Share Save
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Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum da Silva, Thatiana Evilen; Gomes, Nathalia Lisboa; Lerario, Antonio Marcondes; Keegan, Catherine Elizabeth; Nishi, Mirian Yumi; Carvalho, Filomena Marino; Vilain, Eric; Barseghyan, Hayk; Martinez-Aguayo, Alejandro; Forclaz, Maria Veronica; Papazian, Regina; Pedroso de Paula, Leila Cristina; Costa, Eduardo Correa; Carvalho, Luciani Renata; Lima Jorge, Alexander Augusto; Elias, Felipe Martins; Mitchell, Rod; Frade Costa, Elaine Maria; Mendonca, Berenice Bilharinho; Domenice, Sorahia Share Save
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H. Share Save
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