Ramos, Michelle A.; Bonini, Katherine E.; Scarimbolo, Laura; Kelly, Nicole R.; Insel, Beverly; Suckiel, Sabrina A.; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M.; Lopez, Jessenia; Aguiniga, Karla Lopez; Marathe, Priya N.; Maria, Estefany; Odgis, Jacqueline A.; Rodriguez, Jessica E.; Rodriguez, Michelle A.; Ruiz, Nairovylex; Sebastin, Monisha; Yelton, Nicole M.; Cunningham-Rundles, Charlotte; Gertner, Melvin; Laguerre, Irma; McDonald, Thomas, V; McGoldrick, Patricia E.; Robinson, Mimsie; Rubinstein, Arye; Shulman, Lisa H.; Williams, Trinisha; Wolf, Steven M.; Yozawitz, Elissa G.; Zinberg, Randi E.; Abul-Husn, Noura S.; Bauman, Laurie J.; Diaz, George A.; Ferket, Bart S.; Greally, John M.; Jobanputra, Vaidehi; Gelb, Bruce D.; Kenny, Eimear E.; Wasserstein, Melissa P.; Horowitz, Carol R.

Clinical Impact of Telomere Length Testing for Interstitial Lung Disease

CHEST

IF8.6

2024-11-011

PRE

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

GENETICS IN MEDICINE

IF6.2

2024-03-019

PRE

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能异常导致具有重叠特征的神经发育障碍

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2024-01-026

OAAI

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

GENETICS IN MEDICINE

IF6.2

2023-12-0136

OAAI

Rehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana

Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease

CIRCULATION-GENOMIC AND PRECISION MEDICINE

IF5.5

2023-10-016

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

GENETICS IN MEDICINE

IF6.2

2023-09-0115

OAAI

Abul-Husn, Noura S.; Marathe, Priya N.; Kelly, Nicole R.; Bonini, Katherine E.; Sebastin, Monisha; Odgis, Jacqueline A.; Abhyankar, Avinash; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M.; Guha, Saurav; Ioele, Nicolette; Okur, Volkan; Ramos, Michelle A.; Rodriguez, Jessica E.; Rehman, Atteeq U.; Thomas-Wilson, Amanda; Edelmann, Lisa; Zinberg, Randi E.; Diaz, George A.; Greally, John M.; Jobanputra, Vaidehi; Suckiel, Sabrina A.; Horowitz, Carol R.; Wasserstein, Melissa P.; Kenny, Eimear E.; Gelh, Bruce D.

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

KIDNEY INTERNATIONAL REPORTS

IF5.7

2023-08-012

OAAI

Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study

CIRCULATION-GENOMIC AND PRECISION MEDICINE

IF5.5

2023-04-0118

Griffin, Emily L.; Nees, Shannon N.; Morton, Sarah U.; Wynn, Julia; Patel, Nihir; Jobanputra, Vaidehi; Robinson, Scott; Kochav, Stephanie M.; Tao, Alice; Andrews, Carli; Cross, Nancy; Geva, Judith; Lanzilotta, Kristen; Ritter, Alyssa; Taillie, Eileen; Thompson, Alexandra; Meyer, Chris; Akers, Rachel; King, Eileen C.; Cnota, James F.; Kim, Richard W.; Porter Jr, George A.; Brueckner, Martina; Seidman, Christine E.; Shen, Yufeng; Gelb, Bruce D.; Goldmuntz, Elizabeth; Newburger, Jane W.; Roberts, Amy E.; Chung, Wendy K.

Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease

CIRCULATION-GENOMIC AND PRECISION MEDICINE

IF5.5

2023-04-012