Wright, Matt W.; Thaxton, Courtney L.; Nelson, Tristan; DiStefano, Marina T.; Savatt, Juliann M.; Brush, Matthew H.; Cheung, Gloria; Mandell, Mark E.; Wulf, Bryan; Ward, T. J.; Goehringer, Scott; O'Neill, Terry; Weller, Phil; Preston, Christine G.; Keseler, Ingrid M.; Goldstein, Jennifer L.; Strande, Natasha T.; Mcglaughon, Jennifer; Azzariti, Danielle R.; Cordova, Ineke; Dziadzio, Hannah; Babb, Lawrence; Riehle, Kevin; Milosavljevic, Aleksandar; Martin, Christa Lese; Rehm, Heidi L.; Plon, Sharon E.; Berg, Jonathan S.; Riggs, Erin R.; Klein, Teri E.

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-07-011

OAAI

Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, Andre; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie s.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Feldman, Hagit Baris; Mckee, Shane; Krapels, Ingrid P. C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; Mcconnell, Vivienne; Chassevent, Anna; Baranano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M.

The Brain Gene Registry: a data snapshot

JOURNAL OF NEURODEVELOPMENTAL DISORDERS

IF4

2024-04-170

OAAI

Clinical variants paired with phenotype: A rich resource for brain gene curation

GENETICS IN MEDICINE

IF6.2

2024-03-014

OAAI

Low adenoma burden in unselected patients with a pathogenic APC variant

GENETICS IN MEDICINE

IF6.2

2023-12-011

PRE

Thyroidectomy Outcomes in Patients Identified With RET Pathogenic Variants Through a Population Genomic Screening Program

JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY

IF5.6

2023-03-017

Response to van Riel et al

GENETICS IN MEDICINE

IF6.2

2023-01-011

OAAI

Frequency of truncating FLCN variants and Birt-Hogg-Dube-associated phenotypes in a health care system population

GENETICS IN MEDICINE

IF6.2

2022-09-0112

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

在智力障碍/自闭症测序面板上经常测试的基因的临床有效性评估

GENETICS IN MEDICINE

IF6.2

2022-09-0115

OAAI

Riggs, Erin Rooney; Bingaman, Taylor, I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R.; Dharmadhikari, Avinash, V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R.; Hughes, Madeline Y.; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aime; Mah, Michelle; Maloney, Caitlin M.; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A.; Reble, Emma; Rennie, Olivia; Savatt, Juliann M.; Shimelis, Hermela; Siegert, Rebecca K.; Sneddon, Tam P.; Thaxton, Courtney; Toner, Kelly A.; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H.; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A. S.; Miller, David T.; Schaaf, Christian P.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-07-0115

OAAI

Asif, Maria; Kaygusuz, Emrah; Shinawi, Marwan; Nickelsen, Anna; Hsieh, Tzung-Chien; Wagle, Prerana; Budde, Birgit S.; Hochscherf, Jennifer; Abdullah, Uzma; Honing, Stefan; Nienberg, Christian; Lindenblatt, Dirk; Noegel, Angelika A.; Altmuller, Janine; Thiele, Holger; Motameny, Susanne; Fleischer, Nicole; Segal, Idan; Pais, Lynn; Tinschert, Sigrid; Samra, Nadra Nasser; Savatt, Juliann M.; Rudy, Natasha L.; De Luca, Chiara; Fortugno, Paola; White, Susan M.; Krawitz, Peter; Hurst, Anna C. E.; Niefind, Karsten; Jose, Joachim; Brancati, Francesco; Nurnberg, Peter; Hussain, Muhammad Sajid

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

BMC MEDICINE

IF8.3

2022-06-077

OAAI

Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-04-015

OAAI

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-03-0114

Angelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N.; Ritter, Alyssa L.; Leonard, Jacqueline M. M.; Savatt, Juliann M.; Douglass, Kristen; Myers, Scott M.; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C. E.; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andrew; Crunk, Amy; Tokita, Mari J.; de Lange, Iris M.; van Gassen, Koen; Robinson, Hannah; Guegan, Katie; Suri, Mohnish; Patel, Chirag; Bournez, Marie; Faivre, Laurence; Tran-Mau-Them, Frederic; Baker, Janice; Fabie, Noelle; Weaver, K.; Shillington, Amelle; Hopkin, Robert J.; Barge-Schaapveld, Daniela Q. C. M.; Al Ruivenkamp, Claudia; Bokenkamp, Regina; Vergano, Samantha; Moro, Maria Noelia Seco; de Bustamante, Aranzazu Diaz; Misra, Vinod K.; Kennelly, Kelly; Rogers, Caleb; Friedman, Jennifer; Wigby, Kristen M.; Lenberg, Jerica; Graziano, Claudio; Ahrens-Nicklas, Rebecca C.; Lefebvre, Veronique

Genetic updates returned by GenomeConnect, the ClinGen patient registry: A pilot study of participant experience

GENETICS IN MEDICINE

IF6.2

2022-03-010

Juliann M. Savatt

个人简介

教育背景

工作经历

荣誉奖项

研究方向