John A. Phillips - Publications, H-index & Citations

John A. Phillips

vanderbilt university

79H指数

417论文数

2.2W被引数

收录论文 101

发表时间

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism 尼森-伊西多尔综合征病例系列研究：MED12L杂合变异伴一例二倍体-三倍体嵌合体的有丝分裂不稳定进一步证据

American Journal of Medical Genetics Part A

IF1.7

2026-01-01

OAAI

Stewart, Russell; Ezell, Kimberly M.; Bell, Deanna S.; Corner, Brian; Mcminn, Ashley; Cogan, Joy D.; Hamid, Rizwan; Rives, Lynette; Phillips, John A.; Paddu, Nina; Srivastava, Gitanjali; Marom, Ronit; Ladha, Farah A.; Soler-alfonso, Claudia; Franciskovich, Rachel; Koziura, Mary; Pruthi, Sumit; Richard, Gabriele; Sheedy, Christina B.; Cassini, Thomas

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses 表型变异及父系遗传的CHD8变异（导致伴有自闭症和巨头症的智力发育障碍）经表观遗传和结构分析确认

Molecular Genetics & Genomic Medicine

IF1.6

2025-12-17

OAAI

Furuta, Yutaka; Ezell, Kimberly M.; Hamid, Rizwan; Cogan, Joy D.; Cassini, Thomas A.; Rives, Lynette; McMinn, Ashley; Shah, Shailee; Peltier, Amanda C.; Layfield, Stephen; Fletcher, Robin S.; Tedder, Matthew L.; Louie, Raymond J.; Lee, Jennifer A.; Kerkhof, Jennifer; Rzasa, Jessica; Sadikovic, Bekim; Al Mamun, Abdullah; Sheehan, Jonathan H.; Moth, Christopher W.; Meiler, Jens; Vawter-lee, Marissa; Mendoza-sengco, Paola Maria; Holzen, Jennifer B.; Pruthi, Sumit; Phillips III, John A.; Tinker, Rory J.

Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models 通过深度临床表型分析和果蝇模型解析SLC6A1基因的表型可变性

Human Genetics and Genomics Advances

IF3.6

2025-10-31

OAAI

Kristy L. Jay; Nikhita Gogate; Paige I. Hall; Kimberly M. Ezell; Jonathan C. Andrews; Sharayu V. Jangam; Hongling Pan; Kelvin Pham; Ryan German; Vanessa Gomez; Emily Jellinek-Russo; Eric Storch; Shinya Yamamoto; Oguz Kanca; Hugo J. Bellen; Herman Dierick; Joy D. Cogan; John A. Phillips; Rizwan Hamid; Thomas Cassini; Lynette Rives; Sumit Pruthi; Hua-Chang Chen; Jennifer E. Posey; Michael F. Wangler

Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades 临床基因检测趋势的特征：一项基于180万患者20年EHR数据的单中心分析

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-05-01

OAAI

Bastarache, L; Tinker, RJ; Schuler, BA; Richter, L; Phillips, JA III; Stead, WW; Hooker, GW; Peterson, JF; Ruderfer, DM

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-11-14

OAAI

Furuta, Yutaka; Tinker, Rory J.; Hamid, Rizwan; Cogan, Joy D.; Ezell, Kimberly M.; Oglesbee, Devin; DeBerardinis, Ralph J.; Phillips, John A.

Catamenial Pancreatitis: A Rare Manifestation of Hereditary Pancreatitis

AMERICAN JOURNAL OF GASTROENTEROLOGY

IF7.6

2024-10-01

PREAI

Seils, Jacob; Ozair, Sumair; Phillips, John; Amann, Stephen

Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome

MOLECULAR AND CELLULAR ENDOCRINOLOGY

IF3.6

2024-08-01

PREAI

Brakta, Soumia; Du, Quansheng; Chorich, Lynn P.; Hawkins, Zoe A.; Sullivan, Megan E.; Ko, Eun Kyung; Kim, Hyung-Goo; Knight, James; Taylor, Hugh S.; Friez, Michael; Phillips, John A.; Layman, Lawrence C.

A review of multiple diagnostic approaches in the Undiagnosed Diseases Network to identify inherited metabolic diseases

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-01

PREAI

Furuta, Yutaka; Tinker, Rory; Hamid, Rizwan; Cogan, Joy; Ezell, Kimberly; Oglesbee, Devin; DeBerardinis, Ralph; Phillips, John

Reanalysis of undiagnosed disease reveals formerly recessive congenital disorder of glycosylation, type Iw due to de novo STT3A variant

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-01

PREAI

Ezell, Kimberly; Furuta, Yutaka; Tinker, Rory; Corner, Brian; Neumann, Serena; Hamid, Rizwan; Cogan, Joy; Capra, Tony; Rinker, David; Epivnick, Eniko; Oglesbee, Devin; Phillips, John

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-04-01

PREAI

Jones, Amy G.; Aquilino, Matilde; Tinker, Rory J.; Duncan, Laura; Jenkins, Zandra; Carvill, Gemma L.; Deward, Stephanie J.; Grange, Dorothy K.; Hajianpour, Mj; Halliday, Benjamin J.; Holder-Espinasse, Muriel; Horvath, Judit; Maitz, Silvia; Nigro, Vincenzo; Morleo, Manuela; Paul, Victoria; Spencer, Careni; Esterhuizen, Alina I.; Polster, Tilman; Spano, Alice; Gomez-Lozano, Ines; Kumar, Abhishek; Poke, Gemma; Phillips, John A.; Underhill, Hunter R.; Gimenez, Gregory; Namba, Takashi; Robertson, Stephen P.

De novo variants in DENND5B cause a neurodevelopmental disorder

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-03-01

OAAI

Scala, Marcello; Tomati, Valeria; Ferla, Matteo; Lena, Mariateresa; Cohen, Julie S.; Fatemi, Ali; Brokamp, Elly; Bican, Anna; Phillips III, John A.; Koziura, Mary E.; Nicouleau, Michael; Rio, Marlene; Siquier, Karine; Boddaert, Nathalie; Musante, Ilaria; Tamburro, Serena; Baldassari, Simona; Iacomino, Michele; Scudieri, Paolo; Rosenfeld, Jill A.; Bellus, Gary; Reed, Sara; Al Saif, Hind; Russo, Rossana Sanchez; Walsh, Matthew B.; Cantagrel, Vincent; Crunk, Amy; Gustincich, Stefano; Ruggiero, Sarah M.; Fitzgerald, Mark P.; Helbig, Ingo; Striano, Pasquale; Severino, Mariasavina; Salpietro, Vincenzo; Pedemonte, Nicoletta; Zara, Federico

Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial

NATURE METABOLISM

IF20.8

2023-09-28

PREAI

Vockley, Jerry; Sondheimer, Neal; Puurunen, Marja; Diaz, George A.; Ginevic, Ilona; Grange, Dorothy K.; Harding, Cary; Northrup, Hope; Phillips III, John A.; Searle, Shawn; Thomas, Janet A.; Zori, Roberto; Denney, William S.; Ernst, Sharon L.; Humphreys, Kristina; McWhorter, Nicole; Kurtz, Caroline; Brennan, Aoife M.

The Genetic Landscape of Familial Pulmonary Fibrosis 家族性肺纤维化的遗传景观

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

IF19.4

2023-05-15

PREAI

Liu, Qi; Zhou, Yuan; Cogan, Joy D.; Mitchell, Daphne B.; Sheng, Quanhu; Zhao, Shilin; Bai, Youhuang; Ciombor, Kristen K.; Sabusap, Carleen M.; Malabanan, M. Merced; Markin, Cheryl R.; Douglas, Katrina; Ding, Guixiao; Banovich, Nicholas E.; Nickerson, Deborah A.; Blue, Elizabeth E.; Bamshad, Michael J.; Brown, Kevin K.; Schwartz, David A.; Phillips, John A., III; Martinez-Barricarte, Ruben; Salisbury, Margaret L.; Shyr, Yu; Loyd, James E.; Kropski, Jonathan A.; Blackwell, Timothy S.

A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male

METABOLITES

IF3.7

2023-03-08

OAAI

DeBalsi, Karen H.; Newman, John J.; Sommerville, Laura A.; Phillips III, John; Hamid, Rizwan; Cogan, Joy P.; Fessel, Joshua M.; Evans, Anne; Kennedy, Adam

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping

HUMAN GENETICS

IF3.6

2023-02-17

PREAI

Brakta, Soumia; Hawkins, Zoe A.; Sahajpal, Nikhil; Seman, Natalie; Kira, Dina; Chorich, Lynn P.; Kim, Hyung-Goo; Xu, Hongyan; Phillips, John A., III; Kolhe, Ravindra; Layman, Lawrence C.

A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay 在患有婴儿肌张力低下和精神运动延迟的患者中，TBCK中复发性单外显子缺失可能被认识不足

HUMAN MUTATION

IF3.7

2022-11-06

OAAI

Dai, Hongzheng; Zhu, Wenmiao; Yuan, Bo; Walley, Nicole; Schoch, Kelly; Jiang, Yong-Hui; Phillips, John A.; Jones, Melissa S.; Liu, Pengfei; Murdock, David R.; Burrage, Lindsay C.; Lee, Brendan; Rosenfeld, Jill A.; Xiao, Rui

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-10-01

OAAI

Mukherjee, Souhrid; Cassini, Thomas A.; Hu, Ningning; Yang, Tao; Li, Bian; Shen, Wangzhen; Moth, Christopher W.; Rinker, David C.; Sheehan, Jonathan H.; Cogan, Joy D.; Newman, John H.; Hamid, Rizwan; Macdonald, Robert L.; Roden, Dan M.; Meiler, Jens; Kuenze, Georg; Phillips, John A.; Capra, John A.

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2022-04-01

OAAI

Schuler, Bryce A.; Nelson, Erica T.; Koziura, Mary; Cogan, Joy D.; Hamid, Rizwan; Phillips, John A., III

Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia

SCIENTIFIC REPORTS

IF3.9

2021-12-20

OAAI

Prickett, Timothy C. R.; Espiner, Eric A.; Irving, Melita; Bacino, Carlos; Phillips, John A., III; Savarirayan, Ravi; Day, Jonathan R. S.; Fisheleva, Elena; Larimore, Kevin; Chan, Ming Liang; Jeha, George S.

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

nature reviews endocrinology

IF40

2021-11-26

OAAI

Savarirayan, Ravi; Ireland, Penny; Irving, Melita; Thompson, Dominic; Alves, Ines; Baratela, Wagner A. R.; Betts, James; Bober, Michael B.; Boero, Silvio; Briddell, Jenna; Campbell, Jeffrey; Campeau, Philippe M.; Carl-Innig, Patricia; Cheung, Moira S.; Cobourne, Martyn; Cormier-Daire, Valerie; Deladure-Molla, Muriel; del Pino, Mariana; Elphick, Heather; Fano, Virginia; Fauroux, Brigitte; Gibbins, Jonathan; Groves, Mari L.; Hagenas, Lars; Hannon, Therese; Hoover-Fong, Julie; Kaisermann, Morrys; Leiva-Gea, Antonio; Llerena, Juan; Mackenzie, William; Martin, Kenneth; Mazzoleni, Fabio; McDonnell, Sharon; Meazzini, Maria Costanza; Milerad, Josef; Mohnike, Klaus; Mortier, Geert R.; Offiah, Amaka; Ozono, Keiichi; Phillips, John A., III; Powell, Steven; Prasad, Yosha; Raggio, Cathleen; Rosselli, Pablo; Rossiter, Judith; Selicorni, Angelo; Sessa, Marco; Theroux, Mary; Thomas, Matthew; Trespedi, Laura; Tunkel, David; Wallis, Colin; Wright, Michael; Yasui, Natsuo; Fredwall, Svein Otto

研究方向