Emmanuèle C. Délot - Publications, H-index & Citations

Emmanuèle C. Délot

University of California

29H指数

99论文数

3.1K被引数

收录论文 25

发表时间

Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD)利用长读长测序弥合性发育差异（DSD）中的诊断与公平差距

The Journal of Clinical Endocrinology and Metabolism

IF0

2026-09-23

OAAI

Emmanuèle C Délot⁠; Eric Vilain⁠

Response to Spurdle et al 对Spurdle等人的回应

Genetics in Medicine

IF6.2

2026-01-06

PREAI

Seth I. Berger; Georgia Pitsava; Changrui Xiao; Emmanuèle C. Délot; Eric Vilain

GREGoR: accelerating genomics for rare diseases GREGoR：加速罕见病基因组学研究

Nature

IF48.5

2025-11-12

PREAI

Moez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery

Genome sequencing reveals the impact of pseudoexons in rare genetic disease 基因组测序揭示了假外显子对罕见遗传病的影响

Genetics in Medicine

IF6.2

2025-09-06

OAAI

Georgia Pitsava; Megan Hawley; Light Auriga; Ivan de Dios; Arthur Ko; Sofia Marmolejos; Miguel Almalvez; Ingrid Chen; Kaylee Scozzaro; Jianhua Zhao; Rebekah Barrick; Nicholas Ah Mew; Vincent A. Fusaro; Jonathan LoTempio; Matthew Taylor; Luisa Mestroni; Sharon Graw; Dianna Milewicz; Dongchuan Guo; David R. Murdock; Kinga M. Bujakowska; Changrui Xiao; Emmanuèle C. Délot; Seth I. Berger; Eric Vilain

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection 推进长读纳米孔基因组组装和精确变异呼吁罕见疾病检测

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-02-01

PREAI

Negi, Shloka; Stenton, Sarah L.; Berger, Seth I.; Canigiula, Paolo; Mcnulty, Brandy; Violich, Ivo; Gardner, Joshua; Hillaker, Todd; O'Rourke, Sara M.; O'Leary, Melanie C.; Carbonell, Elizabeth; Austin-Tse, Christina; Lemire, Gabrielle; Serrano, Jillian; Mangilog, Brian; Vannoy, Grace; Kolmogorov, Mikhail; Vilain, Eric; O'Donnell-Luria, Anne; Delot, Emmanuele; Miga, Karen H.; Monlong, Jean; Paten, Benedict

Technical considerations for placental tissue processing and the subsequent impact on genome-wide DNA methylation analysis

CLINICAL EPIGENETICS

IF4.4

2024-09-16

OAAI

Kocher, Kristen M.; Ngwa, Julius; Kapse, Kushal J.; Bhattacharya, Surajit; Rossi, Christopher; Delot, Emmanuele; duPlessis, Adre; Limperopoulos, Catherine; Andescavage, Nickie

Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development

BIOLOGY OF SEX DIFFERENCES

IF5.1

2024-03-22

OAAI

Parivesh, Abhinav; Delot, Emmanuele; Reyes, Alejandra; Ryan, Janelle; Bhattacharya, Surajit; Harley, Vincent; Vilain, Eric

Beyond the exome: What's next in diagnostic testing for Mendelian conditions

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-08-01

OAAI

Wojcik, Monica H.; Reuter, Chloe M.; Marwaha, Shruti; Mahmoud, Medhat; Duyzend, Michael H.; Barseghyan, Hayk; Yuan, Bo; Boone, Philip M.; Groopman, Emily E.; Delot, Emmanuele C.; Jain, Deepti; Starita, Lea M.; Talkowski, Michael; Montgomery, Stephen B.; Bamshad, MichaelJ.; Chong, Jessica X.; Wheeler, Matthew T.; Berger, Seth I.; O'Donnell-Luria, Anne; Sedlazeck, Fritz J.; Miller, Danny E.; Sanchis-Juan, A.

Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant

JOURNAL OF THE ENDOCRINE SOCIETY

IF3.1

2022-08-12

OAAI

Flippo, Chelsi; Kolli, Vipula; Andrew, Melissa; Berger, Seth; Bhatti, Tricia; Boyce, Alison M.; Casella, Daniel; Collins, Michael T.; Delot, Emmanuele; Devaney, Joseph; Hewitt, Stephen M.; Kolon, Thomas; Mallappa, Ashwini; White, Perrin C.; Merke, Deborah P.; Dauber, Andrew

Towards improved genetic diagnosis of human differences of sex development

NATURE REVIEWS GENETICS

IF52

2021-06-03

OAAI

Delot, Emmanuele C.; Vilain, Eric

nanotatoR: a tool for enhanced annotation of genomic structural variants

BMC GENOMICS

IF3.7

2021-01-06

OAAI

Bhattacharya, Surajit; Barseghyan, Hayk; Delot, Emmanuele C.; Vilain, Eric

Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States 新生儿筛查方案和先天性肾上腺皮质增生的阳性预测值在美国各地各不相同

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2020-05-08

OAAI

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.

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-01-01

OAAI

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

New technologies to uncover the molecular basis of disorders of sex development

MOLECULAR AND CELLULAR ENDOCRINOLOGY

IF3.6

2018-06-01

OAAI

Barseghyan, Hayk; Delot, Emmanuele C.; Vilain, Eric

Identification of novel candidate genes for 46, XY disorders of sex development (DSD) using a C57BL/6J-YPOS mouse model 使用C57BL/6j-ybos小鼠模型鉴定46，XY性发育障碍 (DSD) 的新候选基因

BIOLOGY OF SEX DIFFERENCES

IF5.1

2018-01-30

OAAI

Barseghyan, Hayk; Symon, Aleisha; Zadikyan, Mariam; Almalvez, Miguel; Segura, Eva E.; Eskin, Ascia; Bramble, Matthew S.; Arboleda, Valerie A.; Baxter, Ruth; Nelson, Stanley F.; Delot, Emmanuele C.; Harley, Vincent; Vilain, Eric

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

GENOME MEDICINE

IF11.2

2017-10-25

OAAI

Barseghyan, Hayk; Tang, Wilson; Wang, Richard T.; Almalvez, Miguel; Segura, Eva; Bramble, Matthew S.; Lipson, Allen; Douine, Emilie D.; Lee, Hane; Delot, Emmanuele C.; Nelson, Stanley F.; Vilain, Eric

Exome Sequencing for the Diagnosis of 46, XY Disorders of Sex Development

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2015-02-01

162

OAAI

Baxter, Ruth M.; Arboleda, Valerie A.; Lee, Hane; Barseghyan, Hayk; Adam, Margaret P.; Fechner, Patricia Y.; Bargman, Renee; Keegan, Catherine; Travers, Sharon; Schelley, Susan; Hudgins, Louanne; Mathew, Revi P.; Stalker, Heather J.; Zori, Roberto; Gordon, Ora K.; Ramos-Platt, Leigh; Pawlikowska-Haddal, Anna; Eskin, Ascia; Nelson, Stanley F.; Delot, Emmanuele; Vilain, Eric

Regulation of Sex Determination in Mice by a Non-coding Genomic Region

GENETICS

IF5.1

2014-07-01

OAAI

Arboleda, Valerie A.; Fleming, Alice; Barseghyan, Hayk; Delot, Emmanuele; Sinsheimer, Janet S.; Vilain, Eric

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

NATURE GENETICS

IF31.8

2012-05-27

141

OAAI

Arboleda, Valerie A.; Lee, Hane; Parnaik, Rahul; Fleming, Alice; Banerjee, Abhik; Ferraz-de-Souza, Bruno; Delot, Emmanuele C.; Rodriguez-Fernandez, Imilce A.; Braslavsky, Debora; Bergada, Ignacio; Dell'Angelica, Esteban C.; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Achermann, John C.; Vilain, Eric

Differential perturbation of the Fgf/Erk1/2 and Shh pathways in the C57BL/6N and SWV embryonic limb buds after mid-gestational cadmium chloride administration

MOLECULAR GENETICS AND METABOLISM

IF3.5

2007-11-01

PREAI

Elsaid, Ahmed F.; Delot, Emmanuele C.; Collins, Michael D.

研究方向