Michael C. Sierant

Biomarin Pharmaceutical

H指数:10

被引数:1,550

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Benchmarking genetic birth prevalence estimates against newborn screening data

The American Journal of Human Genetics

IF0

2026-04-240

OAAI

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

11,555例先证者的基因组分析鉴定出60个显性先天性心脏病基因

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2025-03-240

Sierant, Michael C.; Jin, Sheng Chih; Bilguvar, Kaya; Morton, Sarah U.; Dong, Weilai; Jiang, Wei; Lu, Ziyu; Li, Boyang; Lopez-Giraldez, Francesc; Tikhonova, Irina; Zeng, Xue; Lu, Qiongshi; Zhang, Junhui; Nelson-Williams, Carol; Knight, James R.; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Sedore, Stanley C.; Gruber, Peter J.; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J. William; King, Eileen; Srivastava, Deepak; Shen, Yufeng; Porter Jr, George A.; Newburger, Jane W.; Seidman, Jonathan G.; Roberts, Amy E.; Yandell, Mark; Yost, H. Joseph; Tristani-Firouzi, Martin; Kim, Richard; Chung, Wendy K.; Gelb, Bruce D.; Seidman, Christine E.; Brueckner, Martina; Lifton, Richard P.

Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations

散发性脑海绵状畸形中的体细胞PIK3CA突变

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2021-09-0959

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (vol 52, pg 1046, 2020)

NATURE GENETICS

IF31.8

2021-01-111

OAAI

Jin, Sheng Chih; Lewis, Sara A.; Bakhtiari, Somayeh; Zeng, Xue; Sierant, Michael C.; Shetty, Sheetal; Nordlie, Sandra M.; Elie, Aureliane; Corbett, Mark A.; Norton, Bethany Y.; van Eyk, Clare L.; Haider, Shozeb; Guida, Brandon S.; Magee, Helen; Liu, James; Pastore, Stephen; Vincent, John B.; Brunstrom-Hernandez, Janice; Papavasileiou, Antigone; Fahey, Michael C.; Berry, Jesia G.; Harper, Kelly; Zhou, Chongchen; Zhang, Junhui; Li, Boyang; Zhao, Hongyu; Heim, Jennifer; Webber, Dani L.; Frank, Mahalia S. B.; Xia, Lei; Xu, Yiran; Zhu, Dengna; Zhang, Bohao; Sheth, Amar H.; Knight, James R.; Castaldi, Christopher; Tikhonova, Irina R.; Lopez-Giraldez, Francesc; Keren, Boris; Whalen, Sandra; Buratti, Julien; Doummar, Diane; Cho, Megan; Retterer, Kyle; Millan, Francisca; Wang, Yangong; Waugh, Jeff L.; Rodan, Lance; Cohen, Julie S.; Fatemi, Ali; Lin, Angela E.; Phillips, John P.; Feyma, Timothy; MacLennan, Suzanna C.; Vaughan, Spencer; Crompton, Kylie E.; Reid, Susan M.; Reddihough, Dinah S.; Shang, Qing; Gao, Chao; Novak, Iona; Badawi, Nadia; Wilson, Yana A.; McIntyre, Sarah J.; Mane, Shrikant M.; Wang, Xiaoyang; Amor, David J.; Zarnescu, Daniela C.; Lu, Qiongshi; Xing, Qinghe; Zhu, Changlian; Bilguvar, Kaya; Padilla-Lopez, Sergio; Lifton, Richard P.; Gecz, Jozef; MacLennan, Alastair H.; Kruer, Michael C.

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

NATURE MEDICINE

IF50

2020-10-19100

OAAI

Jin, Sheng Chih; Dong, Weilai; Kundishora, Adam J.; Panchagnula, Shreyas; Moreno-De-Luca, Andres; Furey, Charuta G.; Allocco, August A.; Walker, Rebecca L.; Nelson-Williams, Carol; Smith, Hannah; Dunbar, Ashley; Conine, Sierra; Lu, Qiongshi; Zeng, Xue; Sierant, Michael C.; Knight, James R.; Sullivan, William; Duy, Phan Q.; DeSpenza, Tyrone; Reeves, Benjamin C.; Karimy, Jason K.; Marlier, Arnaud; Castaldi, Christopher; Tikhonova, Irina R.; Li, Boyang; Pena, Helena Perez; Broach, James R.; Kabachelor, Edith M.; Ssenyonga, Peter; Hehnly, Christine; Ge, Li; Keren, Boris; Timberlake, Andrew T.; Goto, June; Mangano, Francesco T.; Johnston, James M.; Butler, William E.; Warf, Benjamin C.; Smith, Edward R.; Schiff, Steven J.; Limbrick, David D., Jr.; Heuer, Gregory; Jackson, Eric M.; Iskandar, Bermans J.; Mane, Shrikant; Haider, Shozeb; Guclu, Bulent; Bayri, Yasar; Sahin, Yener; Duncan, Charles C.; Apuzzo, Michael L. J.; DiLuna, Michael L.; Hoffman, Ellen J.; Sestan, Nenad; Ment, Laura R.; Alper, Seth L.; Bilguvar, Kaya; Geschwind, Daniel H.; Gunel, Murat; Lifton, Richard P.; Kahle, Kristopher T.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

NATURE GENETICS

IF31.8

2020-09-28105

OAAI

Jin, Sheng Chih; Lewis, Sara A.; Bakhtiari, Somayeh; Zeng, Xue; Sierant, Michael C.; Shetty, Sheetal; Nordlie, Sandra M.; Elie, Aureliane; Corbett, Mark A.; Norton, Bethany Y.; van Eyk, Clare L.; Haider, Shozeb; Guida, Brandon S.; Magee, Helen; Liu, James; Pastore, Stephen; Vincent, John B.; Brunstrom-Hernandez, Janice; Papavasileiou, Antigone; Fahey, Michael C.; Berry, Jesia G.; Harper, Kelly; Zhou, Chongchen; Zhang, Junhui; Li, Boyang; Heim, Jennifer; Webber, Dani L.; Frank, Mahalia S. B.; Xia, Lei; Xu, Yiran; Zhu, Dengna; Zhang, Bohao; Sheth, Amar H.; Knight, James R.; Castaldi, Christopher; Tikhonova, Irina R.; Lopez-Giraldez, Francesc; Keren, Boris; Whalen, Sandra; Buratti, Julien; Doummar, Diane; Cho, Megan; Retterer, Kyle; Millan, Francisca; Wang, Yangong; Waugh, Jeff L.; Rodan, Lance; Cohen, Julie S.; Fatemi, Ali; Lin, Angela E.; Phillips, John P.; Feyma, Timothy; MacLennan, Suzanna C.; Vaughan, Spencer; Crompton, Kylie E.; Reid, Susan M.; Reddihough, Dinah S.; Shang, Qing; Gao, Chao; Novak, Iona; Badawi, Nadia; Wilson, Yana A.; McIntyre, Sarah J.; Mane, Shrikant M.; Wang, Xiaoyang; Amor, David J.; Zarnescu, Daniela C.; Lu, Qiongshi; Xing, Qinghe; Zhu, Changlian; Bilguvar, Kaya; Padilla-Lopez, Sergio; Lifton, Richard P.; Gecz, Jozef; MacLennan, Alastair H.; Kruer, Michael C.

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

NATURE GENETICS

IF31.8

2017-10-09606

OAAI

Jin, Sheng Chih; Homsy, Jason; Zaidi, Samir; Lu, Qiongshi; Morton, Sarah; DePalma, Steven R.; Zeng, Xue; Qi, Hongjian; Chang, Weni; Sierant, Michael C.; Hung, Wei-Chien; Haider, Shozeb; Zhang, Junhui; Knight, James; Bjornson, Robert D.; Castaldi, Christopher; Tikhonoa, Irina R.; Bilguvar, Kaya; Mane, Shrikant M.; Sanders, Stephan J.; Mital, Seema; Russell, Mark W.; Gaynor, J. William; Deanfield, John; Giardini, Alessandro; Porter, George A., Jr.; Srivastava, Deepak; Lo, Cecelia W.; Shen, Yufeng; Watkins, W. Scott; Yandell, Mark; Yost, H. Joseph; Tristani-Firouzi, Martin; Newburger, Jane W.; Roberts, Amy E.; Kim, Richard; Zhao, Hongyu; Kaltman, Jonathan R.; Goldmuntz, Elizabeth; Chung, Wendy K.; Seidman, Jonathan G.; Gelb, Bruce D.; Seidman, Christine E.; Lifton, Richard P.; Brueckner, Martina

Biased, Non-equivalent Gene-Proximal and -Distal Binding Motifs of Orphan Nuclear Receptor TR4 in Primary Human Erythroid Cells

PLOS GENETICS

IF3.7

2014-05-088

OAAI

Developmental transcriptome analysis of human erythropoiesis

HUMAN MOLECULAR GENETICS

IF3.2

2014-04-2945

OAAI

Michael C. Sierant

个人简介

教育背景

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