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A

Alexander M. Holtz

university of michigan
H指数:10
被引数:478

个人简介

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教育背景

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工作经历

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荣誉奖项

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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
BRAIN
IF11.7
2024-05-161
OA
Harel, Tamar; Spicher, Camille; Scheer, Elisabeth; Buchan, Jillian G.; Cech, Jennifer; Folland, Chiara; Frey, Tanja; Holtz, Alexander M.; Innes, A. Micheil; Keren, Boris; Macken, William L.; Marcelis, Carlo; Otten, Catherine E.; Paolucci, Sarah A.; Petit, Florence; Pfundt, Rolph; Pitceathly, Robert D. S.; Rauch, Anita; Ravenscroft, Gianina; Sanchev, Rani; Steindl, Katharina; Tammer, Femke; Tyndall, Amanda; Devys, Didier; Vincent, Stephane D.; Elpeleg, Orly; Tora, Laszlo
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

ZFX的变异与X连锁神经发育障碍相关，并伴有复发性面部格式塔

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-03-014
OAAI
Shepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renee; Clayton-Smith, Jill; Crawford, Ali; Duno, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Kesh, Leila Amel Riazat; Kury, Sebastien; Lecoquierre, Francois; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Nemeth, Andrea H.; Ostergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms
LIFE SCIENCE ALLIANCE
IF2.9
2024-01-055
OA
Koch, Intisar; Slovik, Maya; Zhang, Yuling; Liu, Bingyu; Rennie, Martin; Konz, Emily; Cogne, Benjamin; Daana, Muhannad; Davids, Laura; Diets, Illja J.; Gold, Nina B.; Holtz, Alexander M.; Isidor, Bertrand; Mor-Shaked, Hagar; Fresneda, Juanita Neira; Niederhoffer, Karen Y.; Nizon, Mathilde; Pfundt, Rolph; Simon, Meh; Stegmann, Apa; Sacoto, Maria J. Guillen; Wevers, Marijke; Barakat, Tahsin Stefan; Yanovsky-Dagan, Shira; Atanassov, Boyko S.; Toth, Rachel; Gao, Chengjiang; Bustos, Francisco; Harel, Tamar
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
NATURE COMMUNICATIONS
IF15.7
2023-07-1110
OAAI
Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natalia; Fueyo, Raquel; Waxman, Elisa; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah; Mark, Paul; Harr, Margaret; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fatima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna C. E.; Thompson, Michelle; Chassevent, Anna; Smith-Hicks, Constance; de la Cruz, Xavier; Holtz, Alexander; Elloumi, Houda Zghal; Hajianpour, M. J. L.; Rieubland, Claudine A.; Braun, Dominique; Banka, Siddharth; Genomic England Res Consortium, M. J.; French, Deborah L. S.; Heller, Elizabeth B.; Saade, Murielle; Song, Hongjun J.; Ming, Guo-li A.; Alkuraya, Fowzan; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martinez-Balbas, Marian; Akizu, Naiara
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
GENETICS IN MEDICINE
IF6.2
2022-10-016
OAAI
Holtz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb; Raby, Benjamin A.

研究方向

暂未获取到该数据
B
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J
Jane Y. Song
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M
Marina Pasca di Magliano
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E
Esha Mathew
H 指数:7论文数:55被引数:803
A
A. Micheil Innes
H 指数:62论文数:269被引数:1.3万
M
María J. Guillen Sacoto
H 指数:27论文数:75被引数:1,915
F
Frédéric Charron
H 指数:39论文数:122被引数:7,960
T
Tamar Harel
H 指数:33论文数:160被引数:5,248
A
Adam Jackson
H 指数:25论文数:105被引数:2,039
S
Siddharth Banka
H 指数:52论文数:252被引数:9,673