Floris C. Hofstede

newyork-presbyterian hospital

H指数:18

被引数:1,294

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Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

五种已知多胺代谢病的遗传和表型特征：一项批判性叙述性综述

American Journal of Medical Genetics Part A

IF1.7

2025-12-010

OAAI

VanSickle, Elizabeth A.; Sarasua, Sara M.; Lowe, Tracy; Farrell, Christopher L.; Boccuto, Luigi; Schwartz, Charles; Pegg, Anthony E.; Peron, Angela; Faundes, Victor; Ganapathi, Mythily; Chung, Wendy K.; Ziegler, Alban; Hofstede, Floris; Prouteau, Clement; Steindl, Katharina; Olson, Colleen; Devinsky, Orrin; Mastracci, Teresa L.; Casero Jr, Robert A.; Stewart, Tracy Murray; Gilmour, Susan; Koerner, Teri; Kutler, Mary Jo; Rajasekaran, Surender; Michael, Julianne; Bachmann, Andre S.; Bupp, Caleb P.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-06-010

OAAI

Kalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

扩大BAF相关疾病的范围: SMARCC2的从头变体导致智力障碍和发育迟缓的综合征

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-01-0163

OAAI

Machol, Keren; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Thi Tuyet Mai Nguyen; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Shashi, Vandana; Jiang, Yong-hui; Stong, Nicholas; Fiala, Elise; Willing, Marcia; Pfundt, Rolph; Kleefstra, Tjitske; Cho, Megan T.; McLaughlin, Heather; Rosello Piera, Monica; Orellana, Carmen; Martinez, Francisco; Caro-Llopis, Alfonso; Monfort, Sandra; Roscioli, Tony; Nixon, Cheng Yee; Buckley, Michael F.; Turner, Anne; Jones, Wendy D.; van Hasseit, Peter M.; Hofstede, Floris C.; van Gassen, Koen L., I; Brooks, Alice S.; van Slegtenhorst, Marjon A.; Lachlan, Katherine; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Sonal, Desai; Sakkubai, Naidu; Thevenon, Julien; Faivre, Laurence; Maurel, Alice; Petrovski, Slave; Krantz, Ian D.; Tarpinian, Jennifer M.; Rosenfeld, Jill A.; Lee, Brendan H.; Campeau, Philippe M.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Davids, Mariska; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dillon, Ani; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Ferreira, Carlos; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Handley, Lori H.; Herzog, Matthew R.; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen M.; Huang, Yong; Jacob, Howard J.; Jain, Mahim; Johnston, Jean M.; Jones, Angela L.; Kohane, Isaac S.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Lalani, Seema R.; Lalani; Lau, C. Christopher; Lazar, Jozef; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Lipson, Allen; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine, V; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martinez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren D. M.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Robertson, Amy K.; Rodan, Lance H.; Sampson, Jacinda B.; Samson, Susan L.; Schoch, Kelly; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Signer, Rebecca; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Splinter, Kimberly; Stoler, Joan M.; Sweetser, David A.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Valivullah, Zaheer M.; Vilain, Eric; Vogel, Tiphanie P.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Ward, Patricia A.; Waters, Katrina M.; Westerfield, Monte; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yu, Guoyun; Zastrow, Diane B.; Zheng, Allison

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-09-0121

PREAI

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2016-03-3134

OAAI

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2016-01-298

OAAI

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

Mudd病 (MAT I/III缺乏症): MAT1A纯合子和复合杂合子的数据调查

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2015-08-2034

OAAI

Chien, Yin-Hsiu; Abdenur, Jose E.; Baronio, Federico; Bannick, Allison Anne; Corrales, Fernando; Couce, Maria; Donner, Markus G.; Ficicioglu, Can; Freehauf, Cynthia; Frithiof, Deborah; Gotway, Garrett; Hirabayashi, Koichi; Hofstede, Floris; Hoganson, George; Hwu, Wuh-Liang; James, Philip; Kim, Sook; Korman, Stanley H.; Lachmann, Robin; Levy, Harvey; Lindner, Martin; Lykopoulou, Lilia; Mayatepek, Ertan; Muntau, Ania; Okano, Yoshiyuki; Raymond, Kimiyo; Rubio-Gozalbo, Estela; Scholl-Buergi, Sabine; Schulze, Andreas; Singh, Rani; Stabler, Sally; Stuy, Mary; Thomas, Janet; Wagner, Conrad; Wilson, William G.; Wortmann, Saskia; Yamamoto, Shigenori; Pao, Maryland; Blom, Henk J.

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

MOLECULAR GENETICS AND METABOLISM

IF3.5

2015-03-018

PREAI

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

13例新的胍基乙酸甲基转移酶缺乏症患者和GAMT基因中19种新型错义变体的功能表征

HUMAN MUTATION

IF3.7

2014-03-0640

PREAI

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

X连锁肌酸转运蛋白缺乏症101男性的表型和基因型

JOURNAL OF MEDICAL GENETICS

IF3.7

2013-05-03114

van de Kamp, J. M.; Betsalel, O. T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Gruenewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.; Hamel, B.; Kleefstra, T.; Yntema, H.; Campistol, J.; Vilaseca, M. A.; Cheillan, D.; D'Hooghe, M.; Diogo, L.; Garcia, P.; Valongo, C.; Fonseca, M.; Frints, S.; Wilcken, B.; von der Haar, S.; Meijers-Heijboer, H. E.; Hofstede, F.; Johnson, D.; Kant, S. G.; Lion-Francois, L.; Pitelet, G.; Longo, N.; Maat-Kievit, J. A.; Monteiro, J. P.; Munnich, A.; Muntau, A. C.; Nassogne, M. C.; Osaka, H.; Ounap, K.; Pinard, J. M.; Quijano-Roy, S.; Poggenburg, I.; Poplawski, N.; Abdul-Rahman, O.; Ribes, A.; Arias, A.; Yaplito-Lee, J.; Schulze, A.; Schwartz, C. E.; Schwenger, S.; Soares, G.; Sznajer, Y.; Valayannopoulos, V.; Van Esch, H.; Waltz, S.; Wamelink, M. M. C.; Pouwels, P. J. W.; Errami, A.; van der Knaap, M. S.; Jakobs, C.; Mancini, G. M.; Salomons, G. S.

Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4), a prospective multi-center cohort study

MOLECULAR GENETICS AND METABOLISM

IF3.5

2013-01-0137

PREAI

Mental health and social functioning in early treated Phenylketonuria: The PKU-COBESO study

MOLECULAR GENETICS AND METABOLISM

IF3.5

2013-01-0134

OAAI

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

ORPHANET JOURNAL OF RARE DISEASES