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J

Jonathan A. Bernstein

stanford university

58H指数
307论文数
1.5W被引数
收录论文 97
发表时间
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling常染色体隐性条件相关的全新变异:病例系列及其对遗传检测和咨询的启示
err2026-09-01
err0
PREAI
errNiehaus, Annie D.; Bonner, Devon E.; Carter, Jennefer; Avello, Kayleigh; Jacob, Natalie; Neu, Matthew B.; Mendez, Rodrigo; Qiao, Wanqiong; Scott, Stuart A.; Levy, Rebecca J.; Mattas, Lauren; Schymick, Jennifer; Van Andel, Michael; Muntoni, Francesco; Mueller, Juliane; Sarkozy, Anna; DiTroia, Stephanie; O'Leary, Melanie; Neale, Ashana; O'Donnell-Luria, Anne; Toro, Camilo; Wolfe, Lynne A.; Martinez-Agosto, Julian A.; Montgomery, Stephen B.; Wheeler, Matthew T.; Bernstein, Jonathan A.; Tise, Christina G.
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Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric SurveillanceMyhre综合征中的精神病性特征:更广泛神经精神监测的证据
err2026-06-10
err0
errOAAI
errMariz Ebuen; Vasudevan Krishnan; Kathleen Irby; Ryan Monsberger; Rob J. Hopkin; Maggie R. Brand; Nora Friedman; Robyn P. Thom; Allan L. Reiss; Claudia Algaze; Jonathan A. Bernstein; Samantha Alexander; Valerie Cormier-Daire; Angela E. Lin; Suha Bachir
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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRNU4-2非编码RNA基因的双等位基因变异导致一种具有独特白质变化的隐性神经发育综合征。
err2026-04-08
err0
errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorderRSF1基因的从头杂合变体是综合征性神经发育障碍的原因
err2026-01-28
err0
errOAAI
errCéline Jost; Tiffany Busa; Daniel Wegner; Marwan Shinawi; Elise Schaefer; Amélie Piton; Caroline Schluth-Bolard; Perrine Charles; Boris Keren; Katharina Mayerhanser; Theresa Brunet; Ulrich Schatz; Jennifer E. Neil; Christopher A. Walsh; Kathleen Sisco; Alexander J. Paul; Chung Lee; Natalie Dykzeul; Devon Bonner; Jonathan A. Bernstein; Erin Sutcliffe; Ingrid M. Wentzensen; Catherine Froehlich; Kaleigh Liebler; Patricia Galvin Parton; Jody Weiss-Burns; Chloé Sagnol; Julian Delanne; Caroline Racine; Christel Thauvin-Robinet; Hana Safraou; Frédéric Tran Mau-Them; Yannis Duffourd; Ange-Line Bruel; Laurence Faivre
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Global disparities in adrenaline access: A World Allergy Organization call for equity in anaphylaxis care肾上腺素获取的全球差异:世界过敏组织对过敏性休克护理公平性的呼吁
err2025-11-27
err0
errOAAI
errMário Morais-Almeida; Bryan L. Martin; Paul J. Turner; Alessandro Fiocchi; Motohiro Ebisawa; Gary Wing-Kin Wong; Ignacio J. Ansotegui; Maryam Ali Al-Nesf Al-Mansouri; Jonathan A. Bernstein; Hiroshi Chantaphakul; Tinatin Chikovani; Mary Beth Fasano; Luz Fonacier; Pedro Giavina-Bianchi; René Maximiliano Gómez; Sandra N. González-Díaz; Elham Hossny; David M. Lang; Hideaki Morita; José Antonio Ortegal Martell
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GREGoR: accelerating genomics for rare diseasesGREGoR:加速罕见病基因组学研究
errNature
IF48.5
err2025-11-12
err0
PREAI
errMoez 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
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“Nobody listened to us for years”: Parents' experiences of provider communication in the diagnostic odyssey“多年来没有人听我们的话”:父母在诊断漫漫长路上对提供者沟通的体验
err2025-11-03
err0
PREAI
errMichelle M. Nguyen; Sevil Mahfoozi; Devon Bonner; Daphne O. Martschenko; Alisha Giri; Charis Tang; Jonathan A. Bernstein; Matthew T. Wheeler; Meghan C. Halley
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A World Allergy Organization (WAO) manifesto for the worldwide approval of biologic therapies for food allergy世界过敏组织(WAO)关于全球批准生物疗法治疗食物过敏的宣言
err2025-09-20
err0
PREAI
errAlessandro Fiocchi; Bryan Martin; Gary Wing-Kin Wong; Motohiro Ebisawa; Lucia Lo Scalzo; Francesca Galletta; Stefania Arasi; Ignacio J. Ansotegui; Maryam Ali Al-Nesf Al-Mansouri; Sandra N. Gónzalez Díaz; Jonathan A. Bernstein; Elham Hossny; Hiroshi Chantaphakul; Luciana K. Tanno; Tinatin Chikovani; David M. Lang; Luz Fonacier; Hideaki Morita; Mary Beth Fasano; José Antonio Ortega-Martell; Pedro Giavina-Bianchi; Nikolaos G. Papadopoulos; R. Maximiliano Gómez; Mário Morais Almeida
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Chronic Urticaria慢性荨麻疹
err2025-07-28
err0
PREAI
errCésar A. Galván; Jonathan A. Bernstein
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Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns蛋白截短变异和SHANK2的缺失与自闭症谱系障碍及其他神经发育问题相关。
err2025-04-30
err0
errOAAI
errSilver, Hailey; Greenberg, Rori; Siper, Paige M.; Zweifach, Jessica; Soufer, Renee; Sahin, Mustafa; Berry-Kravis, Elizabeth; Soorya, Latha Valluripalli; Thurm, Audrey; Bernstein, Jonathan A.; Kolevzon, Alexander; Grice, Dorothy E.; Buxbaum, Joseph D.; Levy, Tess
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Urticaria Voices: Real-World Experience of Patients Living with Chronic Spontaneous Urticaria
err2025-02-28
err0
errOAAI
errWeller, Karsten; Winders, Tonya; Mccarthy, Jessica; Raftery, Tara; Saraswat, Pallavi; Constantinescu, Cristina; Balp, Maria-Magdalena; Bernstein, Jonathan A.
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The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones
err2024-10-01
err0
PREAI
errMulvihill, John J.; Findley, Laura; Ni, Weihong; Sinsheimer, Janet S.; Cole, F. Session; Esteves, Cecilia; Bernstein, Jonathan A.; Newman, John H.; Wheeler, Matthew T.; Mokry, Jill R.
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Impact of genome build on RNA-seq interpretation and diagnostics
err2024-07-01
err2
errOAAI
errUngar, Rachel A.; Goddard, Page C.; Jensen, Tanner D.; Degalez, Fabien; Smith, Kevin S.; Jin, Christopher A.; Bonner, Devon E.; Bernstein, Jonathan A.; Wheeler, Matthew T.; Montgomery, Stephen B.
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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
err2024-05-23
err12
errOAAI
errRael, Victoria E.; Yano, Julian A.; Huizar, John P.; Slayden, Leianna C.; Weiss, Madeleine A.; Turcotte, Elizabeth A.; Terry, Jacob M.; Zuo, Wenqi; Thiffault, Isabelle; Pastinen, Tomi; Farrow, Emily G.; Jenkins, Janda L.; Becker, Mara L.; Wong, Stephen C.; Stevens, Anne M.; Otten, Catherine; Allenspach, Eric J.; Bonner, Devon E.; Bernstein, Jonathan A.; Wheeler, Matthew T.; Saxton, Robert A.; Liu, Bo; Majer, Olivia; Barton, Gregory M.
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Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndromePhelan-McDermid综合征癫痫发作的临床、遗传和认知相关性
err2024-05-10
err0
errOAAI
errLevy, Tess; Gluckman, Jacob; Siper, Paige M.; Halpern, Danielle; Zweifach, Jessica; Filip-Dhima, Rajna; Holder Jr, J. Lloyd; Trelles, M. Pilar; Johnson, Kristina; Bernstein, Jonathan A.; Berry-Kravis, Elizabeth; Powell, Craig M.; Soorya, Latha Valluripalli; Thurm, Audrey; Buxbaum, Joseph D.; Sahin, Mustafa; Kolevzon, Alexander; Srivastava, Siddharth
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Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease
errHEART
IF4.4
err2023-12-26
err1
PREAI
errDelwarde, Constance; Toquet, Claire; Boureau, Anne Sophie; Le Ruz, Robin; Le Scouarnec, Solena; Merot, Jean; Kyndt, Florence; Bernstein, Daniel; Bernstein, Jonathan A.; Aalberts, Jan J. J.; Le Marec, Herve; Schott, Jean-Jacques; Roussel, Jean-Christian; Le Tourneau, Thierry; Capoulade, Romain
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