日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ACMG Medical Directors' Special Interest Group survey: Current challenges for medical genetics clinics

ACMG医学主任特别兴趣小组调查:医学遗传诊所目前面临的挑战

Dulchavsky, Mark; Keegan, Catherine E; Robin, Nathaniel H; Haldeman-Englert, Chad; Dhar, Shweta U; Hisama, Fuki M

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

雄激素介导皮拉罗夫斯基-比约恩松综合征的性二态性

Anderson Kimberley Jade, Thorolfsdottir Eirny Tholl, Nodelman Ilana M, Halldorsdottir Sara Tholl, Benonisdottir Stefania, Alghamdi Malak, Almontashiri Naif, Barry Brenda J, Begemann Matthias, Britton Jacquelyn F, Burke Sarah, Cogne Benjamin, Cohen Ana S A, de Diego Boguñá Carles, Eichler Evan E, Engle Elizabeth C, Fahrner Jill A, Faivre Laurence, Fradin Mélanie, Fuhrmann Nico, Gao Christine W, Garg Gunjan, Grečmalová Dagmar, Grippa Mina, Harris Jacqueline R, Hoekzema Kendra, Hershkovitz Tova, Hubbard Sydney, Janssens Katrien, Jurgens Julie A, Kmoch Stanislav, Knopp Cordula, Koptagel Meral Aktas, Ladha Farah A, Lapunzina Pablo, Lindau Tobias, Meuwissen Marije, Minicucci Andreina, Neuhaus Emily, Nizon Mathilde, Nosková Lenka, Park Kristen, Patel Chirag, Pfundt Rolph, Prasun Pankaj, Rahner Nils, Robin Nathaniel H, Ronspies Carey, Roohi Jasmin, Rosenfeld Jill, Saenz Margarita, Saunders Carol, Stark Zornitza, Thiffault Isabelle, Thull Sarah, Velasco Danita, Velmans Clara, Verseput Jolijn, Vitobello Antonio, Wang Tianyun, Weiss Karin, Wentzensen Ingrid M, Pilarowski Genay, Eysteinsson Thor, Gillentine Madelyn, Stefánsson Kári, Helgason Agnar, Bowman Gregory D, Bjornsson Hans Tomas

Riding the gene therapy wave: challenges and opportunities for rare disease patients and clinicians

驾驭基因治疗浪潮:罕见病患者和临床医生面临的挑战和机遇

Alexander, Matthew S; Robin, Nathaniel H

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

OTOF相关听觉神经病谱系障碍的自然史:一项多中心研究

Thorpe, Ryan K; Azaiez, Hela; Wu, Peina; Wang, Qiuju; Xu, Lei; Dai, Pu; Yang, Tao; Schaefer, G Bradley; Peters, B Robert; Chan, Kenny H; Schatz, Krista S; Bodurtha, Joann; Robin, Nathaniel H; Hirsch, Yoel; Rahbeeni, Zuhair Abdalla; Yuan, Huijun; Smith, Richard J H

Near complete deletion of KMT2D in a college student

大学生体内KMT2D基因几乎完全缺失

Gooch, Catherine; Souder, Jaclyn Paige; Tedder, Matthew L; Kerkhof, Jennifer; Lee, Jennifer A; Louie, Raymond J; Sadikovic, Bekim; Fletcher, Robin S; Robin, Nathaniel H

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

SPEN单倍体不足会导致一种神经发育障碍,该障碍与近端1p36缺失综合征重叠,并在女性中伴有X染色体表观遗传特征。

Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernández-García, Andrés; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J; Monteleone, Berrin; Saunders, Carol J; Jean Cuevas, July K; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L; Monteiro, Fabíola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E; Macke, Erica L; Morava, Eva; Klee, Eric W; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M R; Carter, Melissa T; Kalsner, Louisa; de Vries, Bert B A; van Bon, Bregje W; Wevers, Marijke R; Pfundt, Rolph; Stegmann, Alexander P A; Kerr, Bronwyn; Kingston, Helen M; Chandler, Kate E; Sheehan, Willow; Elias, Abdallah F; Shinde, Deepali N; Towne, Meghan C; Robin, Nathaniel H; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E M; Brooks, Alice S; Gribnau, Joost; Boers, Ruben G; Finestra, Teresa Robert; Carter, Lauren B; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M; Barakat, Tahsin Stefan; Graham, John M Jr; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E L M; Sadikovic, Bekim; Scott, Daryl A; Holder, Jimmy Lloyd Jr; Tartaglia, Marco

Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence

下颌骨牵引成骨术作为治疗婴儿皮埃尔·罗宾综合征的一线干预措施

Soto, Edgar; Ananthasekar, Shivani; Kurapati, Srikanth; Robin, Nathaniel H; Smola, Cassi; Maddox, Mary Halsey; Boyd, Carter J; Myers, René P

Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS)

Stickler综合征(SS):视网膜脱离激光预防(改良的Ora Secunda环扎术,OSC/SS)

Morris, Robert E; Parma, Edward Scott; Robin, Nathaniel H; Sapp, Mathew R; Oltmanns, Matthew H; West, Matthew R; Fletcher, Donald C; Schuchard, Ronald A; Kuhn, Ferenc

Dysmorphology in the Era of Genomic Diagnosis

基因组诊断时代的畸形学

Hurst, Anna C E; Robin, Nathaniel H

A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature

一例具有独特临床表现的17q22-qter染色体三体病例报告及文献回顾

Upadia, Jariya; Philips, Joseph B 3rd; Robin, Nathaniel H; Lose, Edward J; Mikhail, Fady M