Meet Our Team
Clinical Faculty
Clinical Staff
Jennifer Cedeno, M.S.
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詹妮弗·塞德诺在约翰·霍普金斯大学做了10多年的基因助理. Jen was the first Genetic Counselor Assistant at Johns Hopkins and paved the way for the additional GCA positions over the last few years. 她职业生涯的第一部分是在DNA诊断实验室度过的, 大学的临床基因检测实验室. 在这个职位上干了10年, Jen transitioned into a clinical role within the Institute of Genetic Medicine where she works with eight genetic counselors and twelve medical geneticists. Jen在迈阿密大学获得生物学和海洋科学双学位,辅修化学, 获得约翰霍普金斯大学环境科学与政策硕士学位.
Callie Ferguson, M.S., R.D., L.D.N., C.N.S.C.
- Callie Betman is a Registered Dietitian with the Johns Hopkins 遗传医学系 where she provides medical nutrition therapy to pediatric and adult patients with inborn errors of metabolism. She holds a Bachelor’s Degree from James Madison University with a major in dietetics and a Masters Degree in dietetics from Louisiana Tech University. 她也是国家委员会认证的营养支持专家.
Catherine Kashmer, P.A.
- 凯瑟琳·卡什默(Catherine Kashmer)是约翰·霍普金斯大学遗传医学系的医师助理.
Celide Koerner, M.S., R.N.
- Celide Barnes Koerner is a senior research nurse and program coordinator with the Johns Hopkins 遗传医学系, 拥有超过35年治疗儿童和成人先天性代谢异常的临床经验. 她拥有塔夫茨大学营养学硕士学位, 并在弗朗西丝·斯特恩营养中心实习. 后来,她在约翰霍普金斯大学获得了护理学学士学位. 她的研究领域是母体苯丙酮尿症.
- Martino T, Koerner C杨建军,杨建军,李建军,李建军. 母体高苯丙氨酸血症:代谢控制的快速实现预示着整个妊娠期的总体控制.
Kira Lurman, R.N.
- Kira Lurman是格林伯格骨骼发育不良中心的临床和研究护士. Read more about Kira.
Angela Pipitone, R.D, L.D.N., C.N.S.C.
- Angela Pipitone Dempsey是约翰霍普金斯大学遗传医学系的注册营养师, 专门从事先天性代谢错误的医学营养治疗. 她持有the University of Delaware的学士学位,主修营养学,辅修心理学. She went on to complete her dietetic internship with a clinical focus at Johns Hopkins Bayview Medical Center in Baltimore, Maryland. 她在营养支持方面获得了董事会认证, an active member of Genetic Metabolic Dietitians International and serves as a medical advisor for Homocystinuria Network America.
- Kim AY, Hughes JJ, Pipitone Dempsey A, et al. 遗传性果糖不耐受诊断的陷阱.
- Pipitone A, 何俊杰,金·艾,古奈·艾贡,M. 1型瓜氨酸血症的复合l -精氨酸与婴儿体重快速增加有关.
- Pipitone A, Raval D, Duis, J, Vernon H, Martin R, Hamosh A, Valle D和Gunay-Aygun M. 3-羟基-3-甲基戊二酰辅酶a裂解酶缺乏症的妊娠和分娩管理.
Genetic Counselors
Carolyn Applegate, M.G.C., C.G.C.
- Carolyn Applegate is the Genetic Counselor Manager at the McKusick-Nathans Institute and 遗传医学系 at Johns Hopkins. Carolyn has over ten years of clinical experience providing genetic counseling in general genetics clinics as well as specialty clinics including Epigenetics and Chromatin disorders, 端粒缩短疾病, hematologic malignancies, and retinal disorders. 她还为孟德尔基因组学中心注册的个人和家庭提供同意和返回结果, 一个旨在发现孟德尔特征和条件的遗传基础的研究项目. 除了为医学领域的学生提供临床监督外, 她创建并继续在第一个遗传助理在线证书课程中教授学生. 卡洛琳还支持制定法律,为马里兰州的遗传咨询师颁发执照. 她是美国遗传咨询委员会的外交官, 国家遗传顾问协会的董事会成员, 也是马里兰州遗传咨询师协会的创始成员之一.
- Fiallos K, Applegate C, Mathews DJH, Bollinger J, Bergner AL, James CA. 790个孟德尔病家族成员的一级和二级基因组研究结果返回选择.
- Berrios C, James CA, Raraigh K, Bollinger J, Murray B, Tichnell C, Applegate CD, Bergner AL. Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.
- Alder JK, Hanumanthu VS, Strong MA, DeZern AE,等. 端粒长度测试在医院的诊断效用.
Jacquelyn Britton, M.G.C., C.G.C.
- 杰奎琳·布里顿是约翰·霍普金斯大学的认证遗传咨询师. 她是表观遗传学的主要遗传顾问 & Chromatin clinic, 评估和照顾孟德尔表观遗传机制障碍(如歌舞伎综合征)患者的机构, Sotos syndrome, and others), 以及患有“经典”表观遗传疾病(如贝克威斯-魏德曼综合征)的患者, Prader-Willi syndrome, and others). 杰基曾与许多患有这些综合症的患者和家庭合作过, 提供有关基因检测和结果的信息和支持, features of the condition, 以及复发风险和生殖检测的选择. She enjoys seeing patients come back to clinic over the years and hopes to help families continually adapt to new and changing circumstances. 杰基也是一个繁忙的遗传学住院服务的主要遗传咨询师, 参与新生儿重症监护病房住院患者的评估, Pediatric ICU, 以及其他儿科和成人单位. She obtained a Bachelor of Science in Biology with concentration in Cellular and Molecular Biology from Loyola College in Maryland, 随后于2009年获得马里兰大学医学院遗传咨询硕士学位. 在2014年回到巴尔的摩之前, 杰基为儿科不同的患者群体提供遗传咨询, prenatal, 以及宾夕法尼亚州和路易斯安那州的癌症诊所.
- Peroutka C, Salas J, Britton JF, Bishop J, Kratz L, Gilmore MM, Fahrner JA, Golden WC, Wang T. Severe neonatal manifestations of infantile liver failure syndrome type 1 caused by cytosolic leucine-tRNA synthetase deficiency.
- Lee-Barber J, English TE, Britton JF,刘建军,刘建军,刘建军. 转醛缩酶缺乏症患者对乙酰氨基酚的明显毒性.
- Bishop J, Britton JF(1),李建军,李建军,李建军,李建军,李建军,李建军,李建军. Juvenile idiopathic arthritis associated with combined JP-HHT syndrome: A novel phenotype associated with a novel variant in SMAD4.
Kelsey Guthrie, M.G.C., C.G.C.
- Kelsey Guthrie是一位在约翰霍普金斯大学遗传医学系工作的认证遗传咨询师. She provides genetic counseling to pediatric and adult patients and their families in the 代谢遗传学诊所 and the General Genetics Clinic. 她在代谢紊乱方面有专长, general genetics, 遗传性出血性毛细血管扩张症. She graduated from University of Maryland Baltimore genetic counseling program in May 2017 and went to the University of Maryland for her undergraduate degree, 中等教育和生物专业. 她的兴趣包括各级学生的教育、通识教育和社区外展, 她是多个专业组织的成员.
- Latif MA, Sobreira NLD, Guthrie KS, Motaghi M, Robinson GM, Shafaat O, Gong AJ, Weiss CR. Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.
Gretchen MacCarrick, M.S., C.G.C.
- 格雷琴·麦卡里克(Gretchen MacCarrick)是约翰·霍普金斯大学遗传医学系的一名董事会认证的遗传咨询师. 自2001年以来,她一直在心血管结缔组织诊所工作, 围绕推荐十大正规网赌平台护理和临床研究活动. She is co-founder of the Loeys-Dietz Syndrome Foundation and a member of the Professional Advisory Board for the Marfan Foundation.
- MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. Loeys-Dietz综合征:诊断和治疗的入门.
- Morales A, Allain DC, Arscott P, James E, MacCarrick G, et al. 在怀孕的心脏:什么产前和心血管遗传咨询师需要了解产妇心脏病.
- Demo E, Rigelsky C, Rideout A, Graf M, Pariani M, Regalado E, MacCarrick G. 遗传学与精准医学:遗传性胸部疾病.
Weiyi Mu, Sc.M., C.G.C.
- 穆伟毅是约翰霍普金斯大学遗传医学系的认证遗传咨询师. She received her Master of Science in Genetic Counseling from the Johns Hopkins Bloomberg School of Public Health and is certified by the American Board of Genetic Counseling. 她对儿科和成人神经遗传学人群特别感兴趣, 专门研究痴呆和运动障碍, 包括帕金森病, Huntington disease, and hereditary ataxias. 她为患者及其家属提供遗传学教育, 基因检测结果的解释, 和咨询,以促进决策和适应慢性疾病. 除了她的临床工作, 她还参与了基因发现研究, 患者预后和心理遗传咨询研究, 并为本科生实习生提供临床指导, 遗传咨询学生, medical students, medical residents.
- Forsyth R, Mu W, Gibson L, Serwint JR, Shilkofski N, Bodurtha J. 儿科住院医师结构化遗传学轮转:重要的教育机会.
- Mu W, Schiess N, Orthmann-Murphy JL, El-Hattab AW. The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.
- Mu W, Tochen L, Bertsch C, Singer HS, Barañano KW. 颅内钙化和肌张力障碍与新的8p11染色体缺失有关.2 encompassing SLC20A2 and THAP1.
Amy Patterson, M.S., C.G.C.
- 艾米·帕特森(Amy Patterson)是约翰·霍普金斯大学遗传医学系的遗传咨询师. 她在凯瑟琳和艾伦C中心为儿童和成人患者提供遗传咨询. 格林伯格骨骼发育不良中心,以及儿科和成人遗传学诊所. 她获得了波士顿大学遗传咨询硕士学位和公共卫生证书, 获得巴克内尔大学神经科学学士学位. 艾米是波士顿儿童医院的研究员, 通过这个项目,她参加了神经发育和相关残疾的跨学科培训. Amy has been an advocate for people with rare diseases through the National Organization for Rare Disorders’ Rare Action Network of Massachusetts and worked to bring together a community of people with rare diseases and their families on policy issues.
Karen Raraigh, M.G.C., C.G.C.
- Karen Raraigh是约翰霍普金斯大学遗传医学系的认证遗传咨询师, 她在那里研究囊性纤维化(CF)和相关疾病. 她的主要研究领域是CFTR临床和功能翻译(CFTR2)数据集和项目的管理, 基因型-表型相关性 CFTR variants, 遗传信息的交流, 以及CF社区中遗传咨询师的参与. 凯伦是CF遗传学教育服务的创始人, 哪个提供CF提供程序的成员, patient, 而研究界获取教育信息的途径和具体的变体解释 CFTR variants. She has been funded by the US CF Foundation to investigate the role of genetic counselors in the CF clinic and on the CF care team. Karen is both the current and a former chair of the Genetic Counselors’ Consortium within Johns Hopkins and led the CF Special Interest Group within the National Society of Genetic Counselors from 2014-2016. 在约翰霍普金斯大学工作之前, 凯伦在哥伦布的全国儿童医院从事了两年的普通儿科工作, 在都柏林的一个成人囊性纤维化人群中进行了一年的研究, 在美国国务院富布赖特基金的支持下. 她于2008年获得马里兰大学医学院遗传咨询硕士学位.
- Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR. 功能分析对于解释与可变表达性相关的错义变异是必不可少的.
- Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K,等. 确定囊性纤维化跨膜传导调节基因变异的疾病易感性.
- Langfelder-Schwind E, Raraigh KS, Parad R. 遗传咨询师参与囊性纤维化新生儿筛查阳性诊断决议的实践变化.
Sumathi Rachamadugu, M.Sc., M.S., C.G.C.
- Sumathi Rachamadugu是约翰霍普金斯基因组学DNA诊断实验室的遗传顾问. 她获得了印度Vellore理工学院生物医学遗传学硕士学位, 随后在犹他大学获得遗传咨询硕士学位. 她曾在印度担任细胞遗传学专家, and has several years of work experience as a clinical genetic counselor in the general genetics and adult cardiovascular clinics. 在加入约翰霍普金斯基因组公司之前, Sumathi曾在Intermountain Healthcare工作,在那里她是成人心血管遗传咨询项目的团队领导, 并在各种影响遗传咨询的委员会任职, 包括人口研究结果委员会. 苏马蒂热衷于为非遗传学医疗提供者提供遗传学教育, 学习变型分类的艺术和科学, 实施技术,使遗传咨询工作流程自动化和规模化. 她获得了美国遗传咨询委员会的认证, 并且是国家遗传咨询师协会的活跃成员.
Krista Schatz, M.S., C.G.C.
- Krista Schatz is a board certified genetic counselor at the McKusick-Nathans Institute and 遗传医学系 at Johns Hopkins. 她在各种临床环境中提供遗传咨询,包括儿科和成人一般遗传学, 溶酶体贮积症, mitochondrial disease, epilepsy, and hearing loss. 她也是约翰霍普金斯综合神经纤维瘤病中心(JHCNC)的首席遗传咨询师. 在来约翰霍普金斯大学之前, she worked for three years as a preconception and prenatal genetic counselor at a maternal fetal medicine practice in Maryland. 她于2012年获得凯斯西储大学遗传咨询理学硕士学位.
- 张建军,张建军,张建军,等. KDM6B基因的遗传变异与神经发育迟缓和畸形特征有关.
- Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KS, Gunay-Aygun M, Gibbs RA. 成人夏-吉布斯综合征:一例报告与洞察条件的自然史.
- 王丽娟,王丽娟,王丽娟,等. PRR12的单倍体不足会导致一系列神经发育障碍, eye, 多系统异常.
Christy Smith, Sc.M., C.G.C.
- 克里斯蒂·史密斯自2016年以来一直是约翰·霍普金斯大学遗传医学系的董事会认证遗传顾问. 她为儿童和成人推荐十大正规网赌平台看病, 对那些患有遗传性神经肌肉疾病的人特别感兴趣, retinal disorders, and pediatric cancers. 在来约翰霍普金斯大学之前, she worked at Greater Baltimore Medical Center (GBMC) seeing patients with Ehlers-Danlos syndrome and also adults for cancer risk assessment. She received her Masters of Science degree in Genetic Counseling from the Johns Hopkins/National Human Genome Research Institute (NHGRI) genetic counseling program in 2011. 除了她的临床工作, 她是国家遗传咨询师协会的活跃成员, 马里兰特区遗传咨询师协会, 也是美国遗传咨询委员会的外交官和成员. 她还教授和指导遗传咨询专业的学生, fellows, residents, medical students, 以及遗传咨询领域的本科生.
- Knoll J, Li A, Smith CH, Schratz KE, Cooper SL, Meah T, Helmke E, Pratilas CA, Bodurtha J. 提高儿童肿瘤易感综合征的检测.
- Schwartz MLB, Klein WMP, Erby LAH, Smith C, Roter DL. The impact of the number of tests presented and a provider recommendation on decisions about genetic testing for cancer risk.
- muw, Muriello M, Clemens J, You W, Smith C,陈平,罗维,Francomano J, Kline AD, C, Bodurtha. Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.