Publications | International Center for Genetic Disease at Harvard Medical School

Designing inclusive newborn sequencing research: insights from parents in underrepresented communities.

Authors :Del Rosario MC , Walmsley SA , Harrison BW , Stephens CT , Zettler B , Rivera-Cruz G , Agrawal P , Brower A , Chigbu S , Christensen KD , Genetti CA , Givens R , Gold NB , Reeves IV , Schichter I , Shariat H , Simon S , Smith HS , Uveges M , Green RC , Holm IA , Pereira S

Published On :2026 Jan 28

Journal Article

International clinical evidence-based guideline for Kleefstra syndrome.

Authors :Bouman A , Gaasterland CMW , Sloof-Enthoven C , Draksler TZ , Rots D , Vermeulen-Kalk K , Geelen JM , Morison LD , Morgan AT , Wicher D , Rivero S , Fernández-Ulibarri I , Drake J , O'Donnell Luria A , Pickup L , Shalhoub C , Milani D , Hennekam RC , Tumiene B , Dies KA , Garavelli L , Bedeschi MF , Danieli A , van Renssen LV , Palmer EE , Grosdemouge I , Hadzsiev K , Ousager LB , Frazier Z , Chopra M , Szakszon K , Ewans L , Srivastava S , Balbo N , Caterino E , Schenck A , Smith R , Boonstra FN , van Till SAL , Vasireddi SK , Brian Chung HY , Klein Haneveld MJ , Vyshka K , ERN Ithaca Guideline Working Group , Kleefstra T

Published On :2026 Jun

Journal Article Review Research Support, Non-U.S. Gov't

Maternal Communication of BRCA Risk to Adolescent and Young Adult Children: Implications for Supportive Care Intervention.

Authors :Statman MR , Sleiman MM Jr , Peshkin BN , Hamilton JG , DeMarco TA , Rana HQ , Garber JE , Sacca R , Ovadia H , Isaacs C , Tercyak KP

Published On :2026 Jan

Journal Article

Latent Variable Indirect Response Modeling of Cendakimab Exposure-Response for Longitudinal Dysphagia Days Using a Combined Uniform-Binomial Likelihood Framework.

Authors :Du S , Wojciechowski J , Zhang P , Aras U , Murthy B , Shen J , Kondic A , Hu C

Published On :2026 Feb

Journal Article Randomized Controlled Trial

Development and pilot testing of AYA-RISE, a risk information and screening education intervention for adolescents and young adults with cancer risk syndromes.

Authors :Kamihara J , Fisher L , Schienda J , Vanderwall R , Snir M , Snir G , Simmons E , Khalaj A , Goler E , Hamilton KV , Porter CC , Pencheva B , Schiffman JD , Maese LD , Kohlmann W , Henderson TO , Garber JE , Diller LR , Desai AV , Savage S , Klosky JL , Rana HQ , Mack JW

Published On :2026 Jan 23

Journal Article Research Support, N.I.H., Extramural

Surgical treatment of Emphysematous Osteomyelitis of the spine in malnutrition and anemia patient: a rare case report.

Authors :Zhang J , Feng S , Liu Z , Xie K , Gu C , Shen J , Zhang Y , Zhou Y

Published On :2026 Jan 19

Journal Article Case Reports

GH Alters Lymphatic Vessels in Female Mice and STAT5 Phosphorylation in Human Lymphatic Endothelial Cells.

Authors :Walsh C , Scott E , Wagner E , Walsh J , Reddy S , Ahmad A , Basu R , Sevick-Muraca E , Brody R , Sandbhor U , Neggers S , Kopchick JJ

Published On :2026 Jan 8

Journal Article

Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortex.

Authors :Hylton NK , Kang DJ , Decker SC , Exposito-Alonso D , Cambridge CN , Golinski SR , Soriano KI , Neil JE , Talukdar M , Andersen RE , Buckner TM , Qian X , Doddi AD , Braddock SR , DeGennaro EM , Akula SK , Simo S , Smith RS , Walsh CA

Published On :2026 Jan 9

Journal Article Preprint

Photopolymerizable green composite biomaterials for potential 3D printing applications.

Authors :Shen J , Peng X , Xiao P

Published On :2026 Feb 17

Journal Article Review

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Authors :van Spronsen F , Peters H , Margvelashvili L , Agladze D , Schwartz IVD , Giżewska M , Hamazaki T , Guilder L , MacDonald A , Vijay S , Inwood A , Minami M , Fjellbirkeland O , Lund A , Lah M , Thomas JA , Longo N , Kiykim E , Ishige M , Burlina A , Bélanger-Quintana A , Rutsch F , Opladen T , Mungan H , Ezgü F , Bratkovic D , Chakrapani A , Ito T , Guimas A , Zori R , Tchan M , Sacharow S , Oliveira A , Janeiro P , Guerra IC , Plana JC , Yıldız Y , Canda E , Khan A , Vockley J , Breilyn MS , Manti F , Larkin A , Hughes C , Liu E , Gao L , Ingalls K , Smith N , Muntau AC

Published On :2026 Apr

Journal Article Clinical Trial, Phase III Research Support, Non-U.S. Gov't

Electromyography (EMG) Signal Processing to Evaluate Low-Frequency Tremors.

Authors :O'Sullivan S , Daly M , Murray N , Rodrigues TB

Published On :2025 Dec 25

Journal Article

Targeting Growth Hormone Receptor to Overcome Therapy Resistance in Non-Small Cell Lung Cancer.

Authors :Ahmad A , Basu R , Fyffe C , Geiger R , Walsh C , Minto D , Brenya E , Alur AV , Neggers SJCMM , Kopchick JJ

Published On :2025 Dec 22

Journal Article

Nutrient requirements of organ-specific metastasis in breast cancer.

Authors :Abbott KL , Subudhi S , Ferreira R , Gültekin Y , Steinbuch SC , Munim MB , Ramesh DL , Honeder SE , Kumar AS , Wu M , Hansen JA , Shevzov-Zebrun A , Rashan EH , Eghbalian KM , Sivanand S , Barbeau AM , Riedmayr LM , Duquette M , Ali A , Henning N , Trojan SE , Waite M , Kunchok T , Nakano MA , Gourgue F , Ferraro GB , Do BT , Spanoudaki V , Sánchez-Rivera FJ , Jin X , Church GM , Jain RK , Vander Heiden MG

Published On :2026 Jan

Journal Article Research Support, N.I.H., Extramural

Integrating Standardized Patient into Case-Based Learning in Posterior Fossa Meningioma Teaching: Evaluating the Added Value Beyond Case-Based Learning Alone.

Authors :Zhang S , Zhao C , Shen J

Published On :2025

Journal Article

Factors Influencing Sleep Quality in Postoperative Urological Patients and its Correlation with Ward Noise Exposure Levels.

Authors :Shen J , Xie X , Zhang K , Mu Y

Published On :2025 Nov-Dec 01

Journal Article