Jan M. Friedman - Publications, H-index & Citations

Jan M. Friedman

University of British Columbia

93H指数

539论文数

3.4W被引数

收录论文 133

发表时间

Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights 群体规模疾病相关串联重复序列分析揭示了位点和祖先特异性见解

Nature Communications

IF15.7

2026-08-06

OAAI

Indhu-Shree Rajan-Babu; Readman Chiu; Ben Weisburd; Iris Caglayan; Inanc Birol; Jan. M. Friedman

Paternal age effect in autosomal dominant or X-linked de novo variants identified by genome-wide sequencing

Human Genetics and Genomics Advances

IF3.6

2026-02-03

OAAI

Ella Beraldo; Shelin Adam; Colleen Guimond; Jan M. Friedman

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data 通过临床测序数据再分析鉴定复合杂合CYP11A1变异

American Journal of Medical Genetics Part A

IF1.7

2025-12-01

OAAI

Bedon, Ana Acosta; Akbari, Vahid; Rothstein, Ralph; Inman, Alexandra; Bhalla, Sanjiv; An, Jianghong; Friedman, Jan M.; Weksberg, Rosanna; Boerkoel, Cornelius; Jones, Steven J. M.; Gibson, William T.

Systematic Review and Meta-Analysis: Acetaminophen Use During Pregnancy and the Risk of Neurodevelopmental Disorders in Childhood 系统综述与荟萃分析：孕期对乙酰氨基酚使用与儿童神经发育障碍风险

Journal of the American Academy of Child & Adolescent Psychiatry

IF0

2025-10-06

OAAI

Anick Bérard; Judith Cottin; Lisiane F. Leal; Cyndie Picot; Justine Pleau; Jan M. Friedman; Per Damkier; Michel Cucherat; Sura Alwan; Lucie Jurek; Louise M. Winn; Bruce C. Carleton; Andréa D. Bertoldi; Sonia M. Grandi; Reem Masarwa; Philippe Dodin; Michael Ceulemans; Robert W. Platt; Mikail Nourredine; Erika Björkström Gram; Areti Angeliki Veroniki; Jérôme Massardier; Andrea C. Tricco

ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman ZMIZ1相关神经发育障碍在一名52岁女性中的表现

American Journal of Medical Genetics Part A

IF1.7

2025-10-01

PREAI

Rogan, Sila; Gador, Anthony; Carroll, Evelyn; Friedman, Jan M.

A clinical and genotype-phenotype analysis of MACF1 variants MACF1变异的临床与基因型-表型分析

The American Journal of Human Genetics

IF0

2025-09-08

PREAI

Jordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini

Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children

GENETICS IN MEDICINE

IF6.2

2024-09-01

PREAI

Birch, Patricia; Beauchesne, Rhea; Bansback, Nick; Boelman, Cyrus; Connolly, Mary; Demos, Michelle; Friedman, Jan M.; Race, Simone; Stockler, Sylvia; Elliott, Alison M.; Adam, Shelin

Early real-world experience with positive multi-cancer early detection (MCED) test cases and negative initial diagnostic work-up 早期真实世界经验涉及阳性多癌种早期检测（MCED）测试案例和阴性初始诊断检查。

ANNALS OF ONCOLOGY

IF65.4

2024-09-01

PREAI

Westgate, C.; Gordon, O.; Margolis, M.; Oh, Y.; Broyles, D.; Friedman, J.; Jones, W.; Ferrell, J.; Venn, O.; Jiang, R.; Leake, S.; Hubbell, E.; Fung, E. T.; Klein, E. A.; Venstrom, J.; Shaknovich, R. S.; O'Donnell, E.

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada

JAMA NETWORK OPEN

IF9.7

2024-07-10

OAAI

Weymann, Deirdre; Buckell, John; Fahr, Patrick; Loewen, Rosalie; Ehman, Morgan; Pollard, Samantha; Friedman, Jan M.; Stockler-Ipsiroglu, Sylvia; Elliott, Alison M.; Wordsworth, Sarah; Buchanan, James; Regier, Dean A.

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada

GENETICS IN MEDICINE

IF6.2

2024-04-01

OAAI

Regier, Dean A.; Loewen, Rosalie; Chan, Brandon; Ehman, Morgan; Pollard, Samantha; Friedman, Jan M.; Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara; Race, Simone; Elliott, Alison M.; Dragojlovic, Nick; Lynd, Larry D.; Weymann, Deirdre

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

NATURE REVIEWS GENETICS

IF52

2024-03-11

PREAI

Rajan-Babu, Indhu-Shree; Dolzhenko, Egor; Eberle, Michael A.; Friedman, Jan M.

Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?

GENETICS IN MEDICINE

IF6.2

2024-02-01

OAAI

Friedman, Jan M.; Bombard, Yvonne; Carleton, Bruce; Issa, Amalia M.; Knoppers, Bartha; Plon, Sharon E.; Rahimzadeh, Vasiliki; V. Relling, Mary; Williams, Marc S.; van Karnebeek, Clara; Vears, Danya; Cornel, Martina C.

COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis 神经纤维瘤病1型、神经纤维瘤病2型或神经鞘瘤病患者的新型冠状病毒肺炎

GENETICS IN MEDICINE

IF6.2

2023-02-01

OAAI

Banerjee, Jineta; Friedman, Jan M.; Klesse, Laura J.; Yohay, Kaleb H.; Jordan, Justin T.; Plotkin, Scott R.; Allaway, Robert J.; Blakeley, Jaishri O.

Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies*

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-12-01

OAAI

Friedman, Jan M.; van Essen, Peter; van Karnebeek, Clara D. M.

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation 更新2型神经纤维瘤病和神经鞘瘤病的诊断标准和术语: 国际共识推荐

GENETICS IN MEDICINE

IF6.2

2022-09-01

OAAI

Plotkin, Scott R.; Messiaen, Ludwine; Legius, Eric; Pancza, Patrice; Avery, Robert A.; Blakeley, Jaishri O.; Babovic-Vuksanovic, Dusica; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Giovannini, Marco; Gutmann, David H.; Hanemann, Clemens Oliver; Kalamarides, Michel; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; MacCollin, Mia; Papi, Laura; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Smith, Miriam J.; Stemmer-Rachamimov, Anat; Stevenson, David A.; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Wolkenstein, Pierre; Evans, D. Gareth

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats 审稿人: 串联重复序列及其周围的读取比对的单倍型解析可视化

GENOME MEDICINE

IF11.2

2022-08-11

OAAI

Dolzhenko, Egor; Weisburd, Ben; Ibanez, Kristina; Rajan-Babu, Indhu-Shree; Anyansi, Christine; Bennett, Mark F.; Billingsley, Kimberley; Carroll, Ashley; Clamons, Samuel; Danzi, Matt C.; Deshpande, Viraj; Ding, Jinhui; Fazal, Sarah; Halman, Andreas; Jadhav, Bharati; Qiu, Yunjiang; Richmond, Phillip A.; Saunders, Christopher T.; Scheffler, Konrad; van Vugt, Joke J. F. A.; Zwamborn, Ramona R. A. J.; Chong, Samuel S.; Friedman, Jan M.; Tucci, Arianna; Rehm, Heidi L.; Eberle, Michael A.

The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit

GENETICS IN MEDICINE

IF6.2

2022-08-01

OAAI

Llorian, Elisabet Rodriguez; Dragojlovic, Nick; Campbell, Teresa M.; Friedman, Jan M.; Osiovich, Horacio; Elliott, Alison M.; Lynd, Larry D.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-07-01

OAAI

Elliott, Alison M.; Adam, Shelin; du Souich, Christele; Lehman, Anna; Nelson, Tanya N.; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T.; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K.; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J.; Patel, Millan S.; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M.

Linked-read sequencing for detecting short tandem repeat expansions

SCIENTIFIC REPORTS

IF3.9

2022-06-07

OAAI

Chiu, Readman; Rajan-Babu, Indhu-Shree; Birol, Inanc; Friedman, Jan M.

White matter is increased in the brains of adults with neurofibromatosis 1 成人神经纤维瘤病1的大脑白质增加

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-03-05

OAAI

Wang, Su; Friedman, Jan M.; Suppa, Per; Buchert, Ralph; Mautner, Victor-Felix

研究方向