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    Monkol Lek, PhD

    Associate Professor Term of Genetics
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    About

    Titles

    Associate Professor Term of Genetics

    Biography

    Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.

    He was the lead author/analyst for the Exome Aggregation Consortium (ExAC) project that was published in Nature 2016. He went on to lead the NIH funded Broad Center for Mendelian Genomics (CMG) analysis team. As lead analyst, he oversaw the analysis strategy for all major CMG collaborations and organized monthly meetings to foster sharing of new methods and analysis amongst the rare disease community. He also coordinated the data processing and preliminary analysis of NIH Gabriella Miller Kids First (GMKF) cohorts sequenced or reprocessed at the Broad Institute.

    Monkol has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he lead the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery.

    Last Updated on May 07, 2025.

    Appointments

    • Genetics

      Associate Professor on Term
      Primary
      Genetics

    Other Departments & Organizations

    Education & Training

    PhD
    University of Sydney, Medicine (2012)
    BSc
    University of New South Wales, Physiology (2007)
    BE
    University of New South Wales, Bioinformatics (2007)
    BE
    University of New South Wales, Computer Engineering (2001)

    Research

    Overview

    Medical Research Interests

    Genetics; Genetics, Medical; Genomics; Neuromuscular Diseases

    Research at a Glance

    Yale Co-Authors

    Frequent collaborators of Monkol Lek's published research.

    Publications

    2026

    • “It didn’t feel like anything unusual because we had already been through so much”: Disability-related research experiences of families with children enrolled in the undiagnosed diseases network
      Mintz K, Altamirano E, Halley M, Barton K, Cho M, Bernstein J, Carter J, Network U, Abdenur J, Acosta M, Adams D, Afzali B, Allenspach E, Alvarez R, Andrews A, Ashley E, Attaripour S, Auwaerter P, Bachir S, Bacino C, Bademci G, Baldridge D, Baldwin E, Balton E, Balwani M, Bamshad M, Barbosa M, Barbouth D, Barrick R, Basel D, Bastarache L, Bayrak-Toydemir P, Beagle T, Beggs A, Bell M, Bellen H, Berger P, Bernstein J, Berry G, Bier L, Bivona S, Blackburn R, Blieden L, Blue E, Bonner D, Bordini B, Borja N, Botto L, Boyden S, Briere L, Burke E, Burrage L, Bustos F, Butte M, Butterfield R, Byers P, Byrd W, Callaway K, Carey J, Carvalho G, Cassini T, Chan C, Chang R, Chang Y, Chanprasert S, Chao E, Chao H, Chiang D, Chinn I, Chung W, Coakley T, Cogan J, Cole F, Conboy E, Corona R, Craigen W, Crouse A, Cunningham-Rundles C, D'Souza P, Dai H, Darr K, Davis E, Davis J, Delgado M, Dickson P, Dipple K, Dorrani N, Elkadri A, Eng C, Esteves C, Evard R, Ezell K, Farraj L, Fisher P, Fogel B, Foksinska A, Fu J, Gahl W, Gamazon E, Ganetzky R, Gayle E, Gelb B, Glanton E, Glass I, Goddard P, Gonzalez J, Gorzynski J, Graham B, Gropman A, Guo Z, Halley M, Hamid R, Hanchard N, High F, Hisama F, Holm I, Hom J, Hoover-Fong J, Horike-Pyne M, Huang A, Huang Y, Hubshman M, Hurst A, Introne W, Iverson A, Jarvik G, Jean-Marie O, Jeffries L, Jen J, Jensen T, Jiang Y, Jobanputra V, Karasozen Y, Keehan L, Ketkar S, Kiley D, Kilich G, Klee E, Kobren S, Kohane I, Kohler J, Korf B, Koziura M, Krokosky A, Kumar R, La Spada A, Lalani S, Lanpher B, Lanza I, Latchman K, LeBlanc K, Lee B, Leitheiser M, Lek M, Leppig K, Lertwilaiwittaya P, Levanto M, Lewis R, Li R, Liaqat K, Liu P, Longo N, Loscalzo J, Macnamara E, Maduro V, Malicdan M, Manabe Y, Mantcheva L, Mao R, Marom R, Marth G, Martin B, Martin M, Martínez-Agosto J, Marwaha S, Maurer T, Mayhew C, McCarrier J, McMinn A, McMullen P, Mendez H, Mendonca E, Might M, Mikati M, Miller D, Mirzaa G, Mitchell B, Mochida G, Montgomery S, Moretti P, Morgan J, Morimoto M, Mozaffar T, Mulvihill L, Muriello M, Nagamani S, Nelson S, Nicholas T, Nouraee A, Novacic D, Oglesbee D, Orengo J, Overbury R, Page K, Pak S, Pallais J, Parker N, Paul A, Peart L, Perera L, Perlman S, Petcharet L, Phillips J, Pinto e Vairo F, Potocki L, Prada C, Quarells R, Quinlan A, Rader D, Rajagopalan R, Rao D, Raper A, Raskind W, Regan-Fendt K, Reuter C, Rives L, Robinson M, Rodan L, Rodriguez M, Romero M, Rosenfeld J, Rosenthal E, Sabaii M, Saifeddine M, Sampson J, Sayer D, Schedl T, Schend J, Schimmenti L, Schoch K, Schymick J, Scott D, Serrano T, Seto E, Shadrina M, Shashi V, Shelkowitz E, Shin J, Shin S, Shuman S, Shyr C, Silva M, Sirugo G, Sisco K, Skraban C, Slavotinek A, Smith C, Smith K, Sninsky J, Sobreira N, Solnica-Krezel L, Solomon B, Spillmann R, Steenari M, Stergachis A, Sullivan K, Sweetser D, Swerdzewski B, Sybert V, Tabor H, Tan Q, Tarakad A, Taylor H, Tekin M, Thorson W, Tifft C, Timp W, Toro C, Tousseau J, Tran A, Treat K, Truong T, Ungar R, Vargas A, Velinder M, Verbsky J, Vetrini F, Vilain E, Viskochil D, Vogel T, Wahl C, Walker M, Walley N, Wambach J, Wangler M, Ward A, Ward D, Ware S, Washington T, Wegner D, Welt C, Wener M, Westerfield M, Wheeler M, Wiel L, Wilk B, Wishart E, Witmer P, Wohler E, Wolfe L, Wood H, Worley K, Worthey E, Xiao C, Yamamoto S, Yap K, Zimmermann M, Zuchner S, Tabor H. “It didn’t feel like anything unusual because we had already been through so much”: Disability-related research experiences of families with children enrolled in the undiagnosed diseases network. Genetics In Medicine 2026, 28: 102663. PMID: 42439107, PMCID: PMC13367406, DOI: 10.1016/j.gim.2026.102663.
      Peer-Reviewed Original Research
    • Meeting report on the 2nd Clinical and Scientific Conference on ADSS1 myopathy. 24 October 2025, Boston Children’s Hospital, Brookline, Massachusetts, United States of America
      Rybalka E, Shieh P, Jiao K, Zhu W, Saito Y, Kôc-Yekedüz M, Upadhyay J, Jinnah H, Bach J, Voorn E, Timpani C, Stepchenkova E, Hanna-Rose W, Yammine K, Moghadaszadeh B, Beggs A, Brault J, Huang S, Lek M, Wan L, Pandey M, Bordi M, Evesson F, Baweja N, Kakkar P. Meeting report on the 2nd Clinical and Scientific Conference on ADSS1 myopathy. 24 October 2025, Boston Children’s Hospital, Brookline, Massachusetts, United States of America. Neuromuscular Disorders 2026, 107375. DOI: 10.1016/j.nmd.2026.107375.
      Peer-Reviewed Original Research
    • DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade
      Tenorio A, Sugio T, Cheng J, Bonner D, Esfahani M, Kasinathan S, Hsu J, Moyer A, Vera L, Carter J, Reuter C, Marwaha S, Balboni I, Tran A, Tarakad A, Balasubramanyam A, Lee B, Bacino C, Scott D, Seto E, Clark G, Dai H, Chao H, Chinn I, Orengo J, Rosenfeld J, Worley K, Burrage L, Emrick L, Potocki L, Hubshman M, Lewis R, Marom R, Lalani S, Ketkar S, Vogel T, Craigen W, Sninsky J, Blieden L, Nagamani S, Bellen H, Wangler M, Kanca O, Yamamoto S, Eng C, Ward P, Liu P, Vanderver A, Skraban C, Behrens E, Kilich G, Sullivan K, Hassey K, Rajagopalan R, Ganetzky R, Cuddapah V, Raper A, Rader D, Sirugo G, Slavotinek A, Mayhew C, Mendonca E, Guo Z, McConkie‐Rosell A, Schoch K, Mikati M, Walley N, Spillmann R, Shashi V, Beggs A, Sweetser D, Chiang D, Rao D, High F, Mochida G, Berry G, Holm I, Pallais J, Loscalzo J, Rodan L, Briere L, Walker M, Truong T, Chung W, Esteves C, Glanton E, Kohane I, LeBlanc K, Sunyaev S, Kobren S, Graham B, Conboy E, Vetrini F, Treat K, Liaqat K, Mantcheva L, Ware S, Page K, Auwaerter P, Manabe Y, Pardo‐Villamizar C, Hoover‐Fong J, Witmer P, Timp W, Robinson M, Berger Z, Wohler E, Sobreira N, Nouraee A, Prada C, Davis E, Yap K, Regan‐Fendt K, Silva M, McMullen P, Mitchell B, Lanpher B, Oglesbee D, Klee E, Pinto F, Lanza I, Darr K, Mulvihill L, Schimmenti L, Tan Q, Dasari S, Elkadri A, Bordini B, Basel D, Verbsky J, McCarrier J, Muriello M, Zimmermann M, Rebelo A, Smith C, Barbouth D, Bademci G, Gonzalez J, Latchman K, Peart L, Tekin M, Borja N, Zuchner S, Bivona S, Thorson W, Taylor H, Quarells R, Iverson A, Gelb B, Cunningham‐Rundles C, Gayle E, Jen J, Bier L, Barbosa M, Balwani M, Shadrina M, Evard R, Shuman S, Shin S, Jobanputra V, Gropman A, Swerdzewski B, Toro C, Wahl C, Novacic D, Macnamara E, Mulvihill J, Acosta M, D'Souza P, Maduro V, Afzali B, Solomon B, Tifft C, Adams D, Burke E, Rossignol F, Wood H, Fu J, Davis J, Petcharet L, Wolfe L, Delgado M, Morimoto M, Sabaii M, Malicdan M, Hanchard N, Jean‐Marie O, Introne W, Gahl W, Huang Y, Stergachis A, Miller D, Rosenthal E, Blue E, Balton E, Shelkowitz E, Allenspach E, Hisama F, Jarvik G, Mirzaa G, Glass I, Leppig K, Dipple K, Wener M, Horike‐Pyne M, Bamshad M, Byers P, Perlman S, Chanprasert S, Sybert V, Raskind W, Dargie N, Chan C, Velasquez F, Ward I, Schend J, Morgan J, Bell M, Leitheiser M, Saifeddine M, Berger P, Li R, Beagle T, Miller A, Anguiano B, Martin B, Tucker B, Reuter C, Bonner D, Kravets E, Mendez H, Tabor H, Sampson J, Hom J, Kohler J, Schymick J, Gorzynski J, Bernstein J, Smith K, Keehan L, Wiel L, Wheeler M, Halley M, Levanto M, Goddard P, Fisher P, Ungar R, Alvarez R, Emami S, Marwaha S, Montgomery S, Bachir S, Jensen T, Maurer T, Coakley T, Ashley E, Hurst A, Wilk B, Korf B, Worthey E, Callaway K, Rodriguez M, Lertwilaiwittaya P, Blackburn R, Skelton T, Mamidi T, Washington T, Crouse A, Whitlock J, Nakano‐Okuno M, Might M, Byrd W, La Spada A, Xiao C, Chao E, Vilain E, Abdenur J, Blanco K, Steenari M, Barrick R, Chang R, Attaripour S, Sandmeyer S, Mozaffar T, Huang A, Vargas A, Russell B, Fogel B, Dell'Angelica E, Carvalho G, Martínez‐Agosto J, Farraj L, Butte M, Martin M, Dorrani N, Parker N, Corona R, Nelson S, Karasozen Y, Sayer D, Tousseau J, Quinlan A, Ward A, Andrews A, Welt C, Viskochil D, Baldwin E, Carey J, Alvey J, Botto L, Longo N, Moretti P, Overbury R, Butterfield R, Boyden S, Nicholas T, Velinder M, Marth G, Bayrak‐Toydemir P, Mao R, Westerfield M, Phillips J, Ezell K, Rives L, Hamid R, Krokosky A, McMinn A, Shyr C, Gamazon E, Cogan J, Perera L, Bastarache L, Koziura M, Cassini T, Paul A, Kiley D, Wegner D, McRoy E, Wambach J, Sisco K, Dickson P, Cole F, Baldridge D, Shin J, Solnica‐Krezel L, Pak S, Schedl T, Bale A, Oladele C, Hendry C, Wang E, Xu H, Zhang H, Jeffries L, Romero M, Gerstein M, Spencer‐Manzon M, Lek M, Derar N, Mane S, Serrano T, Vasiliou V, Halstead W, Jiang Y, Wheeler M, Bernstein J, Alizadeh A, Gomez‐Ospina N. DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade. ACR Open Rheumatology 2026, 8: e70184. PMID: 42396794, PMCID: PMC12928082, DOI: 10.1002/acr2.70184.
      Peer-Reviewed Original Research
    • Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia
      Pasca S, Hong Y, Shi W, Puiu D, Lake N, Lek M, Guallar E, Arking D, Gondek L. Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia. Nature Communications 2026, 17: 2898. PMID: 41708630, PMCID: PMC13031533, DOI: 10.1038/s41467-026-69861-8.
      Peer-Reviewed Original Research
    • Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association
      Keehan L, Ono-Minagi H, Hadhud M, Rips J, Hinds D, Fischer A, Bartlett J, McCray P, Qawasmi N, Nathan N, Louvrier C, Desroziers T, Damme M, Griese M, Wegner D, Cole F, Wambach J, Wheeler M, Burbelo P, Bonner D, Network U, Tran A, Tarakad A, Balasubramanyam A, Lee B, Bacino C, Scott D, Seto E, Clark G, Dai H, Chao H, Chinn I, Orengo J, Posey J, Rosenfeld J, Worley K, Burrage L, Emrick L, Potocki L, Hubshman M, Lewis R, Marom R, Lalani S, Ketkar S, Vogel T, Craigen W, Sninsky J, Blieden L, Nagamani S, Bellen H, Wangler M, Kanca O, Yamamoto S, Eng C, Ward P, Liu P, Vanderver A, Skraban C, Behrens E, Kilich G, Sullivan K, Hassey K, Rajagopalan R, Ganetzky R, Cuddapah V, Raper A, Rader D, Sirugo G, Jobanputra V, McConkie-Rosell A, Schoch K, Mikati M, Walley N, Spillmann R, Shashi V, Beggs A, MacRae C, Sweetser D, Rao D, Silverman E, Fieg E, High F, Berry G, Holm I, Pallais J, Stoler J, Loscalzo J, Rodan L, Cobban L, Briere L, Coggins M, Walker M, Maas R, Korrick S, Douglas J, Esteves C, Glanton E, Kohane I, LeBlanc K, Mahoney R, Sunyaev S, Kobren S, Graham B, Conboy E, Vetrini F, Treat K, Liaqat K, Mantcheva L, Ware S, Mitchell B, Lanpher B, Oglesbee D, Klee E, Pinto e Vairo F, Lanza I, Darr K, Mulvihill L, Schimmenti L, Tan Q, Dasari S, Elkadri A, Bordini B, Basel D, Verbsky J, McCarrier J, Muriello M, Zimmermann M, Rebelo A, Smith C, Barbouth D, Bademci G, Gonzalez J, Latchman K, Peart L, Tekin M, Borja N, Zuchner S, Bivona S, Thorson W, Taylor H, Quarells R, Iverson A, Gelb B, Cunningham-Rundles C, Gayle E, Jen J, Bier L, Barbosa M, Balwani M, Shadrina M, Evard R, Shuman S, Shin S, Gropman A, Swerdzewski B, Toro C, Wahl C, Novacic D, Macnamara E, Mulvihill J, Acosta M, D'Souza P, Maduro V, Afzali B, Solomon B, Tifft C, Adams D, Burke E, Rossignol F, Wood H, Fu J, Davis J, Petcharet L, Wolfe L, Delgado M, Morimoto M, Sabaii M, Malicdan M, Hanchard N, Jean-Marie O, Introne W, Gahl W, Huang Y, Stergachis A, Miller D, Rosenthal E, Blue E, Balton E, Shelkowitz E, Allenspach E, Hisama F, Jarvik G, Mirzaa G, Glass I, Leppig K, Dipple K, Wener M, Horike-Pyne M, Bamshad M, Byers P, Kumar R, Perlman S, Chanprasert S, Sybert V, Raskind W, Dargie N, Chan C, Velasq F, Ward I, Schend J, Morgan J, Bell M, Leitheiser M, Saifeddine M, Berger P, Li R, Beagle T, Miller A, Anguiano B, Martin B, Tucker B, Reuter C, Bonner D, Kravets E, Mendez H, Tabor H, Sampson J, Hom J, Kohler J, Schymick J, Gorzynski J, Bernstein J, Smith K, Keehan L, Wiel L, Wheeler M, Halley M, Levanto M, Goddard P, Fisher P, Ungar R, Alvarez R, Emami S, Marwaha S, Montgomery S, Bachir S, Jensen T, Maurer T, Coakley T, Ashley E, Al-Beshri A, Hurst A, Wilk B, Korf B, Worthey E, Callaway K, Rodriguez M, Skelton T, Mamidi T, Crouse A, Whitlock J, Nakano-Okuno M, Might M, Byrd W, La Spada A, Xiao C, Chao E, Vilain E, Abdenur J, Blanco K, Steenari M, Barrick R, Chang R, Attaripour S, Sandmeyer S, Mozaffar T, Huang A, Vargas A, Russell B, Fogel B, Dell'Angelica E, Carvalho G, Martínez-Agosto J, Farraj L, Butte M, Martin M, Dorrani N, Parker N, Corona R, Nelson S, Karasozen Y, Quinlan A, Ward A, Andrews A, Welt C, Viskochil D, Baldwin E, Carey J, Alvey J, Pace L, Botto L, Longo N, Moretti P, Overbury R, Butterfield R, Boyden S, Nicholas T, Velinder M, Marth G, Bayrak-Toydemir P, Mao R, Westerfield M, Corner B, Phillips J, Ezell K, Rives L, Hamid R, Neumann S, McMinn A, Cogan J, Cassini T, Paul A, Kiley D, Wegner D, McRoy E, Wambach J, Sisco K, Dickson P, Cole F, Baldridge D, Shin J, Solnica-Krezel L, Pak S, Schedl T, Bale A, Oladele C, Hendry C, Wang E, Xu H, Zhang H, Jeffries L, Romero M, Gerstein M, Spencer-Manzon M, Lek M, Derar N, Mane S, Serrano T, Vasiliou V, Halstead W, Jiang Y, Bernstein J, Chiorini J, Breuer O, Milla C. Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association. Genetics In Medicine 2026, 28: 102531. PMID: 41653023, PMCID: PMC13078123, DOI: 10.1016/j.gim.2026.102531.
      Peer-Reviewed Original Research

    2025

    • Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses
      Furuta Y, Ezell K, Hamid R, Cogan J, Cassini T, Rives L, McMinn A, Shah S, Peltier A, Layfield S, Fletcher R, Tedder M, Louie R, Lee J, Kerkhof J, Rzasa J, Sadikovic B, Al Mamun A, Sheehan J, Moth C, Meiler J, Vawter‐Lee M, Mendoza‐Sengco P, Holzen J, Pruthi S, Phillips J, Tinker R, Quinlan A, Elkadri A, Vanderver A, Rebelo A, Beggs A, La Spada A, Huang A, Paul A, Miller A, Al‐Beshri A, Ward A, Bale A, McConkie‐Rosell A, Tran A, Gropman A, Vargas A, Crouse A, Stergachis A, Hurst A, Raper A, Tarakad A, Andrews A, McMinn A, Balasubramanyam A, Swerdzewski B, Anguiano B, Afzali B, Solomon B, Martin B, Russell B, Wilk B, Mitchell B, Lanpher B, Lee B, Fogel B, Bordini B, Graham B, Corner B, Tucker B, Korf B, MacRae C, Toro C, Skraban C, Bacino C, Oladele C, Hendry C, Smith C, Esteves C, Xiao C, Reuter C, Eng C, Chan C, Wahl C, Welt C, Tifft C, Kiley D, Rader D, Wegner D, Miller D, Scott D, Viskochil D, Sweetser D, Adams D, Barbouth D, Rao D, Oglesbee D, Bonner D, Basel D, Novacic D, Baldridge D, Behrens E, Silverman E, Seto E, Kravets E, Rosenthal E, Worthey E, Burke E, Blue E, Chao E, Fieg E, Macnamara E, Balton E, Glanton E, Shelkowitz E, Wang E, Allenspach E, Klee E, Vilain E, Conboy E, Baldwin E, McRoy E, Dell’Angelica E, Ashley E, Cole F, Pinto e Vairo F, High F, Vetrini F, Rossignol F, Bustos F, Hisama F, Marth G, Jarvik G, Clark G, Carvalho G, Berry G, Mirzaa G, Sirugo G, Kilich G, Bademci G, Mendez H, Wood H, Taylor H, Tabor H, Dai H, Chao H, Xu H, Bellen H, Zhang H, Glass I, Lanza I, Holm I, Kohane I, Ward I, Chinn I, Pallais J, Sampson J, Orengo J, Verbsky J, Sninsky J, Hom J, Schend J, Kohler J, Posey J, Morgan J, Schymick J, Wambach J, Douglas J, Fu J, Rosenfeld J, Shin J, Stoler J, Gonzalez J, Phillips J, Carey J, Gorzynski J, Mulvihill J, Davis J, Bernstein J, Whitlock J, Abdenur J, Loscalzo J, Cogan J, Martínez‐Agosto J, McCarrier J, Alvey J, Darr K, Callaway K, Leppig K, Sullivan K, Sisco K, Singh K, Dipple K, Treat K, Hassey K, Schoch K, Smith K, Liaqat K, Worley K, Ezell K, LeBlanc K, Latchman K, Rodan L, Keehan L, Pace L, Cobban L, Blieden L, Briere L, Jeffries L, Wiel L, Farraj L, Petcharet L, Peart L, Mantcheva L, Solnica‐Krezel L, Burrage L, Mulvihill L, Schimmenti L, Emrick L, Botto L, Potocki L, Rives L, Wolfe L, Steenari M, Butte M, Delgado M, Romero M, Acosta M, Morimoto M, Nakano‐Okuno M, Gerstein M, Wener M, Sabaii M, Horike‐Pyne M, Martin M, Rodriguez M, Velinder M, Coggins M, Might M, Wheeler M, Malicdan M, Bell M, Halley M, Walker M, Levanto M, Bamshad M, Wangler M, Muriello M, Zimmermann M, Spencer‐Manzon M, Leitheiser M, Mikati M, Saifeddine M, Hubshman M, Lek M, Westerfield M, Tekin M, Derar N, Dorrani N, Parker N, Hanchard N, Borja N, Longo N, Walley N, Dargie N, Kaufman O, Kanca O, Jean‐Marie O, Goddard P, Moretti P, Ward P, Dickson P, Berger P, Fisher P, Liu P, Byers P, Bayrak‐Toydemir P, D’Souza P, Tan Q, Ungar R, Li R, Mahoney R, Rajagopalan R, Alvarez R, Spillmann R, Ganetzky R, Overbury R, Barrick R, Lewis R, Maas R, Hamid R, Mao R, Marom R, Corona R, Kumar R, Butterfield R, Attaripour S, Nagamani S, Emami S, Lalani S, Neumann S, Perlman S, Ketkar S, Sunyaev S, Kobren S, Yamamoto S, Mane S, Marwaha S, Chanprasert S, Nelson S, Zuchner S, Bivona S, Ware S, Montgomery S, Pak S, Boyden S, Bachir S, Dasari S, Korrick S, Sandmeyer S, Mozaffar T, Skelton T, Jensen T, Mamidi T, Beagle T, Maurer T, Serrano T, Coakley T, Cassini T, Nicholas T, Schedl T, Vogel T, Jobanputra V, Maduro V, Shashi V, Vasiliou V, Sybert V, Cuddapah V, Introne W, Raskind W, Thorson W, Gahl W, Byrd W, Craigen W, Halstead W, Huang Y, Karasozen Y, Jiang Y. Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses. Molecular Genetics & Genomic Medicine 2025, 13: e70165. PMID: 41407309, PMCID: PMC12711360, DOI: 10.1002/mgg3.70165.
      Peer-Reviewed Original Research
    • ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec
      Bourassa M, Sillon G, Ding S, Chioccioli M, Lek M, Ma K, Mejia-Garcia A, Gravel S, Vinh D, Knowles M, Leigh M, Davis S, Ferkol T, Olivier K, Schecterman E, Yin W, Sears P, Gentzsch M, Boyles S, Bennett W, Zeman K, Ostrowski L, Zariwala M, Shapiro A. ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec. Cells 2025, 14: 1460. PMID: 41002425, PMCID: PMC12468610, DOI: 10.3390/cells14181460.
      Peer-Reviewed Original Research
    • Reversible compromise of physiological resilience by accumulation of heteroplasmic mtDNA mutations
      Huang H, Wang Y, Zsengeller Z, Gorham J, Vemireddy V, Clark A, Pan H, Dreyfuss J, Jotwani V, Shlipak M, Sarnak M, Parikh C, Thiessen-Philbrook H, Katz R, Waikar S, Lake N, Lek M, Shi W, Puiu D, Hong Y, Seidman J, Arking D, Parikh S. Reversible compromise of physiological resilience by accumulation of heteroplasmic mtDNA mutations. Science 2025, 390: 164-172. PMID: 40906782, PMCID: PMC12892176, DOI: 10.1126/science.adk7978.
      Peer-Reviewed Original Research
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    Honors

    • honor

      Development Grant

      01/01/2016National AwardMuscular Dystrophy Association
    • honor

      CJ Martin Fellowship

      06/01/2013International AwardAustralian National Health and Medical Research Council (NHMRC)
    • honor

      Sir Keith Murdoch Fellowship

      08/01/2012International AwardAustralian American Association
    • honor

      Australian Post-graduate Award

      03/01/2009International AwardUniversity of Sydney
    • honor

      University Medal

      03/01/2008International AwardUniversity of New South Wales

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