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CHRISTOPHER GROCHOWSKI

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
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    Other Positions
    TitleAssistant Professor
    InstitutionBaylor College of Medicine
    DepartmentHuman Genome Sequencing Center
    DivisionHuman Genome Sequencing Center


    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Wang Y, Sams EI, Slaugh R, Crocker S, Hurtado EC, Tracy S, Hou YC, Markovic C, Valle K, Tate V, Belhassan K, Appelbaum E, Akinwe T, Tzovenos RS, Cao Y, Neilson A, Liu Y, Jensen N, Ghasemi R, Lindsay T, Manuel J, Couteranis S, Kremitzki M, Ustanik J, Antonacci T, Ng JK, Emory A, Metz L, DeLuca T, Lyons KN, Sinnwell T, Thomeczek B, Wang K, Sisneros N, Muraleedharan M, Kethireddy A, Corbo M, Gowda H, King K, Gurnett CA, Dutcher SK, Gooch C, Li YE, Mitchell MW, Peterson KA, Horani A, Rosenfeld JA, Bi W, Stankiewicz P, Chao HT, Posey J, Grochowski CM, Dardas Z, Puffenberger E, Pearson CE, Kooy F, Annear D, Innes AM, Heinz M, Head R, Fulton R, Toutain S, 9P-ARCH, Antonacci-Fulton L, Cui X, Mitra RD, Cole FS, Neidich J, Dickson PI, Milbrandt J, Turner TN. Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes. medRxiv. 2025 Mar 30. PMID: 40196253; PMCID: PMC11974940.
      Citations:    
    2. Fernandez-Luna L, Aguilar-Perez C, Grochowski CM, Mehaffey M, Carvalho CMB, Gonzaga-Jauregui C, Grochowski CM, Mehaffey MG, Carvalho CMB, Gonzaga-Jauregui C. Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies. HGG Adv. 2025 Apr 10; 6(2):100396. PMID: 39722459; PMCID: PMC11794170.
      Citations:    Fields:    Translation:HumansCells
    3. Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146. PMID: 39696717; PMCID: PMC11658439.
      Citations: 2     Fields:    
    4. Bilgrav Saether K, Eisfeldt J, Bengtsson JD, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Ek M, Schuy J, Ameur A, Dai H, Undiagnosed Diseases Network, Hwang JP, Sedlazeck FJ, Bi W, Marom R, Wincent J, Nordgren A, Carvalho CMB, Lindstrand A. Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps. Genome Res. 2024 Nov 20; 34(11):1785-1797. PMID: 39486878; PMCID: PMC11610578.
      Citations:    Fields:    Translation:HumansAnimals
    5. Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1616. PMID: 38253882; PMCID: PMC11260898.
      Citations: 2     Fields:    
    6. Dardas Z, Marafi D, Duan R, Fatih JM, El-Rashidy OF, Grochowski CM, Carvalho CMB, Jhangiani SN, Bi W, Du H, Gibbs RA, Posey JE, Calame DG, Zaki MS, Lupski JR. Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. Eur J Hum Genet. 2025 Mar; 33(2):231-238. PMID: 39256534; PMCID: PMC11840051.
      Citations: 1     Fields:    
    7. Schuy J, S?ther KB, Lisfeld J, Ek M, Grochowski CM, Lun MY, Hastie A, Rudolph S, Fuchs S, Neveling K, Hempel M, Hoischen A, Pettersson M, Carvalho CMB, Eisfeldt J, Lindstrand A. A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements. Genet Med Open. 2024; 2:101863. PMID: 39669604; PMCID: PMC11613786.
      Citations:    
    8. Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, H?ps W, Benito E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Hwang JP, Bhamidipati SV, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590. PMID: 38908378; PMCID: PMC11293582.
      Citations: 4     Fields:    Translation:Humans
    9. Grochowski CM, Gibbs RA, Doddapaneni H. Validation of Single-Nucleotide Mosaic Variants Through Droplet Digital PCR. Curr Protoc. 2024 May; 4(5):e1041. PMID: 38774978; PMCID: PMC11115377.
      Citations:    Fields:    Translation:Humans
    10. Bilgrav Saether K, Eisfeldt J, Bengtsson J, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Schuy J, Ameur A, Undiagnosed Diseases Network, Hwang JP, Sedlazeck FJ, Bi W, Marom R, Nordgren A, Carvalho CMB, Lindstrand A. Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions. medRxiv. 2024 Apr 24. PMID: 38712270; PMCID: PMC11071548.
      Citations:    
    11. Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM, Jones EG, Jhangiani SN, Wehrens XHT, Liu P, Bi W, Boerwinkle E, Posey JE, Muzny DM, Gibbs RA, Lupski JR, Coban-Akdemir Z, Morris SA. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 04 03; 16(1):53. PMID: 38570875; PMCID: PMC10988827.
      Citations: 1     Fields:    Translation:HumansAnimals
    12. Du H, Dardas Z, Jolly A, Grochowski CM, Jhangiani SN, Li H, Muzny D, Fatih JM, Yesil G, El?ioglu NH, Gezdirici A, Marafi D, Pehlivan D, Calame DG, Carvalho CMB, Posey JE, Gambin T, Coban-Akdemir Z, Lupski JR. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18. PMID: 38153174; PMCID: PMC10899794.
      Citations: 1     Fields:    Translation:Humans
    13. Dardas Z, Marafi D, Duan R, Fatih J, El-Rashidy O, Grochowski C, Jhangiani S, Bi W, Du H, Gibbs R, Lupski J, Carvalho C, Posey J, Calame D, Zaki M. Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Res Sq. 2024 Feb 19. PMID: 38464263; PMCID: PMC10925411.
      Citations:    
    14. Fernandez-Luna L, Aguilar-Perez C, Grochowski CM, Mehaffey M, Carvalho CMB, Gonzaga-Jauregui C. Genome-wide maps of highly-similar intrachromosomal repeats that mediate ectopic recombination in three human genome assemblies. bioRxiv. 2024 Jan 31. PMID: 38352399; PMCID: PMC10862806.
      Citations:    
    15. Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580. PMID: 38168980; PMCID: PMC11217151.
      Citations: 32     Fields:    Translation:Humans
    16. Zamani M, Vona B, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Akhondian J, Babaei M, Hashemi N, Setzke J, Galehdari H, Maroofian R, Kaiyrzhanov R, Liebmann L, Karimiani EG, Huebner AK, Calame DG, Misra VK, Toosi MB, Schnur RE, Suri M, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Severino M, Houlden H, H?bner CA. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 03; 26(3):101034. PMID: 38054405; PMCID: PMC11157690.
      Citations: 1     Fields:    Translation:HumansAnimals
    17. Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, H?ps W, Benito-Garagorri E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB. Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv. 2023 Oct 03. PMID: 37873367; PMCID: PMC10592851.
      Citations:    
    18. Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JR. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome. HGG Adv. 2023 07 13; 4(3):100188. PMID: 37124138; PMCID: PMC10130500.
      Citations:    Translation:Humans
    19. Boschann F, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, H?gerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J, Cogulu O. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet Med. 2023 May; 25(5):100799. PMID: 36853234.
      Citations:    Fields:    
    20. Dawood M, Akay G, Mitani T, Marafi D, Fatih JM, Gezdirici A, Najmabadi H, Kahrizi K, Punetha J, Grochowski CM, Du H, Jolly A, Li H, Coban-Akdemir Z, Sedlazeck FJ, Hunter JV, Jhangiani SN, Muzny D, Pehlivan D, Posey JE, Carvalho CMB, Gibbs RA, Lupski JR. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804. PMID: 36598158; PMCID: PMC9928800.
      Citations:    Fields:    Translation:Humans
    21. Du H, Jolly A, Grochowski CM, Yuan B, Dawood M, Jhangiani SN, Li H, Muzny D, Fatih JM, Coban-Akdemir Z, Carlin ME, Scheuerle AE, Witzl K, Posey JE, Pendleton M, Harrington E, Juul S, Hastings PJ, Bi W, Gibbs RA, Sedlazeck FJ, Lupski JR, Carvalho CMB, Liu P. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122. PMID: 36303224; PMCID: PMC9609164.
      Citations: 4     Fields:    Translation:Humans
    22. Chander V, Mahmoud M, Hu J, Dardas Z, Grochowski CM, Dawood M, Khayat MM, Li H, Li S, Jhangiani S, Korchina V, Shen H, Weissenberger G, Meng Q, Gingras MC, Muzny DM, Doddapaneni H, Posey JE, Lupski JR, Sabo A, Murdock DR, Sedlazeck FJ, Gibbs RA. Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053. PMID: 36054313; PMCID: PMC10167679.
      Citations:    
    23. Boschann F, Cogulu M?, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, H?gerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet Med. 2022 10; 24(10):2187-2193. PMID: 35962790; PMCID: PMC9982667.
      Citations:    
    24. Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723. PMID: 35948005; PMCID: PMC9502070.
      Citations:    
    25. Duan R, Hijazi H, Gulec EY, Eker HK, Costa SR, Sahin Y, Ocak Z, Isikay S, Ozalp O, Bozdogan S, Aslan H, Elcioglu N, Bertola DR, Gezdirici A, Du H, Fatih JM, Grochowski CM, Akay G, Baylor-Hopkins Center for Mendelian Genomics, Jhangiani SN, Karaca E, Gu S, Coban-Akdemir Z, Posey JE, Bayram Y, Sutton VR, Carvalho CMB, Pehlivan D, Gibbs RA, Lupski JR. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. HGG Adv. 2022 Oct 13; 3(4):100132. PMID: 36035248; PMCID: PMC9403727.
      Citations:    
    26. Schuy J, Grochowski CM, Carvalho CMB, Lindstrand A. Complex genomic rearrangements: an underestimated cause of rare diseases. Trends Genet. 2022 11; 38(11):1134-1146. PMID: 35820967; PMCID: PMC9851044.
      Citations:    Fields:    
    27. Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 2022 08; 188(8):2360-2366. PMID: 35751429; PMCID: PMC9756141.
      Citations:    Fields:    Translation:Humans
    28. Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR, Tajsharghi H, Travaglini L, Nicita F. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321. PMID: 35471564; PMCID: PMC10054521.
      Citations:    Fields:    Translation:Humans
    29. Abdala BB, Boy R, de Carvalho CMB, Grochowski CM, Pehlivan D, Gon?alves AP, Dos Santos JM, Krepischi ACV, Rosenberg C, Gusm?o L, Pimentel MMG, Santos-Rebou?as CB. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome. Eur J Med Genet. 2021 Dec; 64(12):104367. PMID: 34678473.
      Citations:    Fields:    Translation:HumansCells
    30. Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005. PMID: 34582790; PMCID: PMC8546040.
      Citations: 2     Fields:    Translation:Humans
    31. Grochowski CM, Eisfeldt J, Du H, Lupski JR, Lindstrand A, Carvalho CMB, Krepischi ACV, Bertola DR, Oliveira D, Costa SS. Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Front Genet. 2021; 12:708348. PMID: 34512724; PMCID: PMC8427664.
      Citations: 1     
    32. Duan R, Saadi NW, Grochowski CM, Bhadila G, Faridoun A, Mitani T, Du H, Fatih JM, Jhangiani SN, Akdemir ZC, Gibbs RA, Pehlivan D, Posey JE, Marafi D, Lupski JR. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 07; 185(7):1972-1980. PMID: 33797191; PMCID: PMC8445493.
      Citations: 6     Fields:    Translation:HumansCells
    33. Zhang C, Mazzeu JF, Eisfeldt J, Grochowski CM, White J, Akdemir ZC, Jhangiani SN, Muzny DM, Gibbs RA, Lindstrand A, Lupski JR, Sutton VR, Carvalho CMB. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600. PMID: 33048444; PMCID: PMC8445516.
      Citations: 7     Fields:    Translation:HumansCells
    34. Hansen AW, Khayat MM, Chander V, Grochowski CM, Jiang Y, Li H, Mitani T, Kessler E, Jayaseelan J, Shen H, Gezdirici A, Pehlivan D, Meng Q, Rosenfeld JA, Jhangiani SN, Madan-Khetarpal S, Scott DA, Gingras MC, Muzny DM, Posey JE, Liu P, Lupski JR, Gibbs RA, Montenegro-Garreaud X, Abarca-Barriga H, Trubnykova M. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 12; 41(12):2094-2104. PMID: 32935419; PMCID: PMC7903881.
      Citations: 1     Fields:    Translation:Humans
    35. Pettersson M, Grochowski CM, Wincent J, Eisfeldt J, Breman AM, Cheung SW, Lupski JR, Ottosson J, Lovmar L, Lundberg ES, Nilsson D, Carvalho CMB, Lindstrand A, Krepischi ACV, Rosenberg C, Gacic J. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat. 2020 11; 41(11):1979-1998. PMID: 32906200; PMCID: PMC7702065.
      Citations: 6     Fields:    Translation:HumansCells
    36. Gambin T, Liu Q, Karolak JA, Grochowski CM, Xie NG, Wu LR, Yan YH, Cao Y, Coban Akdemir ZH, Wilson TA, Jhangiani SN, Chen E, Eng CM, Muzny D, Posey JE, Yang Y, Zhang DY, Shaw C, Liu P, Lupski JR, Stankiewicz P. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 11; 22(11):1768-1776. PMID: 32655138; PMCID: PMC7606563.
      Citations: 11     Fields:    Translation:Humans
    37. Liu Q, Grochowski CM, Bi W, Lupski JR, Stankiewicz P. Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions. Curr Protoc Hum Genet. 2020 06; 106(1):e99. PMID: 32176465; PMCID: PMC7138410.
      Citations: 2     Fields:    Translation:Humans
    38. Liu Q, Karolak JA, Grochowski CM, Wilson TA, Rosenfeld JA, Bacino CA, Lalani SR, Patel A, Breman A, Smith JL, Cheung SW, Lupski JR, Bi W, Stankiewicz P. Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 09; 112(5):2937-2941. PMID: 32387503; PMCID: PMC7363577.
      Citations: 5     Fields:    Translation:Humans
    39. Coban-Akdemir ZH, Charng WL, Azamian M, Paine IS, Punetha J, Grochowski CM, Gambin T, Valdes SO, Cannon B, Zapata G, Hernandez PP, Jhangiani S, Doddapaneni H, Hu J, Boricha F, Muzny DM, Boerwinkle E, Yang Y, Gibbs RA, Posey JE, Wehrens XHT, Belmont JW, Kim JJ, Miyake CY, Lupski JR, Lalani SR. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 06; 182(6):1387-1399. PMID: 32233023; PMCID: PMC7275694.
      Citations: 3     Fields:    Translation:Humans
    40. Rajagopalan R, Tsai EA, Grochowski CM, Kelly SM, Loomes KM, Spinner NB, Devoto M. Exome Sequencing in Individuals with Isolated Biliary Atresia. Sci Rep. 2020 02 17; 10(1):2709. PMID: 32066793; PMCID: PMC7026070.
      Citations: 5     Fields:    Translation:Humans
    41. Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Hum Mutat. 2020 05; 41(5):973-982. PMID: 31944481.
      Citations: 5     Fields:    Translation:Humans
    42. Gunning AC, Strucinska K, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Ellard S, Mu?oz Oreja M, Fernandez Pelayo U, Holt IJ. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 02 06; 106(2):272-279. PMID: 32004445; PMCID: PMC7010973.
      Citations: 12     Fields:    Translation:HumansCells
    43. Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 12 09; 11(1):80. PMID: 31818324; PMCID: PMC6902434.
      Citations: 8     Fields:    Translation:Humans
    44. Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R, Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015. PMID: 31630790; PMCID: PMC6848995.
      Citations: 8     Fields:    Translation:HumansCells
    45. Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 2019 12; 40(12):2197-2220. PMID: 31343788; PMCID: PMC6899717.
      Citations: 21     Fields:    Translation:Humans
    46. Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR, Santer R, Wilichowski E, Wortmann SB. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316. PMID: 31256877; PMCID: PMC6698803.
      Citations: 16     Fields:    Translation:Humans
    47. Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, Karaca E, Albayrak HM, Radhakrishnan P, Erdem HB, Sahin I, Yildirim T, Bayhan IA, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Gibbs RA, Tsiakas K, Girisha KM, Gul D, Posey JE, Elcioglu NH, Tuysuz B, Lupski JR, Bierhals T, Hempel M. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150. PMID: 31230720; PMCID: PMC6612529.
      Citations: 37     Fields:    Translation:Humans
    48. Bodkin JA, Coleman MJ, Godfrey LJ, Carvalho CMB, Morgan CJ, Suckow RF, Anderson T, Kaufman MJ, Lewandowski KE, Siegel AJ, Waldstreicher E, Grochowski CM, Javitt DC, Rujescu D, Hebbring S, Weinshilboum R, Rodriguez SB, Kirchhoff C, Visscher T, Vuckovic A, Fialkowski A, McCarthy S, Malhotra D, Sebat J, Goff DC, Hudson JI, Lupski JR, Coyle JT, Rudolph U, Levy DL, ?ng?r D. Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. Biol Psychiatry. 2019 10 01; 86(7):523-535. PMID: 31279534; PMCID: PMC6745274.
      Citations: 15     Fields:    Translation:HumansCTClinical Trials
    49. Chen Y, Gilbert MA, Grochowski CM, McEldrew D, Llewellyn J, Waisbourd-Zinman O, Hakonarson H, Bailey-Wilson JE, Russo P, Wells RG, Loomes KM, Spinner NB, Devoto M. A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. PLoS Genet. 2018 08; 14(8):e1007532. PMID: 30102696; PMCID: PMC6107291.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    50. Gillentine MA, Lozoya R, Yin J, Grochowski CM, White JJ, Schaaf CP, Calarge CA. CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders. J Affect Disord. 2018 10 15; 239:247-252. PMID: 30029151; PMCID: PMC6273479.
      Citations: 2     Fields:    Translation:Humans
    51. Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat. 2018 07; 39(7):939-946. PMID: 29696747; PMCID: PMC5995661.
      Citations: 11     Fields:    Translation:HumansCells
    52. Gillentine MA, White JJ, Grochowski CM, Lupski JR, Schaaf CP, Calarge CA. CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 Dec; 27(10):908-915. PMID: 28817303; PMCID: PMC5725633.
      Citations: 4     Fields:    Translation:Humans
    53. Tsai EA, Gilbert MA, Grochowski CM, Underkoffler LA, Meng H, Zhang X, Wang MM, Shitaye H, Hankenson KD, Piccoli D, Lin H, Kamath BM, Devoto M, Spinner NB, Loomes KM. THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome. Cell Mol Gastroenterol Hepatol. 2016 Sep; 2(5):663-675.e2. PMID: 28090565; PMCID: PMC5042888.
      Citations: 9     Fields:    
    54. Rajagopalan R, Grochowski CM, Gilbert MA, Falsey AM, Coleman K, Romero R, Loomes KM, Piccoli DA, Devoto M, Spinner NB. Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. Am J Med Genet A. 2016 Mar; 170(3):750-3. PMID: 26697755.
      Citations: 9     Fields:    Translation:Humans
    55. Kelsen JR, Dawany N, Martinez A, Martinez A, Grochowski CM, Maurer K, Rappaport E, Piccoli DA, Baldassano RN, Mamula P, Sullivan KE, Devoto M. A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report. BMC Gastroenterol. 2015 Nov 18; 15:160. PMID: 26581487; PMCID: PMC4652404.
      Citations: 17     Fields:    Translation:Humans
    56. Grochowski CM, Loomes KM, Spinner NB. Jagged1 (JAG1): Structure, expression, and disease associations. Gene. 2016 Jan 15; 576(1 Pt 3):381-4. PMID: 26548814; PMCID: PMC4673022.
      Citations: 42     Fields:    Translation:Humans
    57. Izumi K, Hayashi D, Grochowski CM, Kubota N, Nishi E, Arakawa M, Hiroma T, Hatata T, Ogiso Y, Nakamura T, Falsey AM, Hidaka E, Spinner NB. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors. Am J Med Genet A. 2016 Feb; 170A(2):471-475. PMID: 26463753.
      Citations: 9     Fields:    Translation:Humans
    58. Tsai EA, Grochowski CM, Falsey AM, Rajagopalan R, Wendel D, Devoto M, Krantz ID, Loomes KM, Spinner NB. Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. Hum Mutat. 2015 Jun; 36(6):631-7. PMID: 25765999; PMCID: PMC4477513.
      Citations: 18     Fields:    Translation:Humans
    59. Grochowski CM, Rajagopalan R, Falsey AM, Loomes KM, Piccoli DA, Krantz ID, Devoto M, Spinner NB. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. Am J Med Genet A. 2015 Apr; 167A(4):891-3. PMID: 25737299.
      Citations: 3     Fields:    Translation:HumansCells
    60. Tsai EA, Grochowski CM, Loomes KM, Bessho K, Hakonarson H, Bezerra JA, Russo PA, Haber BA, Spinner NB, Devoto M. Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet. 2014 Feb; 133(2):235-43. PMID: 24104524; PMCID: PMC3901047.
      Citations: 32     Fields:    Translation:HumansCells
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