Publications

• Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.
  J Autism Dev Disord Volume: 55 Page(s): 667 - 677
  02/01/2025 Authors: Pollak RM; Mortillo M; Murphy MM; Mulle JG
• Comparison of autism domains across thirty rare variant genotypes.
  EBioMedicine Volume: 112 Page(s): 105521
  02/01/2025 Authors: Ali NMH; Chawner SJRA; Kushan-Wells L; Bearden CE; Mulle JG; Pollak RM; Gur RE; Chung WK; IMAGINE ID Consortium; Owen MJ
• Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.
  Mol Psychiatry Volume: 29 Page(s): 3395 - 3411
  11/01/2024 Authors: Sefik E; Duan K; Li Y; Sholar B; Evans L; Pincus J; Ammar Z; Murphy MM; Klaiman C; Saulnier CA
• Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs.
  Stem Cell Reports Volume: 19 Page(s): 1489 - 1504
  10/08/2024 Authors: Zhang H; McCarroll A; Peyton L; Daz de Len-Guerrerro S; Zhang S; Gowda P; Sirkin D; ElAchwah M; Duhe A; Wood WG
• Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.
  Psychol Med Volume: 54 Page(s): 1 - 12
  10/04/2024 Authors: Pollak RM; Sefik E; Aberizk K; Duan K; Espana R; Guest RM; Goldman-Yassen AE; Goines K; Novacek DM; Saulnier CA
• Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.
  J Autism Dev Disord Volume: 54 Page(s): 3142 - 3154
  08/01/2024 Authors: Pollak RM; Burrell TL; Cubells JF; Klaiman C; Murphy MM; Saulnier CA; Walker EF; White SP; Mulle JG
• Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity.
  Psychiatry Res Volume: 335 Page(s): 115867
  05/01/2024 Authors: Sefik E; Guest RM; Aberizk K; Espana R; Goines K; Novacek DM; Murphy MM; Goldman-Yassen AE; Cubells JF; Ousley O
• Scaled and Efficient Derivation of Loss of Function Alleles in Risk Genes for Neurodevelopmental and Psychiatric Disorders in Human iPSC.
  bioRxiv
  03/19/2024 Authors: Zhang H; Peyton L; McCarroll A; de Len Guerrerro SD; Zhang S; Gowda P; Sirkin D; El Achwah M; Duhe A; Wood WG
• Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.
  J Intellect Disabil Res Volume: 68 Page(s): 113 - 127
  02/01/2024 Authors: Pollak RM; Burrell TL; Cubells JF; Klaiman C; Murphy MM; Saulnier CA; Walker EF; White SP; Mulle JG
• Musculoskeletal phenotypes in 3q29 deletion syndrome.
  Am J Med Genet A Volume: 191 Page(s): 2749 - 2756
  11/01/2023 Authors: Pollak RM; Tilmon JC; Murphy MM; Gambello MJ; Sanchez Russo R; Dormans JP; Mulle JG
• Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
  Sci Adv Volume: 9 Page(s): eadh0558
  08/18/2023 Authors: Purcell RH; Sefik E; Werner E; King AT; Mosley TJ; Merritt-Garza ME; Chopra P; McEachin ZT; Karne S; Raj N
• Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion
  Science Advances Volume: 9
  08/18/2023 Authors: Purcell RH; Sefik E; Werner E; King AT; Mosley TJ; Merritt-Garza ME; Chopra P; McEachin ZT; Karne S; Raj N
• High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.
  Genome Med Volume: 15 Page(s): 35
  05/10/2023 Authors: Yilmaz F; Gurusamy U; Mosley TJ; Hallast P; Kim K; Mostovoy Y; Purcell RH; Shaikh TH; Zwick ME; Kwok P-Y
• The Schizophrenia-Associated 3q29 Deletion: CrossSpecies Transcriptional Profiling Converges on Mitochondrial Dysregulation
  Volume: 93 Page(s): S6 - S6
  05/01/2023 Authors: Mulle J; Purcell R; Sefik E; Werner E; Faundez V; Sloan S; Bassell G
• Musculoskeletal phenotypes in 3q29 deletion syndrome.
  medRxiv
  04/03/2023 Authors: Pollak RM; Tilmon JC; Murphy MM; Gambello MJ; Russo RS; Dormans JP; Mulle JG
• Adaptive behavior deficits in individuals with 3q29 deletion syndrome.
  medRxiv
  04/03/2023 Authors: Pollak RM; Burrell TL; Cubells JF; Klaiman C; Murphy MM; Saulnier CA; Walker EF; White SP; Mulle JG
• A distinct cognitive profile in individuals with 3q29 deletion syndrome.
  J Intellect Disabil Res Volume: 67 Page(s): 216 - 227
  03/01/2023 Authors: Klaiman C; White SP; Saulnier C; Murphy M; Burrell L; Cubells J; Walker E; Emory 3q29 Project; Mulle JG
• Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion
  
  01/28/2023 Authors: Purcell RH; Sefik E; Werner E; King AT; Mosley TJ; Merritt-Garza ME; Chopra P; McEachin ZT; Karne S; Raj N
• Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing.
  Am J Med Genet A Volume: 191 Page(s): 205 - 219
  01/01/2023 Authors: Biedziak B; Dbrowska J; Szponar-urowska A; Bukowska-Olech E; Jamsheer A; Mojs E; Mulle J; Poski R; Mostowska A
• Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome.
  Mol Autism Volume: 13 Page(s): 50
  12/24/2022 Authors: Pollak RM; Pincus JE; Burrell TL; Cubells JF; Klaiman C; Murphy MM; Saulnier CA; Walker EF; White SP; Mulle JG
• INCREASED PREVALENCE OF RARE COPY NUMBER VARIANTS IN TREATMENT-RESISTANT PSYCHOSIS
  Volume: 63 Page(s): E165 - E165
  10/01/2022 Authors: Dietterich T; Harner M; Bruno L; Farrell M; Xavier RM; Szatkiewicz J; Mulle J; Sullivan P; Josiassen R
• Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.
  Am J Hum Genet Volume: 109 Page(s): 1500 - 1519
  08/04/2022 Authors: Kozlova A; Zhang S; Kotlar AV; Jamison B; Zhang H; Shi S; Forrest MP; McDaid J; Cutler DJ; Epstein MP
• Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.
  Am J Hum Genet Volume: 109 Page(s): 1353 - 1365
  08/04/2022 Authors: Commission on Novel Technologies for Neurodevelopmental Copy Number Variants
• The 3q29 Deletion as a Model System to Study the Neurodevelopmental Hypothesis of Schizophrenia
  BIOLOGICAL PSYCHIATRY Volume: 91 Page(s): S57 - S57
  05/01/2022 Authors: Mulle J; Sefik E; Walker E; Klaiman C; Murphy M; Li L; White S; Saulnier C; Shultz S
• Symptoms of Pediatric Feeding Disorders Among Individuals with 3q29 Deletion Syndrome: A Case-Control Study.
  J Dev Behav Pediatr Volume: 43 Page(s): e170 - e178
  04/01/2022 Authors: Wawrzonek AJ; Sharp W; Burrell TL; Gillespie SE; Pollak RM; Murphy MM; Mulle JG; Emory 3q29 Project,
• Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.
  Am J Psychiatry Volume: 179 Page(s): 189 - 203
  03/01/2022 Authors: Jacquemont S; Huguet G; Klein M; Chawner SJRA; Donald KA; van den Bree MBM; Sebat J; Ledbetter DH; Constantino JN; Earl RK
• Metabolic effects of the schizophrenia-associated 3q29 deletion.
  Transl Psychiatry Volume: 12 Page(s): 66
  02/17/2022 Authors: Pollak RM; Purcell RH; Rutkowski TP; Malone T; Pachura KJ; Bassell GJ; Epstein MP; Dawson PA; Smith MR; Jones DP
• Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: "We Can't Just Wish This Thing Away".
  J Dev Behav Pediatr Volume: 43 Page(s): e94 - e102
  02/01/2022 Authors: Glassford MR; Purcell RH; Pass S; Murphy MM; Bassell GJ; Mulle JG; Emory 3q29 Project,*
• Loss-of-function of OTUD7A in the schizophrenia-associated 15q13.3 deletion impairs synapse development and function in human neurons
  
  01/07/2022 Authors: Kozlova A; Zhang S; Kotlar AV; Jamison B; Zhang H; Shi S; Forrest MP; McDaid J; Cutler DJ; Epstein MP
• Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome
  
  01/01/2022 Authors: Sefik E; Li Y; Sholar B; Evans L; Pincus J; Ammar Z; Murphy M; Klaiman C; Saulnier C; White S
• Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity
  
  01/01/2022 Authors: Sefik E; Guest R; Aberizk K; Espana R; Goines K; Novacek D; Murphy M; Goldman-Yassen A; Cubells J; Ousley O
• Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.
  Ann N Y Acad Sci Volume: 1506 Page(s): 5 - 17
  12/01/2021 Authors: Cable J; Purcell RH; Robinson E; Vorstman JAS; Chung WK; Constantino JN; Sanders SJ; Sahin M; Dolmetsch RE; Shah BM
• MODELING THE LOSS-OF-FUNCTION MUTATION OF OTUD7A WITHIN THE SCHIZOPHRENIA-ASSOCIATED 15Q13.3 MICRODELETION IN HUMAN NEURONS
  Volume: 51 Page(s): E71 - E71
  09/27/2021 Authors: Kozlova A; Zhang S; Kotlar A; McDaid J; Forrest MP; Zhang H; Jamison B; Cutler D; Zwick M; Pang Z
• Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
  Mol Psychiatry Volume: 26 Page(s): 4496 - 4510
  08/01/2021 Authors: Cleynen I; Engchuan W; Hestand MS; Heung T; Holleman AM; Johnston HR; Monfeuga T; McDonald-McGinn DM; Gur RE; Morrow BE
• Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
  Sci Rep Volume: 11 Page(s): 15164
  07/20/2021 Authors: Trevino CE; Holleman AM; Corbitt H; Maslen CL; Rosser TC; Cutler DJ; Johnston HR; Rambo-Martin BL; Oberoi J; Dooley KJ
• Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.
  Am J Med Genet A Volume: 185 Page(s): 2094 - 2101
  07/01/2021 Authors: Mak BC; Sanchez Russo R; Gambello MJ; Fleischer N; Black ED; Leslie E; Murphy MM; Emory 3q29 Project; Mulle JG
• Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome.
  Transl Psychiatry Volume: 11 Page(s): 357
  06/15/2021 Authors: Sefik E; Purcell RH; Emory 3q29 Project; Walker EF; Bassell GJ; Mulle JG
• Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.
  BMC Med Genomics Volume: 14 Page(s): 154
  06/09/2021 Authors: Mosley TJ; Johnston HR; Cutler DJ; Zwick ME; Mulle JG
• A cross-comparison of cognitive ability across 8 genomic disorders.
  Curr Opin Genet Dev Volume: 68 Page(s): 106 - 116
  06/01/2021 Authors: Mortillo M; Mulle JG
• Editorial overview: Rare CNV disorders and neuropsychiatric phenotypes: opportunities, challenges, solutions.
  Curr Opin Genet Dev Volume: 68 Page(s): iii - ix
  06/01/2021 Authors: Mulle JG; Sullivan PF; Hjerling-Leffler J
• Polygenic risk scores differentiate schizophrenia patients with toxoplasma gondii compared to toxoplasma seronegative patients.
  Compr Psychiatry Volume: 107 Page(s): 152236
  05/01/2021 Authors: Lori A; Avramopoulos D; Wang AW; Mulle J; Massa N; Duncan EJ; Powers A; Conneely K; Gillespie CF; Jovanovic T
• Structural Cerebellar Correlates of Psychotic and Sub-Threshold Psychotic Symptoms in the 3q29 Deletion Syndrome
  Volume: 89 Page(s): S225 - S226
  05/01/2021 Authors: Sefik E; Aberizk K; Espana R; Guest R; Goines K; Novacek D; Pincus J; Murphy M; Li L; Shultz S
• Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
  Genet Med Volume: 23 Page(s): 872 - 880
  05/01/2021 Authors: Sanchez Russo R; Gambello MJ; Murphy MM; Aberizk K; Black E; Burrell TL; Carlock G; Cubells JF; Epstein MT; Espana R
• Polygenic risk scores differentiate schizophrenia patients with toxoplasma gondii compared to toxoplasma seronegative patients
  Comprehensive Psychiatry Volume: 107 Page(s): 152236 - 152236
  05/01/2021 Authors: Lori A; Avramopoulos D; Wang AW; Mulle J; Massa N; Duncan EJ; Powers A; Conneely K; Gillespie CF; Jovanovic T
• Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion.
  Mol Psychiatry Volume: 26 Page(s): 772 - 783
  03/01/2021 Authors: Rutkowski TP; Purcell RH; Pollak RM; Grewenow SM; Gafford GM; Malone T; Khan UA; Schroeder JP; Epstein MP; Bassell GJ
• Multi-modal investigation of the schizophrenia-associated 3q29 genomic interval reveals global genetic diversity with unique haplotypes and segments that increase the risk for non-allelic homologous recombination
  
  01/01/2021 Authors: Yilmaz F; Gurusamy U; Mosley T; Mostovoy Y; Shaikh T; Zwick M; Kwok P-Y; Lee C; Mulle J
• Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report
  BMC Psychiatry Volume: 20
  12/01/2020 Authors: Murphy MM; Burrell TL; Cubells JF; Epstein MT; Espana R; Gambello MJ; Goines K; Klaiman C; Koh S; Russo RS
• Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
  Sci Rep Volume: 10 Page(s): 18051
  10/22/2020 Authors: Trevino CE; Holleman AM; Corbitt H; Maslen CL; Rosser TC; Cutler DJ; Johnston HR; Rambo-Martin BL; Oberoi J; Dooley KJ
• Glucocorticoid receptor sensitivity in early pregnancy in an African American cohort.
  Am J Reprod Immunol Volume: 84 Page(s): e13252
  07/01/2020 Authors: Clarke LS; Corwin EJ; Dunlop AL; Hankus A; Bradner JM; Paul S; Jiao Y; Smith AK; Patrushev N; Mulle JG
• Comparison of vaginal microbiota in gynecologic cancer patients pre- and post-radiation therapy and healthy women.
  Cancer Med Volume: 9 Page(s): 3714 - 3724
  06/01/2020 Authors: Tsementzi D; Pena-Gonzalez A; Bai J; Hu Y-J; Patel P; Shelton J; Dolan M; Arluck J; Khanna N; Conrad L
• New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.
  Am J Med Genet A Volume: 182 Page(s): 1152 - 1166
  05/01/2020 Authors: Pollak RM; Zinsmeister MC; Murphy MM; Zwick ME; Emory 3q29 Project; Mulle JG
• Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.
  BMC Psychiatry Volume: 20 Page(s): 184
  04/22/2020 Authors: Murphy MM; Burrell TL; Cubells JF; Epstein MT; Espana R; Gambello MJ; Goines K; Klaiman C; Koh S; Russo RS
• IN SILICO PREDICTION OF T-CELL-MEDIATED MOLECULAR MIMICRY IN TOXOPLASMOSIS AND SCHIZOPHRENIA
  Volume: 46 Page(s): S108 - S108
  04/01/2020 Authors: Thylur D; Lori A; Avramopoulos D; Mulle J; Goes F; Conneely K; Pulver A; Pearce B
• Key signs and symptoms associated with GLA variant detection in relatives of an individual with a known GLA variant
  Volume: 129 Page(s): S148 - S148
  02/01/2020 Authors: Simmons MF; Laney DA; Urquhart OR; Pass S; Mulle JG
• Sex-specific recombination predicts parent of origin for recurrent genomic disorders
  
  01/01/2020 Authors: Mosley T; Johnston R; Cutler D; Zwick M; Mulle J
• A framework for the investigation of rare genetic disorders in neuropsychiatry.
  Nat Med Volume: 25 Page(s): 1477 - 1487
  10/01/2019 Authors: Sanders SJ; Sahin M; Hostyk J; Thurm A; Jacquemont S; Avillach P; Douard E; Martin CL; Modi ME; Moreno-De-Luca A
• METABOLIC DYSFUNCTION AS A CONTRIBUTOR TO PHENOTYPES OF THE SCHIZOPHRENIA-ASSOCIATED 3Q29 DELETION
  Volume: 29 Page(s): S224 - S225
  10/01/2019 Authors: Pollak R; Purcell R; Rutkowski T; Malone T; Pachura K; Bassell GJ; Epstein MP; Caspary T; Dawson PA; Jones DP
• WEIGHTED GENE CO-EXPRESSION NETWORK ANALYSIS OF THE HUMAN FRONTAL CORTEX REVEALS NOVEL INSIGHTS INTO THE SCHIZOPHRENIA-ASSOCIATED 3Q29 DELETION SYNDROME
  Volume: 29 Page(s): S195 - S195
  10/01/2019 Authors: Sefik E; Purcell R; Bassell GJ; Walker E; Mulle J
• Protocol for the Emory University African American maternal stress and infant gut microbiome cohort study.
  BMC Pediatr Volume: 19 Page(s): 246
  07/22/2019 Authors: Brennan PA; Dunlop AL; Smith AK; Kramer M; Mulle J; Corwin EJ
• Genome-wide association study in two populations to determine genetic variants associated with Toxoplasma gondii infection and relationship to schizophrenia risk.
  Prog Neuropsychopharmacol Biol Psychiatry Volume: 92 Page(s): 133 - 147
  06/08/2019 Authors: Wang AW; Avramopoulos D; Lori A; Mulle J; Conneely K; Powers A; Duncan E; Almli L; Massa N; McGrath J
• Genome-wide association study in two populations to determine genetic variants associated with Toxoplasma gondii infection and relationship to schizophrenia risk
  Progress in Neuro-Psychopharmacology and Biological Psychiatry Volume: 92 Page(s): 133 - 147
  06/01/2019 Authors: Wang AW; Avramopoulos D; Lori A; Mulle J; Conneely K; Powers A; Duncan E; Almli L; Massa N; McGrath J
• Powerful and Efficient Strategies for Genetic Association Testing of Symptom and Questionnaire Data in Psychiatric Genetic Studies.
  Sci Rep Volume: 9 Page(s): 7523
  05/17/2019 Authors: Holleman AM; Broadaway KA; Duncan R; Todor A; Almli LM; Bradley B; Ressler KJ; Ghosh D; Mulle JG; Epstein MP
• Developmental Outcomes in Duarte Galactosemia.
  Pediatrics Volume: 143
  01/01/2019 Authors: Carlock G; Fischer ST; Lynch ME; Potter NL; Coles CD; Epstein MP; Mulle JG; Kable JA; Barrett CE; Edwards SM
• THE EMORY 3Q29 DELETION PROJECT: PROFILES OF NEURODEVELOPMENTAL AND NEUROPSYCHIATRIC PHENOTYPES
  Volume: 29 Page(s): S830 - S830
  01/01/2019 Authors: Pollak R; Boddu S; Park J; Zwick M; Saulnier C; Mulle J
• Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.
  Mol Autism Volume: 10 Page(s): 30
  01/01/2019 Authors: Pollak RM; Murphy MM; Epstein MP; Zwick ME; Klaiman C; Saulnier CA; Emory 3q29 Project; Mulle JG
• Stability of the vaginal, oral, and gut microbiota across pregnancy among African American women: the effect of socioeconomic status and antibiotic exposure.
  PeerJ Volume: 7 Page(s): e8004
  01/01/2019 Authors: Dunlop AL; Knight AK; Satten GA; Cutler AJ; Wright ML; Mitchell RM; Read TD; Mulle J; Hertzberg VS; Hill CC
• Osteomicrobiology: The influence of gut microbiota on bone in health and disease.
  Bone Volume: 115 Page(s): 59 - 67
  10/01/2018 Authors: Jones RM; Mulle JG; Pacifici R
• Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
  Am J Med Genet A Volume: 176 Page(s): 2172 - 2181
  10/01/2018 Authors: Zhao Y; Guo T; Fiksinski A; Breetvelt E; McDonald-McGinn DM; Crowley TB; Diacou A; Schneider M; Eliez S; Swillen A
• Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
  Am J Hum Genet Volume: 103 Page(s): 457
  09/06/2018 Authors: Demaerel W; Hestand MS; Vergaelen E; Swillen A; Lpez-Snchez M; Prez-Jurado LA; McDonald-McGinn DM; Zackai E; Emanuel BS; Morrow BE
• EVALUATION OF MUTATION-SCORING TOOLS FOR USE IN ASSIGNING INHIBITOR RISK AMONG PERSONS WITH HEMOPHILIA A
  Volume: 93 Page(s): E51 - E52
  09/01/2018 Authors: Payne AB; Miller CH; Ellingsen D; Driggers J; Bean CJ; Mulle JG; Soucie JM
• Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.
  BMC Psychiatry Volume: 18 Page(s): 183
  06/08/2018 Authors: Murphy MM; Lindsey Burrell T; Cubells JF; Espaa RA; Gambello MJ; Goines KCB; Klaiman C; Li L; Novacek DM; Papetti A
• HLA typing using genome wide data reveals susceptibility types for infections in a psychiatric disease enriched sample.
  Brain Behav Immun Volume: 70 Page(s): 203 - 213
  05/01/2018 Authors: Parks S; Avramopoulos D; Mulle J; McGrath J; Wang R; Goes FS; Conneely K; Ruczinski I; Yolken R; Pulver AE
• The Neuropsychiatric and Behavioral Phenotypes of 3q29 Deletion Syndrome
  Volume: 83 Page(s): S262 - S262
  05/01/2018 Authors: Pollak R; Murphy M; Epstein M; Zwick M; Saulnier C; Mulle J
• A Mouse Model of the 3q29 Deletion
  Volume: 83 Page(s): S215 - S215
  05/01/2018 Authors: Rutkowski T; Schroeder J; Gafford G; Grewenow S; Malone T; Warren S; Mulle J; Weinshenker D; Caspary T
• Short Communication: Anatomic Site of Sampling and the Rectal Mucosal Microbiota in HIV Negative Men Who Have Sex with Men Engaging in Condomless Receptive Anal Intercourse.
  AIDS Res Hum Retroviruses Volume: 34 Page(s): 277 - 281
  03/01/2018 Authors: Pescatore NA; Pollak R; Kraft CS; Mulle JG; Kelley CF
• Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.
  G3 (Bethesda) Volume: 8 Page(s): 105 - 111
  01/04/2018 Authors: Rambo-Martin BL; Mulle JG; Cutler DJ; Bean LJH; Rosser TC; Dooley KJ; Cua C; Capone G; Maslen CL; Reeves RH
• Correction to: Protocol for the Emory University African American Vaginal, oral, and gut microbiome in pregnancy cohort study.
  BMC Pregnancy Childbirth Volume: 17 Page(s): 395
  11/27/2017 Authors: Corwin EJ; Hogue CJ; Pearce B; Hill CC; Read TD; Mulle J; Dunlop AL
• Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
  Am J Hum Genet Volume: 101 Page(s): 616 - 622
  10/05/2017 Authors: Demaerel W; Hestand MS; Vergaelen E; Swillen A; Lpez-Snchez M; Prez-Jurado LA; McDonald-McGinn DM; Zackai E; Emanuel BS; Morrow BE
• Reply to Plss et al.: The strength of PEMapper/PECaller lies in unbiased calling using large sample sizes.
  Proc Natl Acad Sci U S A Volume: 114 Page(s): E8323
  10/03/2017 Authors: Johnston HR; Chopra P; Wingo TS; Patel V; Epstein MP; Mulle JG; Warren ST; Zwick ME; Cutler DJ
• The microbiome: current and future view of an ancient paradigm.
  Future Microbiol Volume: 12 Page(s): 831 - 834
  08/01/2017 Authors: Neish AS; Pacifici R; Mulle JG; Kraft CS; Stephens DS
• Protocol for the Emory University African American Vaginal, Oral, and Gut Microbiome in Pregnancy Cohort Study.
  BMC Pregnancy Childbirth Volume: 17 Page(s): 161
  06/01/2017 Authors: Corwin EJ; Hogue CJ; Pearce B; Hill CC; Read TD; Mulle J; Dunlop AL
• Genome-Wide Association Study (GWAS) of Toxoplasma Gondii Infection and Evaluation of Schizophrenia Risk by Using a Polygenic Risk Score (PRS)
  Volume: 81 Page(s): S371 - S371
  05/15/2017 Authors: Lori A; Avramopoulos D; Wang A; Goes FS; Mulle J; Powers A; McGrath JJ; Massa N; Weng L; Duncan E
• Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.
  J Neurosci Res Volume: 95 Page(s): 1144 - 1160
  05/01/2017 Authors: Rutkowski TP; Schroeder JP; Gafford GM; Warren ST; Weinshenker D; Caspary T; Mulle JG
• PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
  Proc Natl Acad Sci U S A Volume: 114 Page(s): E1923 - E1932
  03/07/2017 Authors: Johnston HR; Chopra P; Wingo TS; Patel V; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome; Epstein MP; Mulle JG; Warren ST; Zwick ME; Cutler DJ
• Gastrointestinal Health in Classic Galactosemia.
  JIMD Rep Volume: 33 Page(s): 27 - 32
  01/01/2017 Authors: Shaw KA; Mulle JG; Epstein MP; Fridovich-Keil JL
• Response to Astley's Letter to the Editor.
  Alcohol Clin Exp Res Volume: 41 Page(s): 219
  01/01/2017 Authors: Coles CD; Gailey AR; Mulle JG; Kable JA; Lynch ME; Jones KL
• Functional evaluation of a PTSD-associated genetic variant: estradiol regulation and ADCYAP1R1.
  Transl Psychiatry Volume: 6 Page(s): e978
  12/13/2016 Authors: Mercer KB; Dias B; Shafer D; Maddox SA; Mulle JG; Hu P; Walton J; Ressler KJ
• Erratum.
  Alcohol Clin Exp Res Volume: 40 Page(s): 1795
  08/01/2016
• Dysbiosis, inflammation, and response to treatment: a longitudinal study of pediatric subjects with newly diagnosed inflammatory bowel disease.
  Genome Med Volume: 8 Page(s): 75
  07/13/2016 Authors: Shaw KA; Bertha M; Hofmekler T; Chopra P; Vatanen T; Srivatsa A; Prince J; Kumar A; Sauer C; Zwick ME
• 5-Hydroxymethylation-associated epigenetic modifiers of Alzheimer's disease modulate Tau-induced neurotoxicity.
  Hum Mol Genet Volume: 25 Page(s): 2437 - 2450
  06/15/2016 Authors: Bernstein AI; Lin Y; Street RC; Lin L; Dai Q; Yu L; Bao H; Gearing M; Lah JJ; Nelson PT
• 5-Hydroxymethylation-associated epigenetic modifiers of Alzheimer's disease modulate Tau-induced neurotoxicity
  Human molecular genetics Volume: 25 Page(s): 2437 - 2450
  06/15/2016 Authors: Bernstein AI; Lin Y; Street RC; Lin L; Dai Q; Yu L; Bao H; Gearing M; Lah JJ; Nelson PT
• Sex steroid deficiency-associated bone loss is microbiota dependent and prevented by probiotics.
  J Clin Invest Volume: 126 Page(s): 2049 - 2063
  06/01/2016 Authors: Li J-Y; Chassaing B; Tyagi AM; Vaccaro C; Luo T; Adams J; Darby TM; Weitzmann MN; Mulle JG; Gewirtz AT
• Assessment of microbial DNA extraction methods of cadaver soil samples for criminal investigations
  Australian Journal of Forensic Sciences Volume: 48 Page(s): 265 - 272
  05/03/2016 Authors: Finley SJ; Lorenco N; Mulle J; Robertson BK; Javan GT
• A Comparison Among 5 Methods for the Clinical Diagnosis of Fetal Alcohol Spectrum Disorders.
  Alcohol Clin Exp Res Volume: 40 Page(s): 1000 - 1009
  05/01/2016 Authors: Coles CD; Gailey AR; Mulle JG; Kable JA; Lynch ME; Jones KL
• Analysis of Rare Variants in ADRA1a with Response to Treatment for Major Depressive Disorder (MDD)
  Volume: 79 Page(s): 225S - 226S
  05/01/2016 Authors: Lori A; Carillo-Roa T; Binder EB; Mayberg HS; McGrath CL; Mletzko T; Laird JL; Czamara D; Dunlop BW; Craighead WE
• Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.
  Am J Med Genet A Volume: 170A Page(s): 999 - 1006
  04/01/2016 Authors: Glassford MR; Rosenfeld JA; Freedman AA; Zwick ME; Mulle JG; Unique Rare Chromosome Disorder Support Group
• The Thanatomicrobiome: A Missing Piece of the Microbial Puzzle of Death.
  Front Microbiol Volume: 7 Page(s): 225
  01/01/2016 Authors: Javan GT; Finley SJ; Abidin Z; Mulle JG
• The psychosocial impact of diagnosis on caregivers of children with 3q29 deletion syndrome
  Volume: 25 Page(s): 1422 - 1422
  01/01/2016 Authors: Glassford M; Pass S; Mulle J; Bellcross C; Kornell K
• Genome-wide association study of schizophrenia in Ashkenazi Jews.
  Am J Med Genet B Neuropsychiatr Genet Volume: 168 Page(s): 649 - 659
  12/01/2015 Authors: Goes FS; McGrath J; Avramopoulos D; Wolyniec P; Pirooznia M; Ruczinski I; Nestadt G; Kenny EE; Vacic V; Peters I
• Maternal Microbiome and Pregnancy Outcomes That Impact Infant Health: A Review.
  Adv Neonatal Care Volume: 15 Page(s): 377 - 385
  12/01/2015 Authors: Dunlop AL; Mulle JG; Ferranti EP; Edwards S; Dunn AB; Corwin EJ
• New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings.
  Eur J Med Genet Volume: 58 Page(s): 704 - 714
  12/01/2015 Authors: Kotlar AV; Mercer KB; Zwick ME; Mulle JG
• The 3q29 deletion confers >40-fold increase in risk for schizophrenia.
  Mol Psychiatry Volume: 20 Page(s): 1028 - 1029
  09/01/2015 Authors: Mulle JG
• Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.
  G3 (Bethesda) Volume: 5 Page(s): 1961 - 1971
  07/20/2015 Authors: Ramachandran D; Zeng Z; Locke AE; Mulle JG; Bean LJH; Rosser TC; Dooley KJ; Cua CL; Capone GT; Reeves RH
• Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.
  Genet Med Volume: 17 Page(s): 554 - 560
  07/01/2015 Authors: Ramachandran D; Mulle JG; Locke AE; Bean LJH; Rosser TC; Bose P; Dooley KJ; Cua CL; Capone GT; Reeves RH
• Association of Rare Variants in ADRA1a with Response to Treatment for Major Depressive Disorder (MDD)
  Volume: 77
  05/01/2015 Authors: Lori A; Tania C-R; Binder EB; Mayberg HS; McGrath CL; Mletzko TC; Dunlop BW; Craighead EW; Kelley ME; Mulle JG
• Infection and inflammation in schizophrenia and bipolar disorder: a genome wide study for interactions with genetic variation.
  PLoS One Volume: 10 Page(s): e0116696
  01/01/2015 Authors: Avramopoulos D; Pearce BD; McGrath J; Wolyniec P; Wang R; Eckart N; Hatzimanolis A; Goes FS; Nestadt G; Mulle J
• Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk.
  Am J Med Genet A Volume: 164A Page(s): 1454 - 1463
  06/01/2014 Authors: Jenkins MM; Reefhuis J; Gallagher ML; Mulle JG; Hoffmann TJ; Koontz DA; Sturchio C; Rasmussen SA; Witte JS; Richter P
• Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.
  J Pediatr Gastroenterol Nutr Volume: 58 Page(s): 561 - 568
  05/01/2014 Authors: Okou DT; Mondal K; Faubion WA; Kobrynski LJ; Denson LA; Mulle JG; Ramachandran D; Xiong Y; Svingen P; Patel V
• Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
  Biol Psychiatry Volume: 75 Page(s): 371 - 377
  03/01/2014 Authors: Mulle JG; Pulver AE; McGrath JA; Wolyniec PS; Dodd AF; Cutler DJ; Sebat J; Malhotra D; Nestadt G; Conrad DF
• Robust regression analysis of copy number variation data based on a univariate score.
  PLoS One Volume: 9 Page(s): e86272
  01/01/2014 Authors: Satten GA; Allen AS; Ikeda M; Mulle JG; Warren ST
• Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.
  Mol Psychiatry Volume: 18 Page(s): 1090 - 1095
  10/01/2013 Authors: Moreno-De-Luca D; Sanders SJ; Willsey AJ; Mulle JG; Lowe JK; Geschwind DH; State MW; Martin CL; Ledbetter DH
• Mouse model implicates GNB3 duplication in a childhood obesity syndrome.
  Proc Natl Acad Sci U S A Volume: 110 Page(s): 14990 - 14994
  09/10/2013 Authors: Goldlust IS; Hermetz KE; Catalano LM; Barfield RT; Cozad R; Wynn G; Ozdemir AC; Conneely KN; Mulle JG; Dharamrup S
• The gut microbiome: a new frontier in autism research.
  Curr Psychiatry Rep Volume: 15 Page(s): 337
  02/01/2013 Authors: Mulle JG; Sharp WG; Cubells JF
• Cardiovascular disease, psychosocial factors, and genetics: the case of depression.
  Prog Cardiovasc Dis Volume: 55 Page(s): 557 - 562
  01/01/2013 Authors: Mulle JG; Vaccarino V
• Testing Copy Number Variant/Trait Associations Detected Using Manhattan Plots
  Volume: 36 Page(s): 767 - 767
  11/01/2012 Authors: Satten GA; Ramachandran D; Mulle JG; Allen AS; Bean LJH; Maslen C; Sherman SL; Reeves RH; Zwick ME
• Schizophrenia genetics: progress, at last.
  Curr Opin Genet Dev Volume: 22 Page(s): 238 - 244
  06/01/2012 Authors: Mulle JG
• Genomic tics in tourette syndrome.
  Biol Psychiatry Volume: 71 Page(s): 390 - 391
  03/01/2012 Authors: Mulle JG; Warren ST
• A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
  PLoS Genet Volume: 8 Page(s): e1002559
  01/01/2012 Authors: Kenny EE; Pe'er I; Karban A; Ozelius L; Mitchell AA; Ng SM; Erazo M; Ostrer H; Abraham C; Abreu MT
• Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
  Hum Mol Genet Volume: 20 Page(s): 3769 - 3778
  10/01/2011 Authors: Luo Y; Hermetz KE; Jackson JM; Mulle JG; Dodd A; Tsuchiya KD; Ballif BC; Shaffer LG; Cody JD; Ledbetter DH
• An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
  Genet Med Volume: 13 Page(s): 777 - 784
  09/01/2011 Authors: Kaminsky EB; Kaul V; Paschall J; Church DM; Bunke B; Kunig D; Moreno-De-Luca D; Moreno-De-Luca A; Mulle JG; Warren ST
• Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630))
  American Journal of Human Genetics Volume: 88 Page(s): 121
  01/07/2011 Authors: Moreno-De-Luca D; Mulle JG; Kaminsky EB; Sanders SJ; Myers SM; Adam MP; Pakula AT; Eisenhauer NJ; Uhas K; Weik L
• Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
  Am J Hum Genet Volume: 87 Page(s): 618 - 630
  11/12/2010 Authors: Moreno-De-Luca D; SGENE Consortium; Mulle JG; Simons Simplex Collection Genetics Consortium; Kaminsky EB; Sanders SJ; GeneSTAR; Myers SM; Adam MP; Pakula AT
• Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population.
  Proc Natl Acad Sci U S A Volume: 107 Page(s): 16222 - 16227
  09/14/2010 Authors: Bray SM; Mulle JG; Dodd AF; Pulver AE; Wooding S; Warren ST
• Microdeletions of 3q29 confer high risk for schizophrenia.
  Am J Hum Genet Volume: 87 Page(s): 229 - 236
  08/13/2010 Authors: Mulle JG; Dodd AF; McGrath JA; Wolyniec PS; Mitchell AA; Shetty AC; Sobreira NL; Valle D; Rudd MK; Satten G
• Empirical evaluation of oligonucleotide probe selection for DNA microarrays.
  PLoS One Volume: 5 Page(s): e9921
  03/29/2010 Authors: Mulle JG; Patel VC; Warren ST; Hegde MR; Cutler DJ; Zwick ME
• Scoring and Calling Copy Number Variants
  Volume: 33 Page(s): 814 - 814
  12/01/2009 Authors: Satten GA; Allen AS; Ikeda M; Mulle JG; Warren ST
• Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
  Hum Mol Genet Volume: 18 Page(s): 2957 - 2962
  08/15/2009 Authors: Rudd MK; Keene J; Bunke B; Kaminsky EB; Adam MP; Mulle JG; Ledbetter DH; Martin CL
• Exogenous Replication Stress Induces Genome-Wide Copy Number Changes in Mitotic Human Cells
  Volume: 50 Page(s): 565 - 565
  08/01/2009 Authors: Arlt MF; Ozdemir AC; Mulle JG; Schaibley VM; Warren ST; Wilson TE; Glover TW
• Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants.
  Am J Hum Genet Volume: 84 Page(s): 339 - 350
  03/01/2009 Authors: Arlt MF; Mulle JG; Schaibley VM; Ragland RL; Durkin SG; Warren ST; Glover TW
• Microarray-based mutation detection in the dystrophin gene.
  Hum Mutat Volume: 29 Page(s): 1091 - 1099
  09/01/2008 Authors: Hegde MR; Chin ELH; Mulle JG; Okou DT; Warren ST; Zwick ME
• Genomic structural variation and schizophrenia.
  Curr Psychiatry Rep Volume: 10 Page(s): 171 - 177
  04/01/2008 Authors: Mulle JG
• Replication stress induces tumor-like microdeletions in FHIT/FRA3B.
  Proc Natl Acad Sci U S A Volume: 105 Page(s): 246 - 251
  01/08/2008 Authors: Durkin SG; Ragland RL; Arlt MF; Mulle JG; Warren ST; Glover TW
• Path to understanding the pathophysiology of fragile X syndrome
  Future Neurology Volume: 2 Page(s): 567 - 575
  09/01/2007 Authors: Mulle J; Penagarikano O; Warren ST
• Simple methods for high-density copy number variation data
  Volume: 31 Page(s): 612 - 612
  09/01/2007 Authors: Satten GA; Mulle JG; Allen AS; Epstein MP; Warren ST
• Dense SNP association study for bipolar I disorder on chromosome 18p11 suggests two loci with excess paternal transmission.
  Mol Psychiatry Volume: 12 Page(s): 367 - 375
  04/01/2007 Authors: Mulle JG; Fallin MD; Lasseter VK; McGrath JA; Wolyniec PS; Pulver AE
• The pathophysiology of fragile x syndrome.
  Annu Rev Genomics Hum Genet Volume: 8 Page(s): 109 - 129
  01/01/2007 Authors: Penagarikano O; Mulle JG; Warren ST
• No evidence for association to the G72/G30 locus in an independent sample of schizophrenia families.
  Mol Psychiatry Volume: 10 Page(s): 431 - 433
  05/01/2005 Authors: Mulle JG; Chowdari KV; Nimgaonkar V; Chakravarti A
• Evidence for linkage to chromosome 13q32 in an independent sample of schizophrenia families.
  Mol Psychiatry Volume: 10 Page(s): 429 - 431
  05/01/2005 Authors: Mulle JG; McDonough JA; Chowdari KV; Nimgaonkar V; Chakravarti A
• Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes.
  Mol Psychiatry Volume: 5 Page(s): 650 - 653
  11/01/2000 Authors: Pulver AE; Mulle J; Nestadt G; Swartz KL; Blouin JL; Dombroski B; Liang KY; Housman DE; Kazazian HH; Antonarakis SE
• Analysis of media reports on the discovery of breast and prostate cancer susceptibility genes.
  AMERICAN JOURNAL OF HUMAN GENETICS Volume: 67 Page(s): 62 - 62
  10/01/2000 Authors: Bernhardt BA; Geller G; Tambor E; Mountcastle-Shah E; Mulle JG; Holtzman NA
• Schizophrenia: The identification of genetic subgroups
  BIOLOGICAL PSYCHIATRY Volume: 47 Page(s): 67S - 67S
  04/15/2000 Authors: Pulver AE; Antonarakis SE; Blouin JL; Housman D; Kazazian HH; Lasseter VK; Mulle JG; Nestadt G; Wolyniec PS
• Critical determinants of Ca(2+)-dependent inactivation within an EF-hand motif of L-type Ca(2+) channels.
  Biophys J Volume: 78 Page(s): 1906 - 1920
  04/01/2000 Authors: Peterson BZ; Lee JS; Mulle JG; Wang Y; de Leon M; Yue DT
• 221. Schizophrenia: the identification of genetic subgroups
  Biological Psychiatry Volume: 47 Page(s): S67 - S67
  04/01/2000 Authors: Pulver AE; Antonarakis SE; Blouin JL; Housman D; Kazazian HH; Lasseter VK; Mulle JG; Nestadt G; Wolyniec PS
• Schizophrenia: The identification of genetic subgroups.
  AMERICAN JOURNAL OF HUMAN GENETICS Volume: 65 Page(s): A101 - A101
  10/01/1999 Authors: Pulver AE; Antonarakis SE; Blouin JL; Housman D; Kazazian H; Lasseter VK; Mulle JG; Nestadt G; Wolyniec P
• Individual amino acids within a consensus EF-hand motif are critical for calcium-dependent inactivation of alpha(1C) calcium channels
  BIOPHYSICAL JOURNAL Volume: 76 Page(s): A340 - A340
  01/01/1999 Authors: Peterson BZ; Lee JS; Mulle JG; Wang Y; DeLeon M; Yue DT
• Inhibition of recombinant Ca2+ channels by benzothiazepines and phenylalkylamines: class-specific pharmacology and underlying molecular determinants.
  Mol Pharmacol Volume: 51 Page(s): 872 - 881
  05/01/1997 Authors: Cai D; Mulle JG; Yue DT
• Bursts of action potential waveforms relieve G-protein inhibition of recombinant P/Q-type Ca2+ channels in HEK 293 cells.
  J Physiol Volume: 499 ( Pt 3) Page(s): 637 - 644
  03/15/1997 Authors: Brody DL; Patil PG; Mulle JG; Snutch TP; Yue DT
• Bursts of action potential-shaped voltage waveforms can relieve G-protein inhibition of recombinant A-class Ca2+ channels.
  BIOPHYSICAL JOURNAL Volume: 72 Page(s): MPMD5 - MPMD5
  02/01/1997 Authors: Brody DL; Patil OG; Mulle JG; Snutch TP; Yue DT
• Molecular basis of selective state-dependent inhibition of cardiac versus neuronal Ca channels by diltiazem
  BIOPHYSICAL JOURNAL Volume: 72 Page(s): WPMD3 - WPMD3
  02/01/1997 Authors: Cai DM; Mulle JG; Yue DT
• Features of autism and social disability in 3q29 deletion syndrome
  
  Authors: Pincus J; Sefik E; Murphy MM; Klaiman C; Saulnier CA; White SP; Shultz S; The Emory 3q29 Project; Mulle JG
• Metabolic effects of the schizophrenia-associated 3q29 deletion
  Translational Psychiatry Volume: 12
  Authors: Pollak RM; Purcell RH; Rutkowski TP; Malone T; Pachura KJ; Bassell GJ; Epstein MP; Dawson PA; Smith MR; Jones DP